Original subtitles

>>THANK YOU FOR

JOINING US TODAY.

WE WELCOME YOU TO OUR 2022

VIRTUAL RARE DISEASE DAY AT NIH.

AS IT IS EACH YEAR THE PLANNING

COMMITTEE HAS BEEN WORKING HARD

FOR MANY MONTHS TO BRING YOU

TODAY'S EXCITING AND PACKED

AGENDA.

MY NAME IS ALICE CHEN, I'M A

PROGRAM OFFICER IN THE OFFICE OF

RARE DISEASES RESEARCH, LOCATED

IN THE NATIONAL CENTER FOR

ADVANCING TRANSLATIONAL SCIENCES

AT THE NATIONAL INSTITUTES OF

HEALTH.

I AM PRESENTING ON BEHALF OF MY

PLANNING CO-LEADS WHO ARE ALSO

PART OF THE OFFICE OF RARE

DISEASES RESEARCH.

WE'RE KICKING OFF WITH AN

OVERVIEW HOW YOU CAN STILL

ENGAGE WITH SPEAKERS,

EXHIBITORS, POSTER AUTHORS AND

ATTENDEES THROUGHOUT THE DAY.

TAKE NOTE OF THE FOUR WAYS YOU

CAN SUBMIT QUESTIONS, FIRST YOU

CAN USE THE Q&A FEATURE IN THIS

YEAR'S NEW EVENT APP, I WILL

SHARE MORE DETAILS ABOUT THIS

SHORTLY.

SECOND, YOU CAN USE THE SEND

LIVE FEEDBACK BUTTON AT THE

BOTTOM OF THE SCREEN.

THIRD, YOU CAN DIRECTLY E-MAIL

OUR OFFICE AT ORDR@NIH.GOV.

FINALLY, YOU CAN TWEET US YOUR

QUESTIONS USING THE EVENT

HASHTAG #RDD NIH.

SEND YOUR QUESTIONS EARLY, THERE

COULD BE A ONE-MINUTE DELAY.

I WILL SPEND A FEW MINUTES

SHARING MORE ABOUT OUR NEW EVENT

APP.

ALL OF YOU ARE CURRENTLY

WATCHING THROUGH NIH VIDEOCAST,

HOWEVER BY USING THE APP YOU

WILL STILL BE ABLE TO SUBMIT

QUESTIONS, CONNECT WITH

SPEAKERS, AND OTHER ATTENDEES,

ENGAGE WITH EXHIBITORS, POSTER

AUTHORS, VIEW ART, AND MORE.

THERE ARE A COUPLE OPTIONS TO

FIND IT.

IF YOU WOULD LIKE TO ACCESS THE

APP VIA WEB BROWSER CLICK ON THE

YELLOW LINK IN THE VIDEOCAST

DESCRIPTION BELOW.

CHROME, FIREFOX AND EDGE ARE THE

RECOMMENDED BROWSERS.

IF YOU WOULD LIKE TO USE A

MOBILE DEVICE, GO TO YOUR MOBILE

APP STORE AND DOWNLOAD THE BLUE

WHOVA APP, OR SCAN THE QR CODE

SEEN HERE.

NEXT SIGN IN USING THE SAME

E-MAIL ADDRESS YOU USED IN

REGISTRATION.

IF YOU'VE NOT SIGNED IN BEFORE,

USE THE SIGN-UP HERE FEATURE.

AFTER YOU CREATE A PASSWORD AND

SIGN UP YOU'LL BE IN.

THE EVENT APP IS ONLY OPEN TO

REGISTERED ATTENDEES.

ONCE YOU'RE SIGNED IN, YOU'LL BE

TAKEN TO THE EVENT HOME PAGE.

I WILL WALK THROUGH SEVERAL

FEATURES LOCATED IN THE LEFT

NAVIGATION MENU.

UNDER THE AGENDA, YOU CAN EXPAND

IT TO VIEW EACH SESSION FOR THIS

YEAR'S EVENT.

FOR EXAMPLE, THIS IS A SCREEN

SHOT OF OUR TALK NOW.

YOU CAN ADD IT TO MY PERSONAL

AGENDA, AND VIEW MORE DETAILS

ABOUT THE SESSION.

WHEN YOU VIEW THE SESSION

DETAILS YOU'LL SEE THIS BUTTON

TO JOIN THE STREAM.

CLICKING ON THIS WILL TAKE YOU

TO THE VIDEOCAST, BUT NOTE A

SECOND BROWSER TAB WILL OPEN.

UNFORTUNATELY, IT WILL NOT PLAY

DIRECTLY EMBEDDED WITHIN THE

APP.

ON THE RIGHT YOU WILL SEE THE

Q&A AND CHAT.

THIS IS WHAT YOU CAN USE TO ASK

QUESTIONS AND CHAT WITH OTHERS

ABOUT THE SESSION.

MANY OF OUR SPEAKERS WILL BE

AVAILABLE TODAY TO ANSWER YOUR

QUESTIONS WITHIN THE APP.

WHEN YOU SCROLL DOWN ON THE PAGE

YOU'LL SEE EACH SPEAKER FOR THAT

SESSION.

IF YOU CLICK ON THE NAME, MORE

INFORMATION ABOUT THE SPEAKER

WILL APPEAR.

ANOTHER FEATURE TO NOTE ARE

THESE ICONS ON THE SIDE, YOU CAN

BOOK MARK SPEAKERS, MESSAGE

THEM, SET UP A VIDEO CALL.

GOING BACK TO THE LEFT

NAVIGATION MENU, THE NEXT ITEM

DOWN IS THE SPEAKERS.

THEY ARE LISTED IN ALPHABETICAL

ORDER, YOU CAN ALSO USE THE

SEARCH BAR TO FIND SPEAKERS MORE

QUICKLY.

FOR EACH SPEAKER LU YOU'LL SEE

THE ABILITY TO BOOKMARK, VIEW

MESSAGE, CONSIDER A VIDEO CALL.

NEXT IS THE ATTENDEES.

IF YOU GO HERE, YOU CAN FIND

OTHERS TUNING IN AND LOOK FOR

NETWORKING OPPORTUNITIES.

NAMES ARE IN ALPHABETICAL ORDER

WITH A CONVENIENT SEARCH BAR TO

USE.

THE COMMUNITY BOARD ALLOWS FOR

ADDITIONAL ENGAGEMENT AROUND A

TOPIC.

FOR EXAMPLE, SOME OF YOU HAVE

ALREADY POSTED ICE BREAKERS, AND

THERE'S SHARING OF OTHER

CONFERENCES AS WELL AS RELATED

ARTICLES.

YOUR MESSAGES WITH OTHERS CAN BE

FOUND NEXT ALONG THE NAVIGATION

MENU.

AND WE HAVE ADDED THIS TO MAKE

THIS MORE FUN.

CHECK IN FOR A CHANCE TO HAVE

YOUR NAME ANNOUNCED AT THE END

OF THE DAY.

A BIG ITEM IN THE EVENT APP IS

VIRTUAL EXHIBITS AND POSTERS.

WHEN YOU SELECT EXHIBITORS FROM

THE LEFT, YOU WILL SEE A LIST OF

ALL THE VIRTUAL BOOTHS

AVAILABLE.

IF YOU SELECT THE DROPDOWN MENU

YOU CAN FILTER FROM NIH OR

NIH-FUNDED PROGRAMS.

OR UTILIZE THE SEARCH BAR.

WE ENCOURAGE YOU TO CLICK ON THE

BLUE BUTTON TO VISIT THE BOOTHS

AND LEARN MORE.

ONCE YOU ENTER, YOU'LL SEE A

CHAT FEATURE ON THE RIGHT FOR

YOU TO USE, YOU CAN ALSO SHARE

YOUR CONTACT INFORMATION,

CONNECT WITH BOOTH STAFF, HOURS

ARE POSTED FOR WHEN YOU CAN TALK

TO SOMEONE LIVE.

THERE'S CHANCE TO VIEW VIDEOS,

HANDOUTS AND PHOTOS OR

INFOGRAPHICS.

AGAIN, ALL AVAILABLE BOOTH STAFF

CAN BE FOUND AT THE BOTTOM.

THE LAST SECTION IS THE

RESOURCES MENU HERE.

WE ENCOURAGE YOU TO CLICK AROUND

AND BECOME FAMILIAR WITH THE

OPTIONS.

IN PARTICULAR, NCATS HAS A NEW

RARE DISEASES WEBSITE, THAT WE

ENCOURAGE YOU TO EXPLORE.

THIS IS A ONE-STOP SHOP FOR

PROGRAMS AND RESEARCH

OPPORTUNITIES YOU'LL HEAR ABOUT

TODAY.

IF YOU HAVEN'T HAD A CHANCE TO

CHECK OUT OUR RARE DISEASE DAY

NIH WEBSITE YOU CAN FIND IT

HERE.

ONE ITEM TO NOTE SINCE WE GET

THIS QUESTION EVERY YEAR, THE

VIDEOCAST STREAM OF TODAY'S

EVENT WILL BE SAVED AND ARCHIVED

FOR YOU TO WATCH AGAIN AT YOUR

OWN PACE.

IN FACT, NOTICE WE ACTUALLY HAVE

ALL PAST EVENTS READILY

AVAILABLE FOR YOU.

THIS BULLET WILL TAKE YOU TO THE

MATERIALS FOR PAST YEARS.

THIS EVENT APP WILL BE AVAILABLE

UNTIL THE END OF MAY SO YOU CAN

COME BACK AT ANY TIME.

EXHIBITORS MAY EVEN BE AVAILABLE

OUTSIDE OF TODAY'S EVENT TIME.

AS I REMIND YOU EACH YEAR FEEL

FREE TO PROVIDE FEEDBACK.

YOU CAN SELECT FEEDBACK TO

PROVIDE COMMENTS ON EACH SESSION

WITHIN THE AGENDA, AND ABOUT

OVERALL RARE DISEASE DAY AT NIH

EVENT THIS YEAR.

LASTLY, THE WHOVA GUIDES ARE AT

THE BOTTOM, IF YOU NEED MORE

SUPPORT AFTER VIEWING THE GUIDES

YOU CAN E-MAIL

SUPPORT@WHOVA.COM.

BEFORE WE JUMP TO WELCOMING

RATERS -- REMARKS, I WANT TO

THANK YOU FOR JOINING US AND

EMPHASIZE THERE WAS A TEAM

BEHIND THIS YEAR'S PLANNING

EFFORTS, MANY PEOPLE REPRESENTED

NCATS.

OTHERS IN THE 2022 PLANNING

COMMITTEE WERE THE CLINICAL

CENTER, NIH, NHLBI, NIAAA,

NINDS, U.S. FDA, CHILDREN'S INN

AT NIH, EVERYLIFE FOUNDATION,

NORD, UBC.

TO HELP US PRODUCE THE SECOND

EVER VIRTUAL EVENT THANKS TO THE

TECHNICAL TEAM ESPECIALLY THESE

KEY MEMBERS FROM NIH EVENTS

MANAGER.

YOU HELP MAKE EVERYTHING

POSSIBLE.

NOW THAT WE'VE HAD A BRIEF

OVERVIEW OF THE EVENT AND

VARIOUS ENGAGEMENT FEATURES,

ENJOY OUR EXCELLENT LINEUP OF

SPEAKERS TODAY.

>> THANK YOU, ALICE.

WE HAVE A SLIDE TO SHOW ALL OF

THE PEOPLE INVOLVED.

I WANT TO SAY A HEARTFELT THANKS

TO ALL OF YOU.

AND I WANT TO GIVE ALICE A BIG

SHOUT OUT AS WELL.

ALICE, THANKS FOR YOUR

LEADERSHIP AND TIRELESS WORK ON

BRINGING TOGETHER THIS RICH

AGENDA.

I KNOW IT'S A TEAM EFFORT AND

ALL OF THE ORGANIZERS HAVE MADE

RARE DISEASE DAY TODAY AT THE

NIH SHINE.

SO THANK YOU.

HELLO, EVERYONE.

WELCOME TO RARE DISEASE DAY AT

NIH.

I'M JONI RUTTER, ACTING DIRECTOR

OF THE NATIONAL CENTER FOR

ADVANCING TRANSLATIONAL

SCIENCES, NCATS.

IT'S MY PLEASURE TO WELCOME YOU

TODAY.

WE'RE ONCE AGAIN UNFORTUNATELY

IN A VIRTUAL SPACE FOR THIS

EVENT.

OF COURSE, WE'D PREFER TO SEE

YOU ALL IN PERSON BUT WE'RE

DELIGHTED WE CAN MEET SAFELY AND

PROVIDE A FORUM FOR PATIENTS AND

ADVOCATES AND RESEARCHERS,

POLICYMAKERS AND THE PUBLIC TO

LEARN ABOUT RARE DISEASES AND

THEIR IMPACT ON PATIENTS' LIVES.

WE HAVE FOLKS JOINING US FROM

ALL OVER THE COUNTRY AND AROUND

THE WORLD.

THANK YOU SO MUCH FOR TUNING IN.

NOW BEFORE WE BEGIN I WANT TO

RECOGNIZE AND GIVE A THANK YOU

ALSO TO THREE OTHER PEOPLE WHO

MADE REMARKABLE CONTRIBUTIONS TO

RARE DISEASE RESEARCH AT NIH.

FIRST, FRANCIS COLLINS.

DURING HIS TENURE AS NIH

DIRECTOR HE EMPHASIZED RARE

DISEASES AND VOICE OF PATIENTS

AND FAMILIES, AND NOW IN HIS NIH

LAB HE WILL CONTINUE HIS WORK ON

PROGERIA.

SECOND IS CHRIS AUSTIN, WHO

STEPPED DOWN LAST APRIL, AFTER

TEN YEARS AS THE FIRST DIRECTOR

OF NCATS.

CHRIS WAS INSTRUMENTAL IN MAKING

RARE DISEASE RESEARCH A TOP

PRIORITY FOR NCATS.

AND LAST BUT NOT LEAST, ANNE

PARISER WHO RETIRED AFTER

LEADING THE OFFICE OF RARE

DISEASE RESEARCH.

I'VE ASKED P.J. BROOKS TO BE IN

THE ACTING DIRECTOR ROLE FOR

NOW.

YOU KNOW HE WON'T SKIP A BEAT.

SO THANK YOU TO DR. COLLINS, DR.

AUSTIN, AND DR. PARISSER FOR

YOUR CONTRIBUTIONS TO RARE

DISEASES AND MAKING RARE DISEASE

DAY AT NIH A MAIN EVENT, AND

RARE DISEASE RESEARCH A VITAL

PART OF NCATS.

AT NCATS OUR MISSION IS TO TURN

BIOLOGIC OBSERVATIONS INTO

HEALTH SOLUTIONS.

AND RIGHT NOW, ONLY ABOUT 1 OUT

OF EVERY 10 PROMISING ADVANCES

BECOMES A NEW THERAPY.

IT CAN TAKE 15 TO 30 YEARS TO

BRING IT TO MARKET.

WE NEED TO CHANGE THOSE NUMBERS.

OUR NCATS APPROACH ADDRESSES

LONGSTANDING CRIMPS IN THERAPY

DEVELOPMENT PIPELINE.

OUR VISION IS TO BRING MORE

TREATMENTS TO ALL PEOPLE, MORE

QUICKLY.

AND RARE DISEASES ARE A BIG PART

OF THAT VISION.

THERE'S AN URGENCY HERE, YOU'LL

HEAR TODAY ABOUT THE ENORMITY OF

THE BURDEN OF RARE DISEASES ON

OUR SOCIETY.

ON PATIENTS, FAMILIES,

CAREGIVERS, ON OUR HEALTH CARE

SYSTEM.

RARE DISEASES ARE COLLECTIVELY

COMMON AND COSTLY, BUT ARE ALSO

ACTIONABLE.

IT STARTS WITH THE DIAGNOSIS.

GETTING AN ACCURATE DIAGNOSIS

EARLY, EASILY, SPA EXPEDITIOUS

BIIS A CRITICAL STEP BRINGING

THE BEST POSSIBLE CARE.

FOR RARE DISEASES, THIS

DIAGNOSTIC ODYSSEY TAKES AN

AVERAGE OF ABOUT 7 YEARS.

IT CAN INCLUDE MISDIAGNOSES AND

ASSOCIATED INAPPROPRIATE RARE OR

UNNECESSARY TESTS AND PROCEDURES

OR DELAYS AND MISSED

OPPORTUNITIES TO GET EFFECTIVE

INTERVENTIONS.

NCATS AIMS TO SHORTEN BY MORE

THAN HALF.

SINCE RARE DISEASES ARE NOT

RARE, THEIR TREATMENTS SHOULDN'T

BE RARE EITHER.

ONLY 5% OF DISEASES HAVE A

TREATMENT.

THAT HAS BEEN STAGNANT FOR

DECADES.

LET'S WORK TO GET THAT NUMBER UP

SO IN THE NEXT DECADE WE CAN SAY

25% OF RARE DISEASES HAVE A

TREATMENT IN THE PIPELINE.

WITH MORE THAN 7,000 RARE

DISEASES, AND 30 MILLION PEOPLE

WHO HAVE ONE, THIS IS A DAUNTING

TASK.

WE NEED TECHNOLOGIES THAT BETTER

PREDICT TOXICITY AND EFFICACY,

WE NEED THERAPEUTIC APPROACHES

THAT WORK FOR MULTIPLE DISEASES.

WE NEED INNOVATIVE AND INCLUSIVE

CLINICAL TRIALS.

AND STREAMLINED REGULATORY

PROCESSES THAT CAN ACCOMMODATE A

TRIAL DESIGN AROUND ONE

INDIVIDUAL.

WE NEED DATA-DRIVEN TOOLS TO

FACILITATE RESEARCH, AND SPEED

RARE DISEASE DIAGNOSES.

AND TELEHEALTH AND TELEMEDICINE

APPROACHES TO TREAT PEOPLE WHERE

THEY ARE.

WE CAN DO THIS.

THERE ARE NEW INITIATIVES JUST

GETTING STARTED THAT WILL

DEMOCRATIZE AND DISSEMINATE NEW

TREATMENT APPROACHES, WHERE

THERE'S CURRENTLY LITTLE TO NO

COMMERCIAL INTEREST.

PROGRAMS LIKE THE PLATFORM

VECTOR GENE THERAPY APPROACH AND

BESPOKE GENE THERAPY CONSORTIUM,

SOMATIC CELL GENE EDITING

INITIATIVE ARE ALL PROGRAMS THAT

ARE POISED TO TRANSFORM THE

PIPELINE FOR GENE-TARGETED

THERAPIES.

AND BY BREAKING DOWN THE

BARRIERS OF PRE-CLINICAL AND

CLINICAL MANUFACTURING, AND

REGULATORY HURDLES IN THE

PIPELINE, THESE APPROACHES WILL

BRING HOPE TO THE 80% OF RARE

DISEASES THAT ARE CAUSED BY A

SINGLE GENE MUTATION.

TO CHANGE THE RARE DISEASE

LANDSCAPE FOREVER, WE ALSO MUST

PULL IN THE SAME DIRECTION.

WE NEED TO ENSURE THAT ALL

PEOPLE AND ALL COMMUNITIES

BENEFIT.

WE CAN'T JUST STOP DEVELOPING

DIAGNOSTICS AND THERAPEUTICS.

WE ALSO HAVE TO RAISE AWARENESS

AND ADDRESS INEQUITIES IN RARE

DISEASES WITHIN RURAL

COMMUNITIES AND IN COMMUNITIES

OF COLOR.

THAT MEANS ACCESS TO NEWBORN

SCREENING, TO CARE, ACCESS TO

TREATMENTS, AND ALL THAT GOES

WITH IT.

THESE ARE ITEMS ON OUR NCATS

TO-DO LIST WHERE WE FOCUS ON

RARE DISEASES EVERY DAY.

IF YOU'D LIKE TO LEARN MORE,

CHECK OUT OUR NEW NCATS RARE

DISEASES LANDING PAGE,

NCATS.NIH.GOV/RARE-DISEASES.

AND HERE YOU CAN FIND

INFORMATION ABOUT RESEARCH

ADVANCES, RESOURCES, CLINICAL

TRIALS, FUNDING OPPORTUNITIES,

EVEN STAFF TO CONNECT WITH.

IN SPEAKING TO YOU TODAY AS

ACTING NCATS DIRECTOR, I'M ALSO

PERSONALLY PART OF THE RARE

DISEASES COMMUNITY, I'M IN THE

AUDIENCE WITH YOU MY MOTHER HAD

A RARE DISEASE CALLED PRIMARY

MYELOFIBROSIS.

HER NAME WAS DOROTHY.

AS YOU GUESSED, WE'RE FROM A

SMALL TOWN IN KANSAS.

IT TOOK HER ABOUT 15 YEARS TO BE

DIAGNOSED.

AND ONCE SHE WAS, THERE WEREN'T

ANY TREATMENTS.

EVENTUALLY THERE WERE CLINICAL

TRIAL OPTIONS BUT THAT REQUIRED

HER TO TRAVEL 800 MILES BY CAR,

OR 8.5 HOURS BY PLANE FREQUENTLY

AND ALONE.

SHE WASN'T ABLE TO PAY THAT

PRICE.

ODYSSEY, WAIT FOR TREATMENT

OPTIONS, ONLY TO HAVE THOSE

OPTIONS BE DIFFICULT TO ACCESS,

IT'S A STORY THAT'S EXHAUSTING.

ONE THAT I'VE SHARED WITH MANY

OF YOU HERE TODAY.

SO I AM DEDICATED TO FINDING

WAYS TO IMPROVE ALL OF THESE

FACTORS.

AND I KNOW I'M NOT ALONE IN THAT

SENTIMENT.

THAT'S WHAT GIVES ME HOPE.

SO THANK YOU SO MUCH FOR BEING

PART OF RARE DISEASE DAY AT NIH.

LET'S MAKE A DIFFERENCE

TOGETHER.

I'D LIKE TO INVITE TO THE STAGE

MY COLLEAGUE, DR. JIM GILMAN,

CHIEF EXECUTIVE OFFICER OF NIH

CLINICAL CENTER, INCREDIBLE

PARTNER FOR RARE DISEASE

RESEARCH AT NIH.

>> WELCOME.

I WANT TO BEGIN BY THANKING THE

SPONSORS OF TODAY'S MEETING AS

THE CLINICAL CENTER JOINS THE

NATIONAL CENTER FOR ADVANCING

TRANSLATIONAL SCIENCES, NCATS,

OFFICE OF RARE DISEASES RESEARCH

ALONG WITH MANY OTHER PARTNER

ORGANIZATIONS IN PUTTING ON THIS

EVENT.

THESE INCLUDE THE NATIONAL

CANCER INSTITUTE, NATIONAL

HEART, LUNG AND BLOOD INSTITUTE,

NATIONAL INSTITUTE ON ALCOHOL

ABUSE AND ALCOHOLISM, NATIONAL

INSTITUTE OF NEUROLOGICAL

DISORDERS AND STROKE, THE RARE

DISEASES CLINICAL RESEARCH

NETWORKS COALITION OF PATIENT

ADVOCACY GROUPS, U.S. FOOD AND

DRUG ADMINISTRATION, CHILDREN'S

INN AT NIH, EVERYLIFE FOUNDATION

FOR RARE DISEASES, NATIONAL

ORGANIZATION FOR RARE DISORDERS,

AND UNITED BIOSOURCE LLC.

THIS IS OUR SECOND GO-ROUND, AS

A VIRTUAL RARE DISEASE DAY.

FOR YEARS THE CLINICAL CENTER

WAS THE PROUD HOME TO RARE

DISEASE DAY ON THE NIH CAMPUS.

IT WAS A LITTLE BITTERSWEET WHEN

RARE DISEASE DAY OUTGREW MASUR

AUDITORIUM AND WENT TO THE NIH

CONFERENCE CENTER A FEW YEARS

BACK.

NOW WITH THE VIRTUAL EVENT WE'RE

ABLE TO ACCOMMODATE MORE PEOPLE

THAN EVER DESPITE THE

CHALLENGING CIRCUMSTANCES.

I WILL MISS TOURING PARTICIPANTS

AROUND THE HOSPITAL AT LUNCH AS

WE DID IN YEARS PAST.

YET PLEASE BE ASSURED THE

CLINICAL CENTER IS SAFELY

CARRYING ON ITS RESEARCH AND

PATIENT CARE MISSION, EVEN

THROUGH THE PANDEMIC.

OUTSTANDING RESEARCHERS WORKING

AT THE CLINICAL CENTER SUCH AS

DR. TIFT AND DR. BEVANS WILL

TAKE THE STAGE TODAY.

RESEARCH AT THE CLINICAL CENTER

IS A TEAM EFFORT, AND WE MUST

ACKNOWLEDGE KEY ROLES PLAYED BY

RESEARCH NURSES AND OTHER TEAM

MEMBERS.

PERHAPS SOME OF YOU SAW THE

CLINICAL CENTER'S PATIENT

RECRUITMENT OFFICE WAS ACTIVE IN

THE TWITTER CHAT.

IF YOU AREN'T A PATIENT HERE,

I'D LIKE TO INVITE YOU TO

CONSIDER EXPLORING A CLINICAL

TRIAL.

YOU CAN FIND INFORMATION ABOUT

NIH'S CLINICAL TRIALS ON THE

RARE DISEASE DAY EVENT APP, AND

ON THE HOSPITAL'S WEBSITE AT

CC.NIH.GOV.

THE CLINICAL CENTER'S QUEST FOR

DISCOVERIES IN A SAFE,

HIGH-QUALITY CARE ENVIRONMENT

GENERALLY HOLDS THREE AREAS OF

EMPHASIS, STUDY OF THE

PATHOPHYSIOLOGY OF DISEASE,

DEVELOPMENT OF NEW

FIRST-IN-HUMAN THERAPEUTICS, AND

DEDICATED RESEARCH ON RARE

DISEASES.

IN FOCUSING ON THESE THREE AREAS

WE STRIVE TO PROVIDE HOPE TO

PATIENTS AND THEIR FAMILIES.

MORE PATIENTS WITH RARE DISEASES

ARE SEEN AT OUR HOSPITAL THAN

ANYWHERE ELSE.

WHY DO WE STUDY RARE DISEASES?

FIRST OF ALL, THEY ARE NOT SO

RARE, ABOUT 7,000 TO 10,000 RARE

DISEASES AFFECT HUMANS OF WHICH

ONLY A FEW HUNDRED HAVE ANY

TREATMENT AVAILABLE IN THE U.S.

EACH RARE DISEASE DAY AFFECTS

FEWER THAN 200,000 INDIVIDUALS,

HOWEVER THESE AFFECT

COLLECTIVELY 30 MILLION PEOPLE

NATIONWIDE, INCREASING EVERY DAY

AS GENETIC BASIS FOR COMMON

DISORDERS ARE DISCOVERED.

OFTEN REVEALING COMMON DISEASES

ARE ACTUALLY A COLLECTION OF

DIFFERENT RARE DISEASES.

BREAST CANCER IS ONE SUCH

EXAMPLE.

SECOND, AS AMERICA'S RESEARCH

HOSPITAL, THE CLINICAL CENTER IS

UNIQUELY POISED TO BRING

TOGETHER PATIENTS WITH RARE

DISEASES FROM ALL OVER THE

NATION, AND INDEED PATIENTS FROM

ALL OVER THE WORLD.

WE CAN STUDY PATIENTS FOR LONG

PERIODS OF TIME, WE'RE GOOD AT

UNDERSTANDING DETAILS OF

PATIENT'S DISEASE, PHENOTYPING,

MAKING THIS A UNIQUE PLACE TO

STUDY RARE DISEASES.

THIRD, IN ADDITION TO PROVIDING

HOPE TO INDIVIDUALS, STUDY OF

RARE DISEASES CAN OFTEN HELP US

UNDERSTAND MORE COMMON AILMENT

THE.

SOMETIMES LOSS OF FUNCTION OF

ONE GENE PRODUCT AS MAY BE SEEN

IN A RARE DISEASE TELLS US

SOMETHING IMPORTANT ABOUT A

COMMON DISEASE.

ONE OFTEN TALKED ABOUT EXAMPLE

FROM THE CLINICAL CENTER

INVOLVES PATIENTS WITH CHRONIC

GRANULOMATOUS DISEASE, PATIENTS

WITH CGD HAVE WHITE BLOOD CELLS

THAT FAIL TO MAKE REACTIVE

OXYGEN PRODUCTS, AS A RESULT THE

PATIENT CAN HAVE RECURRING

LIFE-THREATENING INFECTIONS.

WE FOUND DESPITE SERIOUS MEDICAL

PROBLEMS, CGD PATIENTS ARE

PROTECTED FROM ATHEROSCLEROSIS

IN CAROTID ARTERIES, SUGGESTING

THE MISSING ENZYME COULD NEED TO

A NEW METHOD OF TREATING OR

PREVENTING ATHEROSCLEROSIS IN

THE GENERAL POPULATION.

RARE DISEASE DAY IS ABOUT

SCIENCE AND MEDICINE THEY MUST

ENCOMPASS STORIES OF PEOPLE

COPING WITH RARE DISEASE,

FAMILIES LIVING A RARE DISEASE

SUFFERER, COMMUNITIES AND

MEMBERS OF ADVOCACY

ORGANIZATIONS, NARRATIVES MATTER

AND IT'S VITAL YOU'RE OUR

PARTNERS.

THANK YOU FOR PARTICIPATING AND

BEING PARTNERS WITH THE NIH IN

THIS IMPORTANT WORK.

>> HELLO, EVERYONE.

WELCOME TO RARE DISEASE DAY

2022.

I'M HONORED TO BE HERE TODAY TO

HELP YOU SHINE A LIGHT ON RARE

DISEASES.

AND FOR THE NEXT 15 MINUTES, TO

SHINE A LIGHT ON CAREGIVERS OF

INDIVIDUALS WITH RARE DISEASES.

THE JOURNEY WITH A RARE DISEASE

CAN BE UNIQUE FOR EACH

INDIVIDUAL, AND CAN HAVE SOME

VERY COMMON ELEMENTS THAT MANY

EXPERIENCE.

OBVIOUSLY, RARE DISEASES IMPACT

300 MILLION PEOPLE GLOBALLY.

30 MILLION OF THEM HERE IN THE

U.S. ALONE.

MANY RARE DISEASES ARE

ASSOCIATED WITH A LENGTHY TIME

TO DIAGNOSIS, AND MANY ARE MORE

CHRONIC IN NATURE WITH ELEMENTS

THAT ALTHOUGH MANAGED MAY ALWAYS

BE PART OF ONE'S LIFE.

ANOTHER COMMONALITY IS THAT RARE

DISEASES AFFECT MORE THAN THE

INDIVIDUAL WITH THE DISEASE.

THEY AFFECT MANY OTHERS,

INCLUDING FAMILY MEMBERS, OFTEN

PARENTS, WHO SERVE AS CAREGIVERS

FOR THESE INDIVIDUALS.

THESE ARE CAREGIVERS WHO ARE NOT

PROFESSIONALLY PAID, THEY ARE

NOT SPECIFICALLY TRAINED.

THEY ARE GIVING OF THEMSELVES

UNCONDITIONALLY TO THOSE THEY

LOVE TO MAKE A DIFFERENCE IN

THEIR LIFE.

NOW, THERE ARE MANY RARE

DISEASES BUT I JUST WANT TO

CENTER US BY STARTING THE

CONVERSATION WITH ONE.

THAT IS POMPE'S DISEASE, THE

METABOLIC DISORDER ALSO KNOWN AS

GLYCOGEN STORAGE DISORDER.

IT AFFECTS 1 IN 40,000

INDIVIDUALS IN THE UNITED STATES

ALONE.

IT RESULTS FROM PATHOLOGICAL

MUTATION IN THE GAA GENE, WHICH

IS RESPONSIBLE FOR FOR PRODUCING

AN ENZYME THAT HELPS TO TAKE

GLYCOGEN AND CONVERT TO GLUCOSE,

WHICH IS A SOURCE OF ENERGY FOR

THE BODY.

IT COMES FROM -- CONSIDERED AN

AUTONOMIC RECESSIVE DISORDER,

MEANING THAT TWO INDIVIDUALS WHO

ARE CARRIERS, WHEN THEY MAKE AN

OFFSPRING, EACH OFFSPRING HAS

25% CHANCE OF BEING AFFECTED BY

THAT DISEASE, EVEN THOUGH THE

PARENTS DID NOT HAVE THE

DISEASE.

THEY WERE ONLY CARRIERS.

THERE ARE TWO TYPES OR TWO

FORMS, ONE BEGINS AS AN INFANT,

THE OTHER IS LATER IN LIFE

USUALLY AFTER 12 MONTHS.

IT CAN INVOLVE MANY DIFFERENT

PARTS OF THE BODY, THE HEART AS

WELL AS MANY MUSCLES CREATING

SIGNIFICANT WEAKNESS INCLUDING

MUSCLES OF THE RESPIRATORY

SYSTEM.

IN 2006, THERE WAS A LIGHT

SHINED ON POMPE'S DISEASE WHEN

THE FDA APPROVED A SPECIFIC

TREATMENT, THE ONLY TREATMENT,

WHICH IS AN ENZYME REPLACEMENT

THERAPY THAT IS GIVEN EVERY

OTHER WEEK THROUGH AN IV TO

INDIVIDUALS WITH THIS DISEASE.

AND WITH THAT, THEN FOLLOWED

NEWBORN SCREENING, CURRENTLY IN

20 STATES PLUS DISTRICT OF

COLUMBIA FOR POMPE'S DISEASE

UPON BIRTH.

ANOTHER WAY TO TELL THIS STORY

IS TO INTRODUCE YOU TO LENA, MY

GRANDDAUGHTER, BORN IN JULY OF

2019, HERE IN THE STATE OF

MARYLAND, WHO IMPLEMENTED

NEWBORN SCREENING, ONE MONTH

BEFORE SHE WAS BORN.

I'D LIKE TO ALSO INTRODUCE YOU

TO HER CAREGIVERS.

THIS IS HER MOM, MY DAUGHTER,

WHO IS A PRIMARY CAREGIVER FOR

LENA.

THIS WAS JUST ONE EXPERIENCE

WHERE THEY WERE IN THE HOSPITAL,

AND GOT TO SEE THE SUNRISE WHEN

THEY WERE AT CHILDREN'S AS IT

CAME UP IN THE MORNING WHEN LENA

WAS ADMITTED FOR ADDITIONAL

CARE.

THIS IS HER POP-POP, MY HUSBAND,

WHO SPENDS EVERY TUESDAY WITH

HER.

AND ONE OF THOSE TUESDAYS EVERY

OTHER MONTH IS HER TREATMENT

TUESDAY WE CALL IT WHERE SHE

IS -- HER INJECTION IN A PORT SO

SHE CAN RECEIVE ENZYME

REPLACEMENT, HE SITS WITH HER.

THERE'S HER FATHER, ALEX, WHO ON

THIS PARTICULAR DAY IS MAKING

SURE SHE FEELS LIKE EVERY OTHER

CHILD, NOT ONE NECESSARILY WHO

IS UNIQUE IN ANY SPECIFIC WAY.

BUT A CHILD JUST HAVING FUN WITH

HER DOG IN THE SNOW WHICH MEANT

A LOT TO ALL OF US.

SO NOW LET'S SHINE A LOT ON ALL

OF THESE CAREGIVERS, ALL OF YOU

OUT THERE WHO ARE CAREGIVERS FOR

JUST A FEW MINUTES BEFORE YOU

GET BACK TO SHINING A LIGHT ON

ALL THE RESEARCH UPDATES FOR

RARE DISEASE TODAY.

CARING FOR PEOPLE WITH RARE

DISEASE IS AS UNIQUE AS THE

DISEASE ITSELF.

THERE ARE DIFFERENT LEVELS OF

CARE THAT INDIVIDUALS MAY NEED.

THERE MAY BE TREATMENTS.

THERE MAY NOT BE TREATMENTS

AVAILABLE AT THIS TIME.

IT MAY BE THAT YOU'RE THE ONLY

CAREGIVER OR YOU MAY HAVE A TEAM

AROUND YOU.

THERE ARE OTHER THINGS THAT CAN

BE COMPETING FOR THAT CARE,

WHETHER CARE FOR OTHER CHILDREN

OR OLDER FAMILY MEMBERS WHO ARE

LIVING IN THE SAME HOME.

THERE ARE MANY ROLES AND

RESPONSIBILITIES ASSOCIATED WITH

THIS PARTICULAR ROLE OF

CAREGIVING FOR INDIVIDUALS WITH

RARE DISEASE.

AND YOU MAY BE WORKING OR NOT

WORKING.

EVERY SITUATION IS DIFFERENT.

OF COURSE, THE CAREGIVER

THEMSELVES MAY HAVE ISSUES WITH

THEIR HEALTH THAT ALSO NEED

ATTENTION.

WELL, ALL OF THE EXPERIENCE MAY

BE UNIQUE FOR EACH CAREGIVER AND

RELATED PATIENT.

A COMMON LET IS THAT CAREGIVING

IS A CHRONIC STRESSOR.

IT IS A COMPLEX AND COMPLICATED

EXPERIENCE THAT INCLUDES

MULTIPLE COMPETING PRIORITIES.

OFTEN THERE ARE SIGNS AND

SYMPTOMS PRESENT OF THIS STRESS

THAT COULD INCLUDE ANXIETY,

DEPRESSION, WORRY, FEELINGS OF

LONELINESS.

OFTEN, THE CAREGIVERS NEED TO

MODIFY LIFESTYLE AND RESTRICT

LEISURE ACTIVITY TO BE ABLE TO

CARE FOR THEIR LOVED ONES.

AND OFTEN THERE ARE MANY

HEALTH-RELATED PROBLEMS THAT CAN

PRESENT THEMSELVES, WHETHER IT'S

FATIGUE OR DIFFICULTY SLEEPING

THAT CAN CARRY OVER FOR THOSE

CAREGIVERS.

AND MANY OF THESE CREATE CHANGES

IN OUR BODY THAT CAN AFFECT OUR

IMMUNE SYSTEM, AS WELL AS OUR

HEART.

AND THESE ARE STUDIES -- AREAS

THAT ARE BEING STUDIED MORE AND

MORE TRYING TO UNDERSTAND WHAT

THIS CHRONIC STRESSOR DOES TO

INDIVIDUALS AND THEIR OVERALL

HEALTH.

SO WE KNOW THIS EXPOSURE TO THIS

STRESSOR OF CAREGIVING CAN ALSO

IMPACT ONE'S QUALITY OF LIFE.

AND THE FINDINGS ON THE SLIDE

ARE FROM A STUDY THAT WAS DONE

IN PARENTS OF CHILDREN WITH RARE

DISEASE.

WE SEE THAT PARENTS OF

INDIVIDUALS WITH RARE DISEASE

WILL HAVE A QUALITY OF LIFE THAT

IS SLIGHTLY LOWER THAN

UNAFFECTED BY RARE DISEASE.

WE ALSO KNOW FROM THIS STUDY

THAT THE AREAS OF PSYCHOSOCIAL

QUALITY OF LIFE ARE MORE

AFFECTED IN THESE CAREGIVERS

THAN PHYSICAL QUALITY OF LIFE.

AND YOU CAN SEE HERE ON THE

SLIDE AS WELL, A LIST OF

PREDICTORS, THINGS THAT IF

PRESENT MAY IMPACT THE

CAREGIVER'S QUALITY OF LIFE MORE

THAN IF THEY ARE NOT CURRENTLY

PART OF THE CAREGIVING JOURNEY.

SO IN SUMMARY, CARING FOR

ANOTHER PERSON, NO MATTER HOW

MUCH YOU LOVE THEM, IS HEAVY.

AND YES, THERE ARE MANY POSITIVE

ASPECTS OF CARING FOR PEOPLE WE

LOVE, FINDING MEANING, AND BEING

CONNECTED WITH THEM IN WAYS WE

MAY NOT HAVE BEEN WHICH ARE ALL

VERY MUCH A PART OF THE JOURNEY

AS WELL.

BUT I AM HERE TO MAKE SURE THAT

YOU UNDERSTAND TODAY THAT

BALANCING IS A KEY PART OF

BUILDING RESILIENCE SO THAT YOU

CAN BE THERE FOR YOUR LOVED ONE.

SO CARING FOR SELF IS CRITICALLY

IMPORTANT.

AND SO THAT MEANS NOT ONLY ARE

YOU CARING FOR YOUR LOVED ONE

EVERY DAY, BUT YOU ARE SETTING

SPECIFIC SELF-CARE OBJECTIVES OR

GOALS AS WELL.

THAT YOU'RE GIVING ATTENTION TO

YOUR OWN EMOTIONAL HEALTH AND

SPIRITUAL HEALTH.

YOU ARE PAYING ATTENTION TO YOUR

PHYSICAL HEALTH WITH NUTRITION

AND ACTIVITY.

YOU ARE MAKING SURE THAT IF

THERE ARE ANY AREAS OF THAT

MEDICAL CARE OR CARE YOU PROVIDE

THAT YOU DON'T UNDERSTAND, THAT

YOU TALK WITH YOUR PROVIDERS AND

LEARN AND GET TRAINED SO YOU CAN

BE CONFIDENT WITH CARE YOU

PROVIDE.

STRESS MANAGEMENT OVERALL, SINCE

THIS IS A CHRONIC STRESSOR, THAT

YOU PAY ATTENTION TO YOUR LEVEL

OF STRESS AND FIND THAT BALANCE,

SO THAT YOU CAN BE STRONG.

SO TO HELP WITH THIS BALANCE,

YOU'RE NOT ALONE.

THERE ARE MANY PROFESSIONAL

INTERVENTIONS THAT YOUR

PROVIDERS CAN REFER YOU FOR

WHICH CAN HELP SUPPORT YOU AND

BUILD RESILIENCE.

THE INFORMATION HERE ON THIS

SLIDE COMES FROM A PAPER THAT

REVIEWED 34 STUDIES INCLUDING

PSYCHOSOCIAL INTERVENTIONS FOR

CAREGIVERS OF INDIVIDUALS WITH

RARE DISEASE.

AND YOU CAN SEE THERE ARE MANY

DIFFERENT TYPES OF

INTERVENTIONS.

AND MANY ARE ASSOCIATED WITH

IMPROVED OUTCOMES.

REDUCING STRESS, AS WELL AS

DECREASING THE OVERALL SENSE OF

BURDEN, AND IMPROVING FEELINGS

OF ISOLATION.

IT'S IMPORTANT TO NOTE, HOWEVER,

THAT TO HELP OUR CAREGIVERS FIND

AND MAINTAIN PARTICIPATION IN

THESE SUCCESSFUL INTERVENTIONS,

THEY NEED TO BE APPROPRIATELY

ALIGNED WITH THE NEEDS OF THAT

CAREGIVER, OR THOSE CAREGIVERS,

AND BE ACCESSIBLE.

ADDITIONALLY, THERE ARE EVERYDAY

INTERVENTIONS TO SUPPORT

BALANCE.

AND I JUST WANT TO TAKE A MINUTE

TO START THIS SLIDE BY SAYING

PERMISSION GRANTED, TO ALL OF

YOU CAREGIVERS OUT THERE, TO

TAKE CARE OF YOURSELF.

CAREGIVERS WILL NOT GIVE

THEMSELVES PERMISSION TO TAKE

CARE OF THEMSELVES ON A ROUTINE

BASIS.

SO I'M HERE TODAY TO MAKE A

UNIVERSAL STATEMENT OF

PERMISSION FOR ALL CAREGIVERS,

OF THOSE WITH RARE DISEASE, TO

PARTICIPATE IN THESE EVERYDAY

SELF-CARE ACTIVITIES, SO THAT

YOU CAN MAINTAIN AND GROW YOUR

RESILIENCE.

FINDING SUPPORT FOR JUST YOU, SO

THAT YOU CAN SHARE YOUR

FEELINGS, CAN BE VERY HELPFUL.

IMPROVING THE COMMUNICATION

STRATEGIES WITH YOUR FAMILY,

FRIENDS, AND PROVIDERS.

DELEGATING TO FRIENDS AND

FAMILY, ON AREAS THAT YOU CAN

LET GO OF, SO THAT YOU CAN FIND

TIME FOR YOU TO EXERCISE, TO GET

THOSE 30 MINUTES -- THAT

30-MINUTE WALK OUT IN NATURE,

WHICH IS KNOWN TO HELP US REDUCE

STRESS.

FINDING TIME FOR YOUR SPIRITUAL

GROWTH, AND MOST IMPORTANTLY,

FINDING TIME TO BE MINDFUL.

BEING PRESENT IN EVERY DAY,

EVERY MOMENT OF EVERY DAY, TO

THE BEST OF YOUR ABILITY, SO

THAT YOU CAN HAVE THAT STRESS

MANAGED.

THE NIH CLINICAL CENTER ALSO

CARES VERY MUCH ABOUT HOW YOU'RE

DOING.

AND THERE ARE MANY RESOURCES

RIGHT HERE AT THE CLINICAL

CENTER.

THERE'S A WEBSITE, THE ADDRESS

IS LISTED THERE.

YOU CAN GO AND LINK TO THEIR

RESOURCES, AND THEY HAVE

CLINICAL CENTER RESOURCES AS

WELL AS FEDERAL AND NON-FEDERAL

RESOURCES THAT YOU MIGHT FIND

HELPFUL.

SO IN SUMMARY, AS THE CAREGIVER

YOU ARE, A KEY MEMBER, A VERY

IMPORTANT MEMBER OF THE TEAM,

AND SO YOU NEED TO STAY STRONG,

SO THAT YOU SHOW UP WITH YOUR

BEST TO HELP THOSE YOU LOVE.

SO AS YOU PRIORITIZE YOUR

SELF-CARE, REMEMBER THE ACRONYM

TO REST.

TO RELAX, EAT HEALTHY, AND STAY

ACTIVE.

SLEEP, AND TAKE CARE OF

YOURSELF.

AND NATIONAL HEART, LUNG AND

BLOOD INSTITUTE HAS MANY, MANY

RESOURCES ON THEIR WEBSITE AS

WELL, TO HELP WITH SLEEP, AND

STRATEGIES FOR HEALTHY HEART.

AND IN ADDITION, I JUST WANT TO

TAKE TIME TO CALL OUT TO OUR

PROVIDERS WHO ARE CARING AND

ENGAGING WITH OUR FAMILY

CAREGIVERS.

THERE ARE NOT A LOT OF VERY

SPECIFIC STRATEGIES IN THE

LITERATURE THAT HAVE BEEN

DEVELOPED SPECIFICALLY FOR

CAREGIVERS OF THOSE WITH RARE

DISEASE.

HOWEVER, THERE IS AN EXTENSIVE

BODY OF LITERATURE ON CAREGIVERS

MORE BROADLY, AND MANY OF THOSE

PRINCIPLES ARE THE SAME.

AND ONE I WANTED TO HIGHLIGHT

OUT OF A PAPER IN JAMA, IS THAT

ASKING, ARE YOU OKAY, IS JUST

NOT ENOUGH.

WE NEED TO GO DEEP WITH OUR

CAREGIVERS.

SHINE THE LIGHT ON THEM WHENEVER

WE HAVE AN ENCOUNTER WITH OUR

PATIENTS.

AND ASK SPECIFIC QUESTIONS TO

MAKE SURE WE UNDERSTAND, REALLY,

HOW THEY ARE DOING.

SO WITH THAT, I WILL CLOSE AND

THANK YOU ALL FOR GIVING ME THE

OPPORTUNITY TO BE HERE TODAY.

AND I HOPE YOU CONTINUE TO ENJOY

SHINING A LIGHT ON RARE DISEASES

IN 2022.

FAREWELL.

>> GOOD MORNING.

I'M LARRY TABAK, ACTING DIRECTOR

OF NIH.

IT IS MY HONOR TO WELCOME YOU TO

THIS YEAR'S RARE DISEASE DAY AT

NIH.

NIH IS PROUD TO BE A LONGTIME

SUPPORTER OF RARE DISEASE

RESEARCH, AND WE'RE DELIGHTED TO

REAFFIRM THAT COMMITMENT TODAY

AND EVERY DAY.

EVIDENCE OF OUR COMMITMENT CAN

BE SEEN ACROSS OUR RESEARCH

PORTFOLIO, IT'S REFLECTED, FOR

EXAMPLE, IN THE DEPTH TO

UNDERSTAND RESEARCH DISEASES, IN

THIS FEET ESPECIALLY TANGIBLE

PROGRESS HAS BEEN MADE.

FOR EXAMPLE, TAKE THE RECENTLY

LAUNCHED BESPOKE GENE THERAPY

CONSORTIUM, BGTC, WHICH IS PART

OF NIH'S ACCELERATING MEDICINE'S

PARTNERSHIP PROGRAM.

IT'S A PUBLIC/PRIVATE

PARTNERSHIP AMONG 11 NIH

INSTITUTES, CENTERS, AND

OFFICES, FDA, TEN PHARMACEUTICAL

COMPANIES, SEVEN NOT FOR PROFIT.

AMPBGDC IS ESTABLISHING

PLATFORMS AND STANDARDS TO SPEED

THE DEVELOPMENT AND DELIVERY OF

CUSTOMIZED OR BESPOKE GENE

THERAPIES.

THERAPIES THAT COULD TREAT

MILLIONS OF PEOPLE AFFECTED BY

RARE DISEASES, INCLUDING THOSE

DISEASES TOO RARE TO BE OF

COMMERCIAL INTEREST.

IT'S THE FIRST AMP INITIATIVE

FOCUSED ON RARE DISEASES, AND

THE FIRST TO FOCUS ON A

THERAPEUTIC PLATFORM.

NIH'S COMMITMENT TO RARE

DISEASES RESEARCH IS ALSO

EVIDENT IN THE RARE DISEASES

CLINICAL RESEARCH NETWORK,

RDCRN, WHICH INVOLVES TEN NIH

INSTITUTES, CENTERS AND OFFICES,

166 PATIENT ADVOCACY GROUPS, 20

CONSORTIA, AND A SINGLE DATA

MANAGEMENT AND COORDINATING

CENTER FOR THE NETWORK.

THROUGH THE RDCRN CONSORTIA,

PHYSICIAN-SCIENTISTS AND THEIR

MULTI-DISCIPLINARY TEAMS WORK

TOGETHER WITH PATIENT

ORGANIZATIONS AS ACTIVE RESEARCH

PARTNERS TO STUDY 181 RARE

DISEASES AT SITES ACROSS THE

NATION.

AMONG THE DISEASES BEING STUDIED

BY THE CONSORTIA ARE

GLYCOPROTEIN-RELATED RARE

DISEASE.

GAUCHER IS AN INHERITED DISORDER

THAT CAN IMPACT LIVES OF

INDIVIDUALS ACROSS THE LIFESPAN.

IT CAN BE DEVASTATING.

THE PERINATAL LETHAL FORM LEADS

TO INFANTS SURVIVING ONLY A FEW

DAYS.

GAUCHER'S CAN IMPACT MANY OF THE

BODY'S ORGANS AND TISSUES

INCLUDING BONE, LUNG, BLOOD,

CENTRAL NERVOUS SYSTEM, EYES,

SKIN.

A BROAD SCOPE IS NEEDED TO TRULY

GAIN A BETTER UNDERSTANDING OF

THE DISORDER.

THROUGH THE RDCRN LYSOSOMAL

DISEASE NETWORK, MULTIPLE NIH

INSTITUTES INCLUDING NINDS,

NIDDK AND IN THE CATS -- AND

NCATS TO HELP UNDERSTAND THE

FULL NATURE OF THE DIFFERENT

TYPES OF GAUCHER'S DISEASE.

NOW, WE'RE ALL AWARE OF HOW THE

ONGOING COVID PANDEMIC HAS

AFFECTED RESEARCH ON AND PATIENT

SUFFERING FROM DISEASES THAT ARE

NOT DIRECTLY COVID RELATED.

I DO WANT TO ASSURE YOU THAT NIH

CONTINUES TO ADDRESS OTHER

PRIORITIES AND DISEASES FOR

PATIENTS IN NEED, INCLUDING OF

COURSE THOSE WITH RARE DISEASES.

IN ADDITION, THERE ARE MANY

IMPORTANT LESSONS LEARNED FROM

COVID, INCLUDING PROGRESS IN

TELEMEDICINE, REMOTE CAPTURE,

SEAMLESS SCIENTIFIC SHARING, ALL

OF WHICH PROMISE TO ACCELERATE

PROMISE FOR RARE DISEASES AND

OTHER FAMILIES.

PATIENTS, FAMILIES, AND

PRACTITIONERS SHOULD LONG

BENEFITS FROM THESE ADVANCES.

TO CLOSE I'D LIKE TO OFFER A FEW

THANK YOUS, FIRST I WANT TO

THANK THE RARE DISEASE CAUCUS

CO-CHAIRS, SENATORS KLOBUCHAR

AND WICKER, REPRESENTATIVES

BUTTERFIELD AND BILIRAKIS.

WE APPRECIATE THEIR CONTINUED

SUPPORT.

I WOULD LIKE TO OFFER A SPECIAL

THANK YOU TO DR. ANNE PARISER,

WHO LED OUR OFFICE OF RARE

DISEASES RESEARCH.

SHE IS RECENTLY RETIRED FROM

FEDERAL SERVICE, AFTER DEVOTING

MUCH OF HER CAREER AT BOTH NIH

AND FDA TO RARE DISEASES.

THANK YOU, ANNE.

WE LOOK YOU AND THANK YOU FOR

ALL HELPING US HEIGHTEN PUBLIC

AWARENESS OF RARE DISEASES.

I UNDERSTAND THERE ARE A FEW

QUESTIONS THAT HAVE BEEN POSED,

SO I'D LIKE TO JUST TAKE A

COUPLE MINUTES, I PROMISE TO

KEEP US ON TIME, BUT I'D LIKE TO

TAKE A COUPLE MINUTES TO JUST

ANSWER A FEW OF THEM.

ONE OF THE QUESTIONS WHICH I

KNOW IS ON MANY PEOPLE'S MIND IS

WHAT PROGRESS IS BEING MADE TO

FIND THE PERMANENT DIRECTOR OF

THE NIH.

AS YOU KNOW, DR. INSURE STEPPED

DOWN IN LATE DECEMBER LAST YEAR.

THE QUESTIONER IS ASKING THE

PROCESS THAT OCCURS.

THE NIH DIRECTOR IS A

PRESIDENTIAL APPOINTMENT THAT

REQUIRES SENATE CONFIRMATION.

AND SO INDIVIDUALS WILL BE

PROVIDED, NAMES OF INDIVIDUALS

WILL BE PROVIDED TO THE

PRESIDENT FOR HIS CONSIDERATION,

HE WILL OF COURSE MAKE THE FINAL

DECISION AS TO WHO TO NOMINATE,

AND THEN THAT INDIVIDUAL WILL

NEED TO BE CONFIRMED BY THE U.S.

SENATE.

THE QUESTIONER GOES ON TO ASK IF

WHETHER OR NOT I'M A CANDIDATE

FOR THE POSITION.

AND I CAN INDICATE THAT I AM

NOT.

I AM DEEPLY PRIVILEGED TO SERVE

AS THE ACTING NIH DIRECTOR, BUT,

YOU KNOW, NO DOUBT THE PRESIDENT

WILL BE ABLE TO FIND AN

OUTSTANDING INDIVIDUAL TO ASSUME

THE, YOU KNOW, THE ROLE,

PERMANENT ROLE OF NIH DIRECTOR.

TIME PERHAPS FOR ONE OTHER

QUESTION.

AND THAT IS ASKING WHAT THE

NIH'S NUMBER ONE PRIORITY IS IN

2022.

AND I HAVE TO CONFESS, I CAN'T

DISTILL IT DOWN TO A SINGLE

PRIORITY.

BUT OBVIOUSLY, ALL OF US ARE

HERE IN SERVICE OF PATIENTS.

AND SO ALL THE THINGS THAT WE

DO, EITHER DIRECTLY OR

INDIRECTLY, ARE DESIGNED TO

IMPROVE THE LIVES OF OUR

PATIENTS.

WE HAVE A SERIES OF PRIORITIES

GOING FORWARD.

OBVIOUSLY WE'RE STILL WORKING

THROUGH ISSUES RELATED TO THE

PANDEMIC.

AS YOU JUST HEARD,

ADMINISTRATIVELY, WE WILL BE

GETTING READY TO WELCOME A NEW

PERMANENT NIH DIRECTOR.

AND AS MANY OF YOU KNOW,

STARTING WITH DR. COLLINS, NIH

MADE A MAJOR PRIORITY TO ENSURE

THAT WE HAVE EQUITY, BOTH IN

TERMS OF OUR RESEARCH EFFORTS,

BUT ALSO IN TERMS OF OUR

WORKFORCE.

AND SO CERTAINLY THESE ARE ALL

THINGS THAT WE WILL CONTINUE TO

WORK THROUGH VERY CLOSELY

THROUGHOUT THE YEAR 2022.

I WANT TO KEEP US ALL ON TIME.

AND SO I'M GOING TO TURN IT BACK

NOW TO THE ORGANIZERS OF THIS

MEETING.

BUT I DO WANT TO THANK YOU ALL

FOR JOINING AND LOOK FORWARD TO

GETTING A READOUT OF THE FULL

PROGRAM.

THANKS VERY MUCH.

>> I'M SENATOR ROGER WICKER FROM

MISSISSIPPI.

IT'S MY HONOR TO PARTNER WITH

YOU IN THE FIGHT AGAINST RARE

DISEASES.

THE NIH HAS PLAYED AN

INDISPENSABLE ROLE IN THE FIGHT

BRINGING HOPE TO MILLIONS OF

AMERICANS.

BY INVESTING IN THE NIH WE EQUIP

OUR BEST SCIENTISTS TO DEVELOP

CURES AND TREATMENTS THAT COULD

SAVE LIVES.

WITH OVER 25 MILLION AMERICANS

LIVING WITH RARE DISEASES, AND

350 MILLION AFFECTED WORLDWIDE,

IT IS ESSENTIAL THAT WE CONTINUE

THIS IMPORTANT WORK.

IN 2016, THE NIH SAW ITS LARGEST

FUNDING INCREASE IN A DECADE,

AND HAS CONTINUED TO RECEIVE

SUBSTANTIAL FUNDING EACH

SUBSEQUENT YEAR.

EVERY DOLLAR IS CRITICAL TO

FINDING SOLUTIONS TO THE MORE

THAN 7,000 TYPES OF RARE

DISEASES IN THE UNITED STATES.

MANY OF WHICH DISPROPORTIONATELY

AFFECT CHILDREN.

ALTHOUGH THE FOOD AND DRUG

ADMINISTRATION HAS APPROVED OVER

800 DRUGS AND PRODUCTS FOR THE

TREATMENT OF RARE DISEASES,

MILLIONS OF AMERICANS STILL

SUFFER FROM AILMENTS THAT HAVE

NO APPROVED OPTIONS FOR

TREATMENT.

AS CO-CHAIR OF THE RARE DISEASE

CAUCUS, I HAVE INTRODUCED THE

BENEFIT ACT, THIS CRITICAL

BIPARTISAN LEGISLATION WOULD

ELEVATE THE ROLE OF PATIENTS IN

THE DRUG APPROVAL PROCESS

ENSURING PATIENT EXPERIENCE IS

CONSIDERED.

THE BILL WOULD WORK TO IMPROVE

FDA'S BENEFIT-RISK FRAMEWORK,

IMPORTANT STEP IN THE DRUG

APPROVAL PROCESS.

I INTEND TO PRESS FORWARD IN

THIS FIGHT.

THERE'S STILL CHALLENGES AHEAD

BUT GAINS WE'VE MADE HOLD

PROMISE OF EVEN GREATER

BREAKTHROUGHS TO COME.

THANK YOU.

>> THANK YOU FOR INVITING ME TO

SPEAK AT NIH'S RARE DISEASE DAY.

I WANT TO ESPECIALLY THANK NIH

FOR ITS TREMENDOUS WORK DURING

THE PANDEMIC.

RARE DISEASE DAY LOOKS LIKE A

LITTLE BIT DIFFERENT THIS YEAR,

BUT IT IS SO WONDERFUL TO SEE

THE VITAL WORK MOVING FORWARD

DURING THESE DIFFICULT TIMES.

EACH OF YOU ARE SO IMPORTANT TO

THESE FAMILIES, AND INDIVIDUALS

ACROSS THE COUNTRY LIVING WITH

RARE DISEASE DIAGNOSES, STILL

SEEKING ANSWERS.

THE WORK YOU DO IS INCREDIBLY

IMPORTANT.

I'M THRILLED TO PARTICIPATE IN

THIS VIRTUAL CONFERENCE.

THE NIH THROUGH THE NATIONAL

CENTER FOR ADVANCING

TRANSLATIONAL SCIENCES AND NIH

CLINICAL CENTER IS DOING

INCREDIBLE WORK, ADVANCING

TREATMENTS AND CURES FOR RARE

DISEASES.

IF WE WANT TO COMBAT RARE

DISEASES, WE MUST INCREASE OUR

INVESTMENTS IN RESEARCH, EXPAND

AND ENCOURAGE PARTICIPATION IN

CLINICAL TRIALS AND CREATE

INCENTIVES TO DEVELOP THE NEXT

GENERATION OF TREATMENTS AND

CURES.

THIS MEANS GETTING BUY-IN FROM

MEMBERS OF CONGRESS SO WE CAN

PASS BILLS TO HELP ACCELERATE

RESEARCH AND SPUR INNOVATION AND

THAT'S WHERE IT FITS INTO

TODAY'S PROGRAM.

I SERVE AS CO-CHAIR OF THE

CONGRESSIONAL RARE DISEASE

CAUCUS, THIS CAUCUS SERVES AS

INFORMATIONAL HUB FOR MEMBERS OF

CONGRESS AND THEIR STAFF.

WE WORK TO EDUCATE MEMBERS ON

ISSUES FACING THE RARE DISEASE

COMMUNITY, INVESTMENTS TO

DEVELOP TREATMENT AND CURES.

ECONOMIC IMPACT, CHALLENGES IN

GETTING DIAGNOSIS, ACCESSING

SPECIALISTS, IMPORTANCE OF

NEWBORN SCREENING PROGRAMS.

LAST YEAR WE HAD SUCCESS IN

ACHIEVING A FOUR-YEAR EXTENSION

OF THE RARE PEDIATRIC DISEASE

PRIORITY REVIEW VOUCHER PROGRAM,

I WILL WORK TO ENSURE YOU WILL

HAVE FUNDING IN THIS CONGRESS, I

WILL WORK TO ENSURE YOU HAVE

FUNDING TO CONTINUE RESEARCHING

AND ADVOCATING FOR TREATMENTS.

I'M GRATEFUL FOR ALL OF THE WORK

THAT NIH DOES.

I'M GRATEFUL FOR THE WORK THE

PARTNERS DO.

I'M PROUD TO STAND WITH EACH OF

YOU IN THE RARE DISEASE

COMMUNITY.

PLEASE KNOW YOU HAVE AN ADVOCATE

IN CONGRESS AND I WILL CONTINUE

TO BE YOUR CHAMPION IN THIS

FIGHT.

THANK YOU SO VERY MUCH.

>> OBVIOUSLY THE PARTICIPATE IN

THE RARE DISEASE 2022 AT NIH,

I'M CONGRESSMAN GUS BILIRAKIS

AND HAVE THE PRIVILEGE TO SERVE

AS A MEMBER OF THE ENERGY

COMMERCIAL SUBCOMMITTEE ON

HEALTH AS WELL AS SERVING AS

CO-CHAIR OF THE RARE DISEASE

CAUCUS HERE IN THE UNITED STATES

CONGRESS.

FOR ME, THIS WORK IS PERSONAL

BECAUSE I HAVE CLOSE FAMILY

MEMBERS AND FRIENDS WHO HAVE AND

CONTINUE TO SUFFER WITH RARE

DISEASES, UNFORTUNATELY.

I KNOW THE COST, BOTH IN

FINANCIAL TERMS BUT ALSO THE

HUMAN TOLL THAT BATTLING A RARE

DISEASE INFLICTS UPON THE

PATIENTS AND OF COURSE THEIR

LOVED ONES AND THEIR CARETAKERS.

AS YOU ALL KNOW, RARE DISEASES

ARE NOT A RARE PROBLEM.

AND THERE ARE ESTIMATED 7,000

RARE DISEASES WHICH AFFECT MORE

THAN 30 MILLION AMERICANS.

AND NEARLY 95% OF THESE

CONDITIONS HAVE NO KNOWN

TREATMENT OR CURE.

WE MADE SOME ADVANCES, BUT IT'S

JUST CLEARLY NOT ENOUGH.

WITH EACH RARE DISEASE IMPACTING

SMALLER PATIENTS, PATIENT

POPULATIONS, THERE ARE

CHALLENGES IN GETTING RESEARCH

AND ATTENTION EACH OF THE

PATIENTS DESERVE.

FOR THIS REASON, I'VE BEEN A

HUGE PROPONENT OF FEDERAL

INVESTMENTS IN RESEARCH THAT CAN

PROVIDE HOPE AND POTENTIAL FOR

CURES FOR MANY RARE DISEASES.

I'M PROUD MOST RECENT BUDGET WE

PASSED INCLUDES A SUBSTANTIAL

INCREASE FOR NIH.

MOST EVERYONE AGREES WE NEED TO

FUND NIH.

ADEQUATELY.

INCLUDING FUNDS FOR CONGENITAL

HEART DISEASE RESEARCH FOR

DEVELOPMENT OF A NATIONAL

NEUROLOGICAL CONDITION

SURVEILLANCE SYSTEM.

AND FOR NATIONAL ALS REGISTRY.

AND BIOREPOSITORY.

RESEARCH IS THE KEY, LADIES AND

GENTLEMEN, AND BIOMEDICAL

RESEARCH SAVES LIVES.

I'M GLAD TO SEE THIS CONTINUES

TO BE AN NIH THAT BRINGS

TOGETHER MEMBERS OF CONGRESS

ACROSS BOTH AISLES, SO VERY

IMPORTANT, WE WORK ACROSS THE

AISLE ON THIS PARTICULAR ISSUE.

I WAS PROUD TO CO-SPONSOR THE

TRANSPLANT ACT WITH

REPRESENTATIVE DORIS MATSUI LAST

YEAR, REAUTHORIZING THE CW BILL

YOUNG CELL TRANSPLANTATION

PROGRAM, NATIONAL CORD BLOOD

INVENTORY.

IT WILL HELP TENS OF THOUSANDS

OF AMERICANS OF ALL AGES WHO

SUFFER WITH DISEASES LIKE RARE

BLOOD CANCERS, SICKLE CELL

ANEMIA, AND OTHER INHERITED

METABOLIC OR IMMUNE DISORDERS.

AGAIN, IT WAS REAUTHORIZED.

SAVED SO MANY LIVES OVER THE

YEARS, THIS NEW LAW AND NEW

LEGISLATION PROVIDES HOPE TO

THOSE WHO ARE STRUGGLING WITH

LIFE-THREATENING ILLNESSES.

THAT'S OUR GOAL.

ADDITIONALLY, I'M PARTICULARLY

PROUD OF THE LEGISLATION I'M

LEADING WITH MY RARE DISEASE

CAUCUS CO-CHAIRS REPRESENTATIVE

C K BUTTERFIELD IN THE HOUSE AND

SENATORS KLOBUCHAR AND SENATOR

WICKER IN THE SENATE.

THE SPEEDING THERAPY ACCESS

TODAY OR H.R. 1730, WE NEED HELP

WITH THAT, TO MAKE SURE OUR

LEGISLATORS ARE AWARE OF THIS

AND I APPRECIATE ALL THE

ADVOCACY THAT YOU DO WITH REGARD

TO EVERYTHING, BUT ALSO

SPECIFICALLY THIS PARTICULAR

BILL WHICH WILL GO A LONG WAY.

THIS BILL WOULD ENACT TARGETED

IMPACTFUL AND ATTAINABLE POLICY

REFORMS AT THE FDA, AND ACROSS

HHS, TO ACCELERATE DEVELOPMENT

OF THERAPIES ACROSS THE SPECTRUM

FOR RARE DISEASES AND DISORDERS

AND FACILITATE PATIENT ACCESS TO

THESE THERAPIES.

THE STAT ACT WILL IMPROVE ACCESS

TO THERAPIES FOR THE RARE

DISEASE COMMUNITY INCLUDING

PATIENTS LIVING WITH AN ULTRA

RARE DISEASE BY PROMOTING BETTER

INTERGOVERNMENTAL COORDINATION,

THAT'S THE KEY, AND ADVANCING

SCIENCE-BASED REGULATORY

POLICIES.

WHAT ARE THE MOST EXCITING

ASPECTS OF THE BILL, ONE IS THE

CREATION OF INTERCENTER

INSTITUTE ON RARE DISEASES AND

CONDITIONS WITHIN THE FDA.

THE INTERCENTER, INSTITUTE

MODEL, WAS FIRST AUTHORIZED

THROUGH THE 21ST CENTURY CURES

ACT, USED SUCCESSFULLY TO SPUR

DEVELOPMENT OF BETTER TREATMENTS

FOR CANCER.

WE WANT TO REPLICATE THAT

SUCCESS FOR THE RARE DISEASE

COMMUNITY.

THE STAT ACT WOULD CRE AIR THE

RARE DISEASE ADVISORY COMMITTEE

AT HHS WITH MEMBERSHIP OF

SCIENTIFIC AND MEDICAL EXPERTISE

TO ADVISE ON REGULATORY PATHWAYS

IN REVIEW OF TREATMENTS,

INNOVATIVE AND CLINICAL TRIAL

DESIGN, QUALIFICATIONS OF

BIOMARKERS, STANDARDS ON THE

POTENTIAL REPURPOSES DRUGS TO

TREAT RARE DISEASES.

WE HAVE SO MUCH EVIDENCE THAT

THAT WORKS AS WELL.

I'M EXCITED ABOUT THIS

LEGISLATION AND HAVE BEEN

WORKING TO HELP SECURE

ADDITIONAL CO-SPONSORS ON BOTH

SIDES OF THE AISLE WHERE YOU CAN

HELP ME.

I'LL ALSO BE LOOKING FOR OTHER

ADDITIONAL LEGISLATIVE VEHICLES,

THIS YEAR, MUST-PASS BILLS, TO

GET THIS BILL ACROSS THE FINISH

LINE AS ONE OF MY TOP

PRIORITIES.

THESE ARE JUST A COUPLE OF THE

MANY ITEMS WE'RE WORKING ON, AS

CHAMPIONS OF THE RARE DISEASE

COMMUNITY.

WE'RE WORKING TOGETHER.

IT IS AN HONOR TO SPEAK BEFORE

YOU TODAY, AND TO THANK YOU FOR

ALL YOU DO AS PART OF THIS

COMMUNITY.

IN THE GREAT WORDS OF HELEN

KELLER, I QUOTE, ALONE WE CAN DO

SO LITTLE.

BUT TOGETHER WE CAN DO SO MUCH.

IT'S SO VERY TRUE.

LAWMAKERS AND GOVERNMENT

OFFICIALS MEET WITH MANY PEOPLE

EACH DAY BUT I HAVE FOUND THAT

IT IS THE PERSONAL INDIVIDUAL

STORIES THAT TRULY MAKE THE

BIGGEST IMPACT, PARTICULARLY ON

THIS ISSUE.

SHARING THE CHALLENGES THAT YOU

AND YOUR LOVED ONES FACE DUE TO

RARE DISEASES CAN HELP TO GARNER

MUCH-NEEDED SUPPORT FOR THE

LEGISLATIVE AND REGULATORY

CHANGES WE AS A RARE DISEASE

COMMUNITY ARE HOPING TO MAKE TO

GET RECOGNITION, DIAGNOSIS, AND

ULTIMATELY TREATMENTS AND CURES.

THAT'S THE GOAL.

SO THANK YOU FOR GETTING OUTSIDE

YOUR COMFORT ZONE.

AND MAKING A POSITIVE DIFFERENCE

IN THE LIVES OF THOSE LIVING

WITH RARE DISEASES.

I KNOW YOU WILL CONTINUE TO DO

GREAT WORK.

AGAIN, THANK YOU FOR

PARTICIPATING TODAY.

AND THANK YOU FOR YOUR SUPPORT

OF THIS WORTH WHILE ENDEAVOR.

I WILL TELL YOU THIS.

HOPEFULLY NEXT YEAR WE WILL MEET

IN PERSON, BUT THANK YOU FOR ALL

YOUR GREAT WORK.

>> I'M VINCE BONHAM, ACTING

DEPUTY DIRECTOR OF THE HUMAN

HUMAN GENOME INSTITUTE.

SESSION 1, THE ISSUE OF THINKING

ABOUT EQUITY OF CARE IN RARE

DISEASE IS AN IMPORTANT ISSUE

THAT THE COMMUNITY HAS BEEN

THINKING ABOUT.

SO I WANT YOU TO THINK ABOUT

THIS QUESTION.

WHAT DOES HEALTH EQUITY MEAN FOR

RARE DISEASE RESEARCH AND

CLINICAL CARE?

HOW CAN WE IMPROVE EQUITY IN THE

WORK WE'RE DOING?

THIS IS NOT A NEW ISSUE FOR THE

FIELD OF RARE DISEASE.

THE COMMUNITY ACROSS THE COUNTRY

AND THE GLOBE IS THINKING ABOUT

THIS QUESTION OF EQUITY AND HOW

DO WE BRING EQUITY INTO RARE

DISEASE.

AN AREA WITH SIGNIFICANT ISSUES

OF HEALTH DISPARITIES,

DIFFERENCES WITH REGARDS TO

ACCESS TO CARE, HOW DO WE

PROVIDE MORE EQUITY FOR

INDIVIDUALS ACROSS THE UNITED

STATES AND GLOBALLY?

I'M AT THE NATIONAL INSTITUTES

OF HEALTH.

IT IS THE LEADING RESEARCH

INSTITUTION IN OUR COUNTRY.

THIS IS AN IMPORTANT AREA FOR US

WITH REGARDS TO THINKING ABOUT

ISSUES OF EQUITY, JUSTICE,

BIOMEDICAL RESEARCH.

IN MARCH OF 2021, NIH

ESTABLISHED A NEW INITIATIVE

CALLED UNITE INITIATIVE.

THIS INITIATIVE AIMS TO

ESTABLISH AN EQUITABLE CULTURE

WITH BIOMEDICAL RESEARCH

ENTERPRISE, REDUCE BARRIERS TO

RACIAL INEQUITIES AND ENHANCE

BIOMEDICAL RESEARCH EQUITY.

I ENCOURAGE YOU TO GO TO OUR

WEBSITE TO LEARN MORE ABOUT THE

UNITE INITIATIVE.

IT'S A MAJOR FOCUS BY THE

NATIONAL INSTITUTES OF HEALTH TO

ADDRESS ISSUES OF STRUCTURAL

RACISM IN BIOMEDICAL RESEARCH.

WHAT I WANT TO DO WITH MY SHORT

TIME TODAY IS TALK ABOUT THREE

CONCEPTS, DIVERSITY IN RESEARCH,

DIVERSITY IN BIOMEDICAL

WORKFORCE, HEALTH EQUITY.

AND THINK ABOUT THESE CONCEPTS,

RELATED TO RARE DISEASES.

WHEN WE THINK ABOUT DIVERSITY

AND THE MEANING OF DIVERSITY WE

ALL THINK ABOUT THOSE THINGS WE

CAN SEE.

TRAITS THAT IDENTIFY AN

INDIVIDUAL THAT PERCEIVE

DIFFERENCE.

WE OFTEN THINK ABOUT ETHNICITY,

RACE, NATIONALITY, GENDER,

DISABILITY, SOCIOECONOMIC

STATUS.

BUT THAT'S REALLY ONLY THE TIP

OF THE ICEBERG.

WHEN WE THINK ABOUT DIVERSITY,

IT'S MANY MORE THINGS THAN

ISSUES OF RACE AND ETHNICITY.

IT'S THINKING STYLES, LANGUAGE,

PERSPECTIVE.

RELIGION, EXPERIENCE,

NATIONALITY, GEOGRAPHY.

WE NEED TO THINK ABOUT DIVERSITY

IN A VERY DIVERSE WAY WHEN WE

THINK ABOUT RARE DISEASES.

BUT WE MUST FOCUS IN ON

DIVERSITY IN RESEARCH.

AT THE NATIONAL HUMAN GENOME

RESEARCH INSTITUTE WHERE I AM AN

INVESTIGATOR AND DEPUTY

DIRECTOR, ONE OF THE MAJOR

ISSUES THAT WE'RE FOCUSED IS HOW

CAN WE INCREASE THE DIVERSITY OF

ANCESTRAL POPULATIONS IN GENETIC

STUDIES BECAUSE THIS IS

IMPORTANT FOR BOTH RARE DISEASES

AS WELL AS MORE COMMON DISEASES.

BECAUSE UNDERSTANDING GENETIC

VARIATION IS IMPORTANT TO

IDENTIFY NEW TREATMENTS AND

IMPROVE HEALTH OF ALL

INDIVIDUALS.

WE ALSO NEED TO THINK ABOUT THE

ISSUE OF DIVERSITY WITH REGARDS

TO RESEARCH AND THINKING ABOUT

THE WORKFORCE.

WHO IS IN THE WORKFORCE?

THIS SLIDE I SHARE WITH YOU HERE

IS A SLIDE THAT REALLY SHOWS THE

PIPELINE OF BIOMEDICAL

RESEARCHERS, AND YOU SEE HERE

THAT 2000, 2008, ONLY 7% OF

BIOMEDICAL RESEARCHERS RECEIVING

PhDs WERE FROM

UNDERREPRESENTED MINORITY

BACKGROUNDS.

NOW IT'S ABOUT 18% IN STEMM

PhD fields.

OUR TRAINING PROGRAMS HAVE GONE

FROM 10% IN 2012 TO 22%

UNDERREPRESENTED POPULATIONS IN

2020.

SO WE'RE MAKING A DIFFERENCE,

BUT WE HAVE A LONG WAY TO GO.

SO WHEN WE THINK ABOUT EQUITY,

AND WE THINK ABOUT EQUITY IN

HEALTH CARE, THIS CARTOON FROM

THE ROBERT WOOD JOHNSON

FOUNDATION I THINK DOES A NICE

JOB OF TALKING ABOUT AND

THINKING ABOUT THE EQUALITY

VERSUS EQUITY.

YOU SEE THE INDIVIDUALS ON THE

BIKES WITH EQUITY ARE DIFFERENT

BIKES, DIFFERENT ACCESS, SO WE

NEED TO THINK ABOUT THIS FROM

THE PERSPECTIVE WHAT DOES AN

INDIVIDUAL PATIENT NEED TO MAKE

SURE WE HAVE EQUITY VERSUS

THINKING ABOUT QUALITY TO

PROVIDE EVERYONE THE SAME THING.

OUR PANELISTS TODAY ARE GOING TO

EXPLORE SOME OF THESE ISSUES

WITH REGARDS TO EQUALITY AND

EQUITY WITH REGARDS TO RARE

DISEASES.

I WOULD ARGUE THIS.

DIVERSITY OF RESEARCH

PARTICIPANTS AND DIVERSITY OF

RESEARCH IN CLINICAL WORKFORCE

FOSTER HEALTH EQUITY.

AS WE THINK ABOUT WHERE WE GO

FROM HERE WITH REGARDS TO THE

FIELD OF RARE DISEASES, TO

ENHANCE EQUITY, WE MUST HAVE

MORE DIVERSE RESEARCH

PARTICIPANTS IN VARIOUS STUDIES

AND MUST HAVE A DIVERSE

WORKFORCE.

WITH THAT I'M JUST PLEASED TO

INTRODUCE OUR PANELISTS FOR

TODAY'S SESSION AND I WOULD LIKE

TO INTRODUCE ALL OF THEM AT ONE

TIME, YOU'LL HAVE AN OPPORTUNITY

TO HEAR FROM EACH.

XAN NOWAKOWSKI, FLORIDA STATE

UNIVERSITY COLLEGE OF MEDICINE.

MICHELE TAKEMOTO IS GENETIC

COUNSELOR, HAWAII DEPARTMENT OF

HEALTH GENETICS PROGRAM AND

PROJECT SPECIALIST FOR WESTERN

STATES REGIONAL GENETICS NETWORK

WHICH YOU'LL LEARN ABOUT FROM

MICHELE.

AISHA LANGFORD, DIVISION OF

COMPARATIVE EFFECTIVENESS AND

DECISION SCIENCE, DEPARTMENT OF

POPULATION HEALTH, NEW YORK

UNIVERSITY.

AND NICOLE KRESSIN, CO-CHAIR OF

DIVERSITY COMMITTEE, RDCRN.

AND TRACY KING, CO-CHAIR OF THE

COMMITTEE ON RARE DISEASE

CLINICAL RESEARCH, MEDICAL

OFFICER AND INTELLECTUAL

DEVELOPMENT DISABILITIES BRANCH

AT EUNICE KENNEDY SHRIVER

NATIONAL INSTITUTE OF CHILD

HEALTH AND HUMAN DEVELOPMENT.

WITH THAT WE LOOK FORWARD TO THE

PANEL AND THEN A CONVERSATION A

THE DISCUSSIONS. -- AFTER THE

DISCUSSIONS.

>> I'M DR. NOWAKOWSKI, 38 YEARS

OLD LIVING WITH CYSTIC FIBROSIS,

A RARE DISEASE THAT MAKES THE

MUCOUS STICKY, CAUSING DAMAGE TO

A WHOLE VARIETY OF ORGANS.

I'M ALSO A SCIENTIST, CLINICAL

EDUCATOR, AND A COMMUNITY

ADVOCATE FOR PEOPLE WITH CF AND

OTHER RARE DISEASES.

SO I'M AT THE INTERSECTION AS I

AM IN MANY AREAS OF MY LIFE OF

DIFFERENT WAYS IN WHICH SCIENCE,

CARE, AND COMMUNITY INTERACT.

THAT'S THE BEGINNING OF HOW

INTERSECTIONS WORK IN MY LIFE.

MY MESSAGE TO ALL OF YOU TODAY

WAS WHAT I'M GOING TO SHARE AND

LEADING INTO OUR NEXT SPEAKERS,

DIVERSITY IS ESSENTIAL.

IT'S ALSO THE BEGINNING.

DIVERSITY IS WHERE WE START.

AND SPECIFICALLY, DIVERSITY IS

WHERE WE START TO LEARN THE

SKILLS THAT WE PRACTICE TO DO

BETTER FOR ONE ANOTHER.

SO I WILL REPEAT AGAIN MY LAST

NAME IS PRONOUNED LIKE A SUPER

NOVA COUGHING AND SKIING.

MY FATHER'S FAMILY IS POLISH.

IT TAKES A BIT TO GET UP TO

SPEED ON THE PRONUNCIATION.

THAT'S OKAY.

IT'S PRACTICE THAT MAKES

PERFECT.

PRACTICE, INTENTIONAL PRACTICE

THAT ENABLES US TO PRACTICE

JUSTICE IN SCIENCE.

WE STARTED PLANNING FOR THIS

SESSION SPECIFICALLY AROUND THE

IDEA OF INCLUSION AND

AFFIRMATION IN CLINICAL TRIALS.

I ACTUALLY JUST GAVE A TALK FOR

NATIONAL JEWISH HEALTH A COUPLE

WEEKS AGO FOCUSING SPECIFICALLY

ON BARRIERS TO CLINICAL TRIAL

PARTICIPATION FOR PEOPLE WITH

CYSTIC FIBROSIS PART OF THE

QUEER, TRANS, AND OTHER INTERSEX

COMMUNITIES.

I'LL TALK ABOUT MY BACKGROUNDS

AS RELATED TO THOSE ASPECTS OF

LIVED EXPERIENCE AND OTHER

THINGS THAT MAKE ME A LITTLE BIT

UNIQUE AS A PERSON LIVING WITH

CF AND THAT GIVE ME UNIQUE

THINGS TO SHARE IN THE EDUCATION

AND UNIQUE THINGS TO ASK ABOUT

IN RESEARCH THAT I DO.

I AM OPENEDLY AND PROUD

BISEXUAL, AGENDER, IN THE QUEER

AND TRANS COMMUNITY, ENDOSEX.

I'M VERY PROUD TO HAVE HIRED OUR

FIRST OPENLY INTERSEX STAFF

MEMBER AT FSU COLLEGE OF

MEDICINE, IF THAT'S A NEW TERM

THAT MEANS WHEN YOUR SEX

ASSIGNMENT AT BIRTH DOESN'T

MATCH YOUR TRUE SEX.

PEOPLE WHO ARE INTERSEX MAY HAVE

MIXED SEX CHARACTERISTICS ON

ANATOMY, GENETICS, HORMONES, A

VARIETY OF OTHER FEATURES.

OF COURSE, NO TWO INTERSEX

PEOPLE ARE ALIKE.

SO THAT DIVERSITY ANGLE REALLY

COMES INTO PLAY BECAUSE WHEN WE

INCLUDE PEOPLE OF DIVERSE LIVED

EXPERIENCES WITH A PARTICULAR

SOCIAL LOCATION, HEALTH STATE,

OR ANYTHING ELSE, WE START TO

LEARN NUANCE.

WE START TO SEE THE SHADES OF

ALL THE DIFFERENT WAYS THAT WHAT

WOULD BE CALLED A MONOLITHTIC

IDENTITY OR MASTER STATUS CAN

REALLY PRECISELY SHAPE OUR

UNIQUE EXPERIENCE OF SOMETHING

IN OUR HEALTH CARE OR RESEARCH

PARTICIPATION.

SO I ALWAYS LIKE TO SAY IF YOU

MET ONE PERSON WITH CF, YOU MET

ONE OF US.

EACH OF US HAVE DIFFERENT

CHARACTERISTICS THAT MAKE US

UNIQUE AS PATIENTS, WHETHER

SEX/GENDER AND SEXUALITY,

SPECIFIC GENETICS, I'M A BIT OF

A UNICORN IN THAT CATEGORY

BECAUSE AS FAR AS WE KNOW I'M

THE ONLY ONE IN THE UNITED

STATES WITH MY SPECIFIC

GENOTYPE.

IF YOU KNOW ABOUT CF GENETICS,

THE NOT UNUSUAL.

I'LL DESCRIBE MYSELF.

I'M A VERY THIN QUITE LIGHT

SKINNED RACIALLY WHITE PERSON

WITH LONG -- DARK STRAWBERRY

BLONDE CURLY HAIR, DARK GREEN

EYES, BLACK EYE LINER, MISSING

ONE OF MY TWO FRONT TEETH, I'M

MISSING PRETTY MUCH ALL MY TEETH

BUT I DON'T HAVE A PROSTHETIC IN

THE FRONT LEFT POSITION RIGHT

NOW.

I HAVE TWO RINGS IN MY RIGHT

NOSTRIL.

WEARING A BLACK BLAZER WITH

THEY, THEM PRONOUN PIN, BLACK

SHEATH DRESS, LARGE PROMINENT

CHEEK BONES.

YOU NOTICE I SAID I'M RACIALLY

WHITE.

I HAVE MULTI-RACIAL LINEAGE IT'S

HALF AND HALF INDIGENOUS

AMERICAN, EUROPEAN AMERICA.

THE SPERM DONOR WAS MULTI-ETHNIC

NATCHEZ CREEK, EGYPTIAN,

SICILIAN HERITAGE, SOME AFRICAN

AMERICAN DESCENDANT OF SLAVE

ANCESTORS, MY MOTHER'S FAMILY

WHO I'M RELATED TO BOTH SOCIALLY

AND BY BLOOD ARE GERMANY AND

DANISH ON HER MOTHER'S SIDE, AND

TUSCARORA AND SCOTT, AND MY

FATHER'S FAMILY, WEST SLAVIC,

100% ETHNIC CATHOLIC POLISH.

I'M MULTI-ETHNIC WITH RARE

GENETIC MUTATIONS, NOT ELIGIBLE

FOR NEXT GEN DRUGS, PROTEIN

MODULATORS THAT ARE SUPPOSED TO

HELP 90% OF THE FULL CF

COMMUNITY.

WELL, THERE IS NO MODULATOR FOR

ME.

THERE ARE OTHER THINGS COMING

INTO THE PIPELINE FOR ME.

FOR MY PEER WHO IS ARE IN WHAT

WE CALL THE 10% COMMUNITY, I'M

NEURODIVERGENT, SURVIVOR OF

INTIMATE PARTNER VIOLENCE,

SEXUAL ABUSE.

SO I HAVE A VARIETY OF FEATURES

THAT MAKE ME A LITTLE BIT

UNIQUE, THAT ALLOW ME TO

IDENTIFY PARTICULAR BARRIERS TO

INCLUSION AFFIRMATION AND

JUSTICE FOR PEOPLE WITH C F AND

PEOPLE WITH RARE DISEASES IN

GENERAL WHO ARE PARTICIPATING IN

RESEARCH, SO MY TAKEAWAY FOR ALL

OF YOU BEFORE WE GO TO OUR NEXT

SPEAKER IS THAT IF YOU WANT TO

GET A GOOD UNDERSTANDING OF HOW

TO MAKE RESEARCH ACCESSIBLE AND

REWARDING, FOR PEOPLE WITH RARE

DISEASES, THE DIVERSITY ANGLE

THAT DR. BONHAM SPOTLIGHTED IS

IMPORTANT BUT THAT'S WHERE YOU

START.

YOU MUST NOT ONLY BRING US TO

THE TABLE BUT ENGAGE US ROBUSTLY

AT EVERY STAGE, IN THE PLANNING,

IMPLEMENTATION, AND ANALYSIS OF

RESEARCH AND YOU MUST ENGAGE A

DIVERSE GROUP OF US ROBUSTLY

BECAUSE IF YOU HAVE MET ONE OF

US, YOU HAVE MET ONE OF US.

>> I'M MICHELE TAKEMOTO, MY

PRONOUNS ARE SHE, HER.

GENETIC COUNSELOR WITH THE

HAWAII DEPARTMENT OF HEALTH.

A LITTLE BACKGROUND ABOUT THE

PROGRAMS THAT I WORK FOR, LAYERS

OF PROGRAMS, I'M A GENETIC

COUNSELOR WITH THE HAWAII

DEPARTMENT OF HEALTH, AND THE

HAWAII DEPARTMENT OF HEALTH

GENETICS PROGRAM SERVES AS THE

LEAD ORGANIZATION FOR THE

WESTERN STATES REGIONAL GENETICS

NETWORK.

THERE ARE SEVEN NETWORKS ACROSS

THE COUNTRY, AND WE'RE LOCATED

OVER HERE ON THE WEST COAST.

AND EACH REGIONAL GENETICS

NETWORKS IS TASKED WITH

INCREASING ACCESS TO GENETIC

SERVICES TO UNDERSERVED

POPULATIONS.

ONE OF OUR PROJECTS AS THE

WESTERN STATES REGIONAL GENETICS

NETWORK IS MINORITY GENETIC

PROFESSIONALS NETWORK, LOTS OF

NETWORKS.

THE GENETIC COUNSELING

PROFESSION HAS BEEN AROUND 50

YEARS, 90% WHITE AND FEMALE, FOR

MOST OF THAT TIME.

SO THE LACK OF DIVERSITY

PRESENTS A BARRIER TO SERVICES

FOR MINORATIZED COMMUNITIES,

AFFECTS QUALITY AT THE LEVEL OF

CULTURAL COMPETENCE, HUMILITY,

CAN BE PROBLEMATIC WITHIN THE

FIELD.

ANOTHER ASPECT OF OUR WORK WITH

WESTERN STATES REGION THAT MAY

BE OF INTEREST TO OUR AUDIENCE,

WE WORK WITH FAMILY ADVOCACY

ORGANIZATIONS.

THERE'S SPECIFIC CATEGORIES,

PARENT TRAINING AND INFORMATION

CENTERS, FAMILY 2 FAMILY HEALTH

INFORMATION CENTERS, FAMILY

VOICES, AND ALL OF THESE

ORGANIZATIONS, THEY ARE NOT LIKE

THE RARE DISEASE COMMUNITY WHERE

THEY FOCUS ON SPECIFIC DISEASES,

SPECIFIC CONDITIONS.

THEY ARE AVAILABLE TO ALL

FAMILIES WITH CHILDREN WITH

SPECIAL HEALTH NEEDS, SPECIAL --

A LOT OF THOSE ARE GENETIC

CONDITIONS, BUT SOME ARE NOT.

AND THESE ORGANIZATIONS ARE MADE

UP OF PARENTS OF CHILDREN WITH

SPECIAL HEALTH NEEDS, AND SO

THEY ARE THE PEOPLE ACTUALLY

RUNNING THESE ORGANIZATIONS.

AND THEY HELP TO TRAIN OTHER

PARENTS IN BEING ADVOCATES

THEMSELVES, IF THEY ARE

INTERESTED IN GOING DOWN THAT

PATH.

AND THEY HELP PARENTS AND

FAMILIES NAVIGATE LEGAL SYSTEMS,

EDUCATIONAL SYSTEMS, HEALTH CARE

SYSTEMS, TO MAKE SURE THAT THEIR

CHILDREN AND THEIR FAMILIES AS A

WHOLE ARE GETTING THE SERVICES

THAT THEY NEED, THE SERVICES

THAT THEY ARE LEGALLY ENTITLED

TO, AND MAKING SURE THAT THEIR

CHILDREN ARE GETTING OPTIMAL

HEALTH CARE, WHICH CAN INVOLVE

INTERACTING WITH GENETIC

SERVICES.

SO, THERE ARE MULTIPLE LAYERS OF

CHALLENGES TO ACCESSING GENETIC

SERVICES, ESPECIALLY FOR

FAMILIES WHO COME FROM RACIAL

AND ETHNIC MINORITY BACKGROUNDS.

SOME OF THIS CAN HAVE TO DO WITH

GENERATIONS OF IMMIGRATION,

LANGUAGE CHALLENGES, AND A

GENERAL LACK OF FAMILIARITY WITH

GENETIC SERVICES.

THE LACK OF FAMILIARITY WITH

GENETIC SERVICES IS ACTUALLY

SOMETHING THAT IS -- THAT CUTS

ACROSS ALSO ECONOMIC

BACKGROUNDS, RACIAL AND ETHNIC

BACKGROUNDS.

MOST PEOPLE DON'T KNOW WHAT A

GENETIC COUNSELOR IS.

AND THE MENTION OF GENETIC

TESTING CAN BE ANXIETY

PROVOKING.

FOR SOME FAMILIES THERE CAN BE

CONCERNS ABOUT FEELINGS OF GUILT

IF THEY KNOW THAT A CONDITION IS

RUNNING IN THE FAMILY AND THEY

ARE CONCERNED THAT THEY HAVE

HARMED THEIR CHILD WITH THEIR

GENETICS.

WE TRY TO EMPHASIZE WE DON'T

CONTROL WHAT WE INHERIT OR WHAT

WE PASS ON.

THERE CAN ALSO BE CONCERNS ABOUT

THE COST OF GENETIC TESTING.

MOST PEOPLE HAVE THE IMPRESSION

THAT IT COSTS THOUSANDS AND

THOUSANDS OF DOLLARS AND THAT

INSURANCE DOESN'T COVER IT.

WHEREAS IN MANY CASES NOW

INSURANCE DOES COVER IT.

AND THE OUT-OF-POCKET COSTS CAN

BE VERY LOW.

AND THERE ARE PROGRAMS THAT

ACTUALLY HELP PAY FOR GENETIC

TESTING SO COST CAN BE ZERO.

THERE CAN BE ISSUES WITH

TRANSPORTATION, WHICH IS

SOMETHING THAT TO SOME DEGREE

THE PANDEMIC HAS SOLVE AS

TELEHEALTH HAS BECOME MORE

PREVALENT BUT THERE CAN BE A

LACK OF INTERNET ACCESS OR A

LACK OF DEVICES, PERIOD, FOR

SOMEBODY WITH A FLIP PHONE, THEY

CAN'T ACCESS TELEHEALTH AT ALL.

HERE IN HAWAII WE HAVE A LOT OF

TELEHEALTH INTERACTIONS WITH

FAMILIES ON THE NEIGHBOR ISLANDS

ON THE SIDE OF A ROAD IN A

MINIVAN TRYING TO GET WI-FI OFF

A NEARBY BUSINESS.

SO, THERE ARE ALL SORTS OF

LOGISTICAL BARRIERS AND

EMOTIONAL BARRIERS, LANGUAGE

BARRIERS.

I DIDN'T MENTION LANGUAGE THERE.

HOWEVER, IT'S ALSO IMPORTANT NOT

TO PIGEONHOLE AND STEREOTYPE

FAMILIES WITH LACK OF

UNDERSTANDING ABOUT GENETIC

TESTING AND GENETIC SERVICES.

SO, SWITCHING OVER TO THE

CHALLENGES ON THE PROVIDER SIDE,

THERE ARE VERY OFTEN ASSUMPTIONS

THAT CERTAIN COMMUNITIES THAT

PEOPLE FROM CERTAIN COMMUNITIES

JUST ARE NOT INTERESTED IN

GENETIC TESTING.

AND SO THERE'S ALMOST NO POINT

IN THEIR COMING TO THE

APPOINTMENT BECAUSE THEY ARE NOT

GOING TO -- THERE'S NO UPTAKE OF

GENETIC SERVICES ANYWAY.

AND AGAIN WITH DIFFERENT

GENERATIONS OF IMMIGRATION,

THOSE ASSUMPTIONS BECOME LESS

AND LESS TRUE, AS PEOPLE FROM

DIFFERENT IMMIGRANT COMMUNITIES

ARE HERE IN THE U.S. OVER MORE

GENERATIONS.

AND THERE CAN ALSO BE

ASSUMPTIONS THAT PEOPLE WITH

LACK OF EDUCATION AND LACK OF

WESTERN EDUCATION WON'T

UNDERSTAND THE EXPLANATIONS

ABOUT GENETIC TESTING, WHEN IT'S

REALLY ON THE PROVIDERS TO MAKE

SURE THAT THEY EXPLAIN THINGS IN

AN APPROPRIATE MANNER SO THE

PATIENTS CAN UNDERSTAND, AND

LACK OF EDUCATION IS NOT

EQUIVALENT TO LACK OF

INTELLIGENCE.

THERE CAN ALSO BE ASSUMPTIONS

THAT ON THE PROVIDER'S SIDE THAT

INSURANCE WON'T COVER TESTING.

AND THAT IS NOT ALWAYS THE CASE.

AND PEOPLE HAVE DIFFERENT

INSURANCE PLANS.

AND SO IF IT'S A PLAN THAT A

PROVIDER'S NOT FAMILIAR WITH,

(INDISCERNIBLE) AND ALSO WITH

INSURANCE THERE CAN BE ISSUES

WITH IMPLICIT BIAS, WHERE A

PROVIDER MAY NOT GO TO BAT WITH

AN INSURANCE COMPANY, AS MUCH

FOR SOMEBODY FROM ONE COMMUNITY

VERSUS OVER ANOTHER.

OR EXPLORING WITH THE GENETIC

TESTING LABS VERY OFTEN THERE

CAN BE PROGRAMS TO DISCOUNT OR

COVER THE COST OF TESTING

ENTIRELY.

AND PROVIDERS MAY HAVE A

PREFERENCE FOR PATIENTS FROM

DIFFERENT COMMUNITIES AND MAY

PUSH HARDER FOR PATIENTS FROM

DIFFERENT COMMUNITIES OR NOT

PUSH AS HARD.

AND SO THOSE SORTS OF ISSUES

WHICH CAN BE SUBTLE OR OBVIOUS

CAN BE ISSUES ON THE PROVIDER,

CLINICIAN SIDE OF THINGS, AND

THAT'S ONE OF THE REASONS WHY

MGPN IS WORKING VERY HARD TO

HELP INCREASE THE DIVERSITY IN

THE PROFESSION.

SO AS WE AS PROVIDERS LEARN FROM

EACH OTHER, THROUGH TRAINING AND

THROUGH WORKING TOGETHER IN

CLINIC, SOME OF THESE

ASSUMPTIONS AND BIASES HOPEFULLY

CAN BE REDUCED.

ON THE MEDICAL SCIENTIFIC SIDE

OF THINGS, THERE IS THE ISSUE OF

VARIANTS OF UNKNOWN SIGNIFICANCE

OR UNCERTAIN SIGNIFICANCE, WHERE

THERE ARE NOT AS MANY RESEARCH

SUBJECTS IN GENETIC RESEARCH,

WHO ARE NOT OF EUROPEAN

BACKGROUND OF THE MOST RESEARCH

SUBJECTS ARE OF EUROPEAN

BACKGROUND, AND SO GENETIC

VARIANTS THAT ARE NOT FOUND IN

EUROPEAN POPULATIONS, LESS IS

KNOWN.

SO THE RESULTS ON GENETIC

TESTING DOWNSTREAM FROM THE

RESEARCH DON'T GIVE AS MUCH

INFORMATION FOR PEOPLE WITH

ANCESTORS FROM OUTSIDE OF

EUROPE.

SO WHEN WE GET A RESULT BACK,

THERE CAN BE A POSITIVE RESULT

WHICH MEANS A GENETIC CONDITION

WAS FOUND, A NEGATIVE RESULT

WHICH MEANS THAT NO GENETIC

CONDITION WAS FOUND.

THAT DOESN'T NECESSARILY MEAN

THAT THERE ISN'T ONE.

THE VARIATION IN GENETIC TESTING

TECHNOLOGY IS VERY WIDE AND SO

IT COULD BE THAT A CONDITION

COULD BE FOUND THROUGH ANOTHER

TEST, OR JUST THAT THE

TECHNOLOGY ISN'T THERE YET, THE

SCIENTIFIC KNOWLEDGE ISN'T THERE

YET.

AND A TEST IN A FEW YEARS MIGHT

FIND AN ANSWER.

VARIANTS OF UNCERTAIN

SIGNIFICANCE ARE ESSENTIALLY A

MAYBE ANSWER.

GENES CAN BE CHANGED IN MANY

DIFFERENT WAYS, AND SO THERE ARE

SOME DIFFERENCES IN GENES WHERE

WE DON'T KNOW IF THAT CAUSES A

HEALTH PROBLEM, OR NOT.

AND THOSE AGAIN ARE

DISPROPORTIONATELY PREVALENT IN

RACIAL AND ETHNIC MINORITY

COMMUNITIES, BECAUSE OF THE LACK

OF PARTICIPATION IN RESEARCH.

AND I KNOW THAT OTHER MEMBERS OF

THE PANEL WILL BE SPEAKING MORE

ABOUT THAT.

AND IT IS IMPORTANT THAT

CLINICIANS EXPLAIN THE

DIFFERENCE BETWEEN POSITIVE,

NEGATIVE, VARIANTS OF UNKNOWN

SIGNIFICANCE, TO THE PATIENTS

AHEAD OF TESTING SO THAT THEY

KNOW THEY AREN'T SO DISAPPOINTED

IF THEY GET A NEGATIVE RESULT OR

IT DOESN'T CAUSE THEM AS MUCH

ANXIETY GETTING A MAYBE ANSWER.

SO, I HOPE THAT THIS HAS BEEN

HELPFUL INFORMATION FOR OUR

AUDIENCE.

IF ANYONE HAS QUESTIONS MY

CONTACT INFORMATION IS HERE AND

ALSO IN THE WHOVA APP.

THANK YOU VERY MUCH.

>> HELLO, I'M AISHA LANGFORD,

EXCITED TO BE SHARING MY

PERSPECTIVES AND RESEARCH ON

WAYS TO ENHANCE DIVERSITY,

EQUITY, INCLUSION, AND

ACCESSIBILITY IN CLINICAL TRIALS

BROADLY, IMPLICATIONS FOR RARE

DISEASES SPECIFICALLY.

AS MANY OF YOU KNOW, CLINICAL

TRIALS ARE QUITE DIVERSE WITH

REGARD TO PHASES OF CLINICAL

TRIALS, THE TIMES OF MODALITIES,

SO WHETHER WE'RE TALKING ABOUT

DRUGS, SURGERY, GENETICS,

THERE'S DIFFERENT WAYS YOU CAN

ADMINISTER CLINICAL TRIALS AND

THERE ARE DIFFERENT TARGET

POPULATIONS.

SO KEEP THAT IN THE BACK OF OUR

MIND.

THIS SLIDE HERE IS A BROAD

GENERAL CONCEPTUAL MODEL THAT I

HAD PUBLISHED IN THE JOURNAL OF

HEALTH COMMUNICATION LAST YEAR.

AND AS YOU CAN SEE THERE ARE A

LOT OF BULLETS, I'M NOT GOING TO

GO OVER EVERY SINGLE BULLET IN

THIS MODEL BUT CLINICAL TRIALS

FROM THE VERY BEGINNING OF

SOMEONE ACTUALLY KNOWING THAT A

CLINICAL TRIAL IS AVAILABLE TO

ACTUALLY ENROLLING AND STAYING

IN THE CLINICAL TRIAL TO THE END

IS IT CAN BE A LONG PROCESS,

WITH A LOT OF THINGS IN BETWEEN.

I ALWAYS LIKE TO REMIND

RESEARCHERS AND HEALTH CARE

PROVIDERS TO BE MINDFUL OF THE

CLINICAL TRIAL CHARACTERISTICS

AND PROTOCOL BURDEN, POTENTIAL

BUSHED ON PATIENTS.

ALSO TO REALLY UNDERSTAND YOUR

PATIENT'S CHARACTERISTICS OR

TARGET AUDIENCE SO THAT WE'RE

DESIGNING TRIALS PEOPLE CAN

ACTUALLY DO.

AND THAT PATIENT PERSPECTIVES

AND FAMILY PERSPECTIVES ARE

INTEGRATED IN SOME OF THE

ENDPOINTS AND FOCUS MEASURES

THAT WE'RE EXPLORING.

IN THE SAME PAPER PUBLISHED IN

THE JOURNAL OF HEALTH

COMMUNICATION, I PUT FORTH THE

ASK APPROACH TO ENHANCING

CLINICAL TRIAL PARTICIPATION.

THAT'S REALLY A HUERISTIC AND

REMINDER THAT IT IS VERY

IMPORTANT TO MAKE SURE PATIENTS

ARE PROPERLY SCREENED FOR

ELIGIBILITY AND ACTUALLY ASKED.

THERE'S A GOOD BODY OF RESEARCH

THAT SHOW ONE OF THE BIGGEST

REASONS THAT PATIENTS DO NOT

PARTICIPATE IN CLINICAL TRIALS

IS BECAUSE THEY ARE NEVER AWARE

A CLINICAL TRIAL IS AVAILABLE.

AND THEY ARE NEVER EXPLICITLY

ASKED TO PARTICIPATE.

SO, THE "A" IN ASK STARTS WITH

ASSUME.

INSTEAD OF ASSUMING THAT

PATIENTS ARE GOING TO

AUTOMATICALLY BE FEARFUL, OR

MISTRUSTFUL, OR NOT WILLING TO

DO A TRIAL, ASSUME YOUR PATIENTS

WANT TO KNOW OPTIONS AND

CLINICAL TRIALS FOR MANY ARE AN

OPTION, LET'S ASSUME THEY WANT

TO KNOW ALL THEIR OPTIONS.

WE WANT TO MAKE SURE WE'RE

SEEKING COUNSEL OF STAKEHOLDERS.

STAKEHOLDERS ARE OFTEN THOUGHT

OF AS PATIENTS IN FAMILIES, IN

CLINICIANS, THOSE ARE ALL VERY

IMPORTANT.

DEPENDING ON WHO YOU ARE TRYING

TO REACH, AND WHERE YOU ARE

TRYING TO REACH THEM, YOU MAY

WANT TO CONSIDER PARTNERING WITH

YOUR MARKETING AND COMMUNICATION

PROFESSIONALS, DEPENDING ON HOW

YOU'RE GOING TO INVITE PATIENTS,

IF YOU'RE GOING TO INVITE THEM

THROUGH THE PATIENT PORTAL, YOU

MAY NEED TO PARTNER WITH YOUR

HEALTH INFORMATICS TEAM SO

REALLY BE BROAD AND INCLUSIVE,

OF WHO YOU CONSIDER A

STAKEHOLDERS.

LASTLY, IT'S REALLY IMPORTANT TO

KNOW YOUR NUMBERS.

AND KNOW YOUR NUMBERS HAS TO DO

WITH YOU HAVE TO KNOW WHAT THE

THEORETICAL SPEAR OF PEOPLE WHO

CAN POTENTIALLY BE ELIGIBLE ARE.

YOU NEED TO KNOW HOW MANY PEOPLE

HAVE ACTUALLY BEEN APPROACHED

AND INVITED.

YOU SHOULD BE HOPEFULLY KEEPING

TRACK OF WHO IS ACCEPTING OR

DECLINING, AND WHO IS INTERESTED

BUT NOT ELIGIBLE OR MAYBE WHO IS

INTERESTED BUT CAN'T DO IT

BECAUSE THE CLINICAL HOURS ARE

CONFINED TO MONDAY THROUGH

FRIDAY FROM 9 A.M. TO 4 P.M. AND

THEY WOULD DO IT OTHERWISE IF

THAT THERE WERE FLEXIBLE

APPOINTMENTS, FOR EXAMPLE IN THE

EVENING OR WEEKENDS.

THOSE ARE THE TYPE OF NUMBERS

THAT WE TRY TO CAPTURE AT MY

INSTITUTION IN OUR CLINICAL

ANSWER TRANSLATIONAL INSTITUTE

AND RECRUITMENT AND RETENTION

CORE I CO-LEAD.

SICKLE CELL THERAPY AS AN

EXAMPLE OF A CLINICAL TRIAL, YOU

MAY BE FAMILIAR WITH THIS

CLINICAL TRIAL THAT WAS STARTED

RECRUITING I BELIEVE IN 2014.

AND IN FEBRUARY OF 2021 THERE

WAS A STORY ABOUT THIS GENE

THERAPY TRIAL FOR SICKLE CELL

WAS HALTED BECAUSE TWO PATIENTS

DEVELOPED CANCER.

JUST THINK IF YOU'RE A PARENT, A

PERSON IN THE WORLD WITH SICKLE

CELL DISEASE, SEEING THIS

ARTICLE IN THE NEWSPAPER OR

ARTICLE ON THE INTERNET, HOW YOU

WOULD FEEL AND WHAT YOU WOULD DO

AND WHAT THOSE IMPLICATIONS MAY

MEAN FOR THE TEAM RUNNING THIS

TRIAL.

THIS IS FEBRUARY 2021.

IN MARCH OF 2021 THERE WAS

ANOTHER ARTICLE THAT CAME OUT IN

THE "NEW YORK TIMES" THAT

ACTUALLY SHOWED THAT THE SICKLE

CELL TREATMENT WAS NOT LINKED TO

CANCER, RESEARCHERS SAY.

AGAIN, THINKING ABOUT YOURSELF,

IF YOU WERE A PATIENT OR FAMILY

MEMBER, EVEN A CLINICIAN

FOLLOWING THIS GENE THERAPY

TRIAL, WHAT YOU WOULD BE

THINKING AND HOW WOULD YOU BE

EXPLAINING THIS TO PATIENTS IF

AT ALL.

AND THEN FINALLY THERE'S

SOMEWHAT HAPPY ENDING TO THIS

STORY, SO IN DECEMBER OF 2021 AS

YOU CAN SEE ON NIH, NATIONAL

HEART, LUNG AND BLOOD INSTITUTE

HAD THIS WONDERFUL PRESS RELEASE

THAT THIS EXPERIMENTAL GENE

THERAPY APPROACH SHOWS PROMISE

FOR ELIMINATING PAIN AND I THINK

FOR PATIENTS AND FAMILIES THAT

ARE SUFFERING FROM SICKLE CELL

THIS PROVIDED A LOT OF HOPE FOR

THEM.

AND THE PAPER WAS ACTUALLY

PUBLISHED, IN THE NEW ENGLAND

JOURNAL OF MEDICINE, AND, AGAIN,

I WON'T GO OVER THIS WHOLE

ARTICLE WITH YOU BUT AS A NERDY

RESEARCHER I LIKE TO LOOK AT THE

TABLE 1, DEMOGRAPHICS OF WHO

MADE IT INTO THE TRIALS OR THIS

PARTICULAR TRIAL.

AND THERE WERE 35 PARTICIPANTS,

AND APPROXIMATELY 34

SELF-IDENTIFIED AS BLACK, AND

MEDIAN AGE WAS 24, THINKING

ABOUT DIVERSITY, INCLUSION, AND

EQUITY, THIS IS PROMISING TO ME

BECAUSE I DO KNOW THAT ALTHOUGH

SICKLE CELL DISEASE CAN AFFECT

SEVERAL RACIAL AND ETHNIC

GROUPS, BLACK ADULTS AND BLACK

AMERICANS ARE AT GREATER RISK OF

SUFFERING FROM SICKLE CELL FOR A

VARIETY OF REASONS.

SO, AGAIN, THINKING ABOUT ALL OF

THESE NEWS ARTICLES AND PRESS

RELEASES THAT I SHOWED YOU,

THINK ABOUT IF YOU WERE A

CLINICIAN AND YOU HAD A PATIENT

THAT WALKED IN AND SAID, HEY,

DR. BOB, I READ IN THE NEWS THEY

FOUND A CURE FOR SICKLE CELL

DISEASE, HELP ME GET IT, I CAN'T

TAKE THIS PAIN ANY LONGER.

IT WORKS, RIGHT?

HOW DO I GET IT?

THESE ARE THE QUESTIONS MY

COLLEAGUES GET DEALING WITH

PATIENTS FOLLOWING RESEARCH AND

HAVE RARE CONDITIONS.

IF YOU ARE INTERESTED IN

LEARNING A LITTLE BIT MORE ABOUT

ISSUES IN PEDIATRIC GENE THERAPY

RESEARCH, IN PARTICULAR EQUITY,

YOU MAY WANT TO WATCH THIS

YouTube VIDEO.

I'M PART OF THE PEDIATRIC GENE

THERAPY WORKING GROUP AT NYU AND

WE EXPLICITLY TALKED ABOUT THIS

LAST YEAR.

ACTUALLY IN 2020 AS PART OF OUR

LUNCH TIME SERIES.

IMAGINE YOU HAVE A CHILD WITH

SICKLE CELL DISEASE, AND YOU

WANT TO LEARN ABOUT YOUR

CLINICAL TRIAL OPTIONS.

WHERE WOULD YOU GO?

WHO WOULD YOU ASK?

WHO WOULD YOU HAVE HELP YOU FIND

OPTIONS?

THIS IS AN OPEN TRIAL THAT IS

RECRUITING THAT I FOUND ON

clinicaltrials.gov.

IT'S TESTING A DRUG VERSUS

PLACEBO IN CHILDREN WHO HAVE

SICKLE CELL DISEASE, CHILDREN

OLDER THAN 2, LESS THAN 15.

AND SO IF A FAMILY WAS MAYBE

BORED ON A WEEKEND, NOT WATCHING

TO WATCH TIKTOK VIDEOS,

EXPLORING clinicaltrials.gov

THEY MAY COME ACROSS THIS TRIAL

AND ASK THE DOCTOR SHOULD I DO

THIS?

THIS IS MY LAST SLIDE BUT SOME

OF THE EMERGING ISSUES AND

CHALLENGES IN CLINICAL TRIALS

BROADLY AND ALSO IN RARE

DISEASES ARE HOW TO EXPLAIN

RANDOMIZATION TO PATIENTS AND

FAMILIES, HOW TO COMMUNICATE

UNCERTAINTY BECAUSE IN MANY

CLINICAL TRIALS ESPECIALLY PHASE

1 AND PHASE 2 AND IN GENE

THERAPY TRIALS WE DON'T ALWAYS

KNOW WHAT IS GOING TO HAPPEN.

IT'S VERY EARLY.

WHAT IF ANY AUDIO/VISUAL

SUPPORTS ARE HELPFUL FOR

IMPROVING INFORMED CONSENT?

AND FINALLY MANAGING

EXPECTATIONS AND I WAS PART OF A

CONFERENCE A COUPLE WEEKS AGO

AND ONE OF THE PATIENT ADVOCATES

WHOSE SON HAS A RARE CONDITION

SAID WE SHOULD STOP SAYING IT'S

FALSE HOPE.

MAYBE WE SHOULD CALL IT

MISGUIDED HOPE AND CLINICIANS AN

HEALTH COMMUNICATORS MAYBE NEED

TO DO A BETTER JOB HELPING TO

MANAGE EXPECTATIONS BUT HOPE

SOMETIMES IS ALL THEY HAVE LEFT.

AND WE SHOULDN'T SAY THAT IT'S A

FALSE HOPE OR BAD THING TO BE A

PARENT OR FAMILY MEMBER.

MAINTAINING HOPE THAT ONE DAY

THERE MAYBE WILL BE A CURE OR

MORE EFFECTIVE TREATMENT.

THANK YOU.

>> I'M NICOLE KRESSIN, CHAIR OF

INC DIVERSITY COMMITTEE, I

CO-CHAIR THE RARE DISEASE

CLINICAL RESEARCH NETWORKS

DIVERSITY COMMITTEE WITH DR.

TRACY KING AND A CONSORTIUM P.I.

AT THE MAYO CLINIC.

I'M GOING TO DISCUSS HOW ONE

GRASS ROOTS D.E.I.A EFFORTS

BLOSSOMED AND HOW WE CONTINUE TO

FOSTER CHANGE IN THE LONG TERM.

THE INC IS A CONSORTIUM WITH 20

RESEARCH SITES IN FOUR

COUNTRIES, MANY TYPES OF

INHERITED NEUROPATHY, THE MOST

COMMON CMT TYPE 1A NO KNOWN

RACIAL OR ETHNICITY

PREDISPOSITION TO HAVING THE

DISEASE.

RESEARCH AND CLINICAL POPULATION

SHOULD REFLECT THE DEMOGRAPHICS

OF THE LOCAL POPULATIONS AT

STUDIES SITES BUT THEY DO NOT.

THE COMMITTEE HAS TEN MEMBERS,

EVERYONE WHO IS PART OF OUR

CONSORTIUM IS ENCOURAGED TO JOIN

IF THEY WISH.

WE REPRESENT SEVERAL ROLES

WITHIN OUR CONSORTIUM AND ARE

LOCATED IN THREE COUNTRIES,

SEVERAL U.S. STATES.

WE HAVE VARIED LEVELS OF

EXPERIENCE AND EDUCATION, NONE

HAD SIGNIFICANT EXPERIENCE WITH

D.E.I.A WORK TRIBE TO JOINING

THE COMMITTEE, BUT WE'RE ALL

DEEPLY PASSIONATE AND ENGAGED IN

THE WORK.

A PILLAR IN SUCCESS HAS BEEN OUR

APPROACH.

OUR MEETINGS ARE PRODUCTIVE BUT

FEEL LIKE A GATHERING OF

FRIENDS.

WE BENEFIT GREATLY FROM THE

REPRESENTATION OF DIFFERENT

ROLES AND GEOGRAPHIC LOCATIONS

MEMBERS PROVIDE AND WE RECOGNIZE

DIVERSITY IS MULTI-FACETED AND

MAY NOT BE VISIBLE TO US AS

RESEARCHERS.

FOR THAT REASON WE FOCUS ON

IMPACT AND ACTIONS THAT WILL

BETTER SUPPORT ALL PATIENTS.

OUR ACTIONS HAVE CENTERED AROUND

REORGANIZING EXISTING RESOURCES.

COMMITTEE DOES NOT HAVE

DEDICATED FUNDING OR PROTECTED

TIME FOR MEMBERS.

WE FOUND, HOWEVER, SOME OF OUR

MOST IMPACTFUL ACTIONS DON'T

REQUIRE MUCH TIME OR MONEY.

MOST OF OUR ACTIONS CENTERED

AROUND COMMUNICATING

DIFFERENTLY, IF YOU LOOK AT THE

BULLET POINTS DESCRIBING SOME

INITIATIVES THEY ALL BOIL DOWN

TO COMMUNICATION.

SO, RAISING AWARENESS THROUGH

COMMUNICATIONS WITH PATIENT

COMMUNITIES, GENERAL

NEUROLOGISTS, PRIMARY CARE

PROVIDERS, INCLUSIVE SOCIAL

MEDIA CAMPAIGNS PROVIDING

INFORMATION TO OUR RESEARCHERS

ABOUT REPRESENTATION AND BIAS

AND PRESENTATIONS, POSTERS,

MANUSCRIPTS, WE CREATED

DIVERSITY, EQUITY, AND INCLUSION

LEADERSHIP INTERNSHIP POSITION

FOR A JUNIOR STUDY STAFF MEMBER,

PLANNING TO ENTER A PROFESSIONAL

PROGRAM SO THEY ARE GETTING THAT

KIND OF LEADERSHIP EXPERIENCE

VERY EARLY ON IN THEIR CAREER

THAT THEY CAN TAKE WITH THEM

THROUGHOUT.

AND THEN DEVELOPING AND

VALIDATING OUR VIRTUAL

ASSESSMENTS INTO ENGLISH,

SPANISH, ITALIAN, SO PATIENTS

CAN ENROLL VIRTUALLY IN OUR

STUDY.

SO HOW CAN YOUR TEAM GET

STARTED?

WELL, THERE ARE MANY COMPLEX

ISSUES.

WE'VE LEARNED SHIFTING OUR

MINDSET IS THE MOST IMPORTANT

FIRST STEP TO BEGIN ADDRESSING

THOSE ISSUES.

DISMANTLING EXISTING SYSTEMS

THAT WORKED FOR SOME BUT NOT ALL

MAY FEEL UNCOMFORTABLE AND WILL

LOOK DIFFERENT, ESPECIALLY SINCE

MANY IN ACADEMIA HAVE BENEFITED

FROM THE BIASES BUILT INTO THE

EXISTING SYSTEMS.

WE MUST LEARN TO SIT WITH

DISCOMFORT AND RECOGNIZE WORKING

THROUGH A D.E.I.A LENS IS PART

OF RESEARCH.

WE ALL HAVE THE TOOLS TO BEGIN

TO CREATE CHANGE, IT TAKES A

TEAM OF TALENTED ENGAGED

VOLUNTEERS WHO CAN REIMAGINE THE

RESOURCES YOU HAVE.

ONE EXAMPLE IS CREATING SOCIAL

ACCOUNTABILITY.

THAT'S FREE AND TAKES LITTLE

TIME.

MAKING A DISCUSSION OF D.E.I.A

EFFORTS IS STANDARD IN MEETINGS,

PUBLICATIONS AND TALKS IS A

GREAT EXAMPLE HOW TO DO THIS.

THE INC COMMITTEE BEGAN TALKING

WITH OTHER GROUPS, I HAVE LOGOS,

ABOUT EFFORTS, IT'S CLEAR SOME

OF THE CHALLENGES ARE UNIVERSAL

ACROSS CONSORTIA AND STUDY SITES

WITHIN THE U.S. AND

INTERNATIONALLY.

AND PEOPLE ACROSS THE NETWORK

WERE INTERESTED IN LEARNING FROM

EACH OTHER'S EFFORTS,

COLLABORATING TO ADDRESS SOME OF

THESE COMMON CHALLENGES.

SOME EXAMPLES INCLUDE THE FACT

THAT MANY RESEARCH STUDY SITES

DON'T HAVE RESOURCES FOR

TRANSLATION DURING VISITS OR FOR

TRANSLATING DOCUMENTS.

UNDERSTANDING THAT

INTERSECTIONALITY IN RARE

DISEASE, AND ALSO DIVERSITY

AMONG SCIENTIFIC WORKFORCE ARE

ALL UNIVERSAL ISSUES THAT CAN BE

ADDRESSED BY A WIDE NUMBER OF

DIFFERENT PLACES AND

ORGANIZATIONS.

BASED ON DISCUSSIONS WITH RDCRN

LEADERSHIP NEED FOR

COLLABORATION BECAME CLEAR, THAT

LED TO CREATION OF THE DIVERSITY

COMMITTEE.

NOW I'M GOING TO HAND IT OVER TO

TRACY.

>> THANKS, NICOLE.

I'M TRACY KING, I'M A MEMORIAL

OFFICER AT THE EUNICE KENNEDY

SHRIVER INSTITUTE, NICHD.

I'LL TALK ABOUT HOW WE SCALED UP

SOME PRINCIPLES FROM THE IND

DIVERSITY COMMITTEE.

FIRST A LITTLE BIT OF BACKGROUND

ABOUT THE RARE DISEASES CLINICAL

RESEARCH NETWORK, YOU MAY BE

FAMILIAR WITH THE RDCRN, WE MADE

UP OF 20 TEAMS, COLLABORATING TO

ADVANCE RESEARCH AND CLINICAL

CARE FOR SPECIFIC GROUPS OF RARE

DISEASES.

EACH CONSORTIUM IS A PARTNERSHIP

BETWEEN RESEARCHERS, CLINICIANS,

PATIENTS, PATIENT ADVOCACY

GROUPS, THE NIH.

YOU'VE HEARD FROM NICOLE

INHERITED NEURON CONSORTIUM, IS

ONE OF THE 20 TEAMS THAT MAKES

UP THE NETWORK.

SINCE LAUNCHING THE RDCRN

DIVERSITY COMMITTEE LAST YEAR WE

MODELS ASPECTS AFTER THE INC

EFFORTS, TRIED TO SET

EXPECTATION TO BE A WELCOMING

AND FRIENDLY PLACE TO SHARE,

IMPRESSED HOW MANY GROUPS HAVE

BEEN EAGER TO SHARE EXPERIENCES

AROUND THE D.E.I.A AND WITHIN

JUST A FEW CALLS IT'S BECOME

CLEAR THAT MANY RARE DISEASE

CONSORTIA ARE GRAPPLING WITH

SIMILAR ISSUES.

FOR EXAMPLE, ONE COMMON THEME

THAT EMERGED IS NEED FOR

BASELINE DATA.

THIS REALLY ECHOES ONE OF OR

DR. LANGFORD'S POINT.

HOW THESE DISTRIBUTIONS COMPARE

TO RARELY AND ETHNIC OF THOSE

WHO CONSENT, AS WELL AS

DISTRIBUTION OF INDIVIDUALS WHO

ARE RETAINED IN LONGITUDINAL

RESEARCH STUDIES COMPARED TO

THOSE WHO DROP OUT.

MANY GROUPS ARE REALIZING THEY

NEED BETTER BASELINE DATA ON THE

RACIAL AND ETHNIC MAKEUP OF

THEIR WORKFORCE, INCLUDING

INVESTIGATORS, STAFF, TRAINEES.

AS WELL AS MAKEUP OF PATIENT

ADVOCACY GROUPS OFTEN THE FIRST

LINE PARTNERS IN RECRUITING

INDIVIDUALS WITH RARE DISEASES

TO PARTICIPATE IN RESEARCH.

WE'VE BEEN IMPRESSED BY HOW MANY

ITEMS OF INTEREST PEOPLE HAVE

SHARED WITH US TO PASS ON TO

LARGER RARE DISEASE COMMUNITY.

WE'VE CREATED A SECTION OF

MEETINGS CALLED NUGGETS, TO

SHARE ITEMS LIKE THIS MORE

BROADLY.

AND THEY OFTEN HAVEN'T BEEN

RESEARCH RELATED.

FOR EXAMPLE, ONE RECENT NUGGET

WAS A BLOG POST, AT THE LINK

SHOWN HERE, ABOUT THE IMPORTANCE

OF DIVERSITY IN MEDICAL

ILLUSTRATIONS INCLUDING THIS

ILLUSTRATION DEPICTING A LATE

STAGE OF PREGNANCY.

THERE'S NOTHING REMARKABLE ABOUT

THE ANATOMY BEING SHOWN BUT IT

GARNERED ATTENTION, MOST HAD

NEVER SEEN DEPICTING WITH DARK

SKIN.

IN THINKING HOW TO ADVANCE

EFFORTS WE FOUND THAT PEOPLE'S

INTERESTS NATURALLY COALESCED

AROUND THREE TOPICS.

FIRST, WEBINAR SERIES ABOUT

DIVERSITY ISSUES SPECIFIC TO

RARE DISEASES AND RARE DISEASE

RESEARCH.

SECOND, GROUP FOCUSED ON

IMPROVING DIVERSITY AMONG RARE

DISEASE RESEARCH PARTICIPANTS

AND ADVOCATES.

THIRD, IMPROVING DIVERSITY OF

THE RARE DISEASE SCIENTIFIC

WORKFORCE.

THE RECOGNITION OF THE

IMPORTANCE OF BOTH PARTICIPANT

AND WORKFORCE DIVERSITY MIRRORS

STRUCTURE OF MANY OF THE OTHER

D.E.I.A EFFORTS IN TODAY'S PANEL

INCLUDING MY OTHER CO-SPEAKERS

IN THE PANEL, THE INC, MY

INSTITUTE NICHD AND AS YOU HEARD

FROM VENCE BONHAM NIH-WIDE

EFFORTS AS PART OF THE UNITE

INITIATIVE.

A FEW OBSERVATIONS ABOUT WHAT'S

GONE WELL SO FAR.

IT'S BEEN VALUABLE TO HAVE

COMMITTEE MEMBERS AND LEADERS

WITH A VARIETY OF BACKGROUNDS

AND LEVELS OF PROFESSIONAL

EXPERIENCE.

HAVING PEOPLE IN MORE FRONTLINE

PORTIONS LIKE NICOLE SHARE

EXPERIENCES AND ALLOWING

EXPERIENCES TO GUIDE THE GROUP'S

EFFORTS HAS GIVEN A GRASSROOTS

FEEL AND WE BELIEVE CONTRIBUTED

TO A HIGH LEVEL OF ENGAGEMENT

AMONG GROUP MEMBERS.

HAVING A NUGGET SESSION HAS BEEN

A USEFUL WAY TO SHARE

INFORMATION THAT MIGHT NOT FIT

INTO THE STRUCTURE OF A TYPICAL

RESEARCH CALL.

AS WE MENTIONED WE'VE BEEN

STRUCK HOW QUICKLY COMMON THEMES

HAVE BEEN EMERGING, SUCH AS NEED

TO ACCOMMODATE PARTICIPANTS

WHOSE PRIMARY LANGUAGE IS NOT

ENGLISH.

MANY OF THE THEMES ARE SPECIFIC

AND ACTIONABLE.

WE WANT TO ACKNOWLEDGE THAT

DOESN'T MEAN THEY ARE EASY.

AT THE SAME TIME OUR GROUP HAS

FACED CHALLENGES, WITH AN EBB

AND FLOW, WE'VE FOUND THIS

VARYING CADENCE HAS ALWAYS

ALIGNED WITH EXPECTATIONS OF

PEOPLE USED TO GROUPS COMPRISED

OF PEOPLE IN LEADERSHIP

POSITIONS AND WE'VE FOUND

OURSELVES PUSHING BACK AGAINST

CRITICISMS THE GROUP IS LOSING

MOMENTUM, SLOWING THINGS DOWN

HAS OPENED THE DOOR TO GREATER

PARTICIPATION BY THOSE NOT IN

TRADITIONAL LEADERSHIP ROLES.

WE'VE TRIED TO BE INTENTIONAL

AND WELCOMING PEOPLE FROM A

RANGE OF POSITIONS AND

BACKGROUNDS WE HAVE TO

ACKNOWLEDGE OUR STARTING POINT

IS THE RDCRN, BIASED TOWARDS

RESOURCED INSTITUTIONS AND

ADVOCACY ORGANIZATIONS.

AND FINALLY WE WANT TO

ACKNOWLEDGE OUR GOAL, WE'RE NOT

TRYING TO MOVE FORWARD ON ALL

FRONTS AT ONCE.

AS YOU'VE HEARD MOST DISCUSSIONS

HAVE FOCUSED ON THE D FOR

DIVERSITY OF D.E.I.A, WE HOPE TO

MORE DIRECTLY ADDRESS SOME OTHER

ASPECTS IN THE FUTURE.

I WANT TO CALL OUT ACCESSIBILITY

TO DIAGNOSIS, TREATMENT, ABILITY

TO PARTICIPATE IN RESEARCH.

WE KNOW THAT ISSUES AROUND

ACCESSIBILITY ARE RELEVANT TO

MANY OF THE RARE DISEASE

COMMUNITIES INVOLVED IN THE

RDCRN, BUT AS NICOLE AND OTHERS

HAVE NOTED EARLIER, THESE

DISABILITY IT'S AND OTHER

BARRIERS ARE OFTEN NOT VISIBLE.

AND THEREFORE MAY CALL FOR

DIFFERENT STRATEGIES THAN THE

ONES THAT ARE FOCUSED ON EFFORTS

TO IMPROVE DIVERSITY.

OUR OVERARCHING CHALLENGE HAS

BEEN HOW TO KEEP COMMITTEES'

EFFORTS FOCUSED ON MEANINGFUL

CHANGE OVER TIME AND ACROSS A

LARGE NUMBER OF COMMUNITY

MEMBERS AND DISEASE COMMUNITIES.

AND NOW I'D LIKE TO HAND IT BACK

TO NICOLE TO WRAP UP.

>> THANK YOU, TRACY.

WE WANT TO POINT OUT DOs AND

DON'TS TO HELP GUIDE US THROUGH

THE GROWTH OF OUR TWO

COMMITTEES.

THIS ARTICLE FROM THE HARVARD

BUSINESS REVIEW HAS A RESEARCH

BASED TABLE THAT OUTLINES THINGS

THAT WORK AND DON'T WORK.

IN GENERAL RULES AND MANDATES

REGARDING DIVERSITY SHOULD BE

USED WITH CAUTION, AND SOMETIMES

THEY BACKFIRE COMPLETELY.

KEEPING THINGS VOLUNTARY,

FLEXIBLE, PROVIDING SUPPORT AND

TRAINING WITH SOCIAL

ACCOUNTABILITY ARE THE VALUES

THAT HAVE INFORMED THE

APPROACHES IN OUR COMMITTEES.

WE WANT TO CIRCLE BACK TO SOME

KEY POINTS FROM OTHER

PRESENTATIONS, UNDERSTANDING

INTERSECTIONALITY IS REALLY

IMPORTANT TO RECOGNIZE UNIQUE

CHALLENGES THAT INDIVIDUALS AND

FAMILIES AFFECTED BY RARE

DISEASE AND THOSE WHO ARE ALSO

PART OF A MARGINALIZED COMMUNITY

MAY FACE.

ADDRESSING CHALLENGES REALLY

REQUIRES AN INTENTIONAL

APPROACH, INCLUDING PERSONS WITH

RARE DISEASE IN ALL STAGES OF

PLANNING, ENSURING ALL ELIGIBLE

PATIENTS ARE INVITED TO JOIN

RESEARCH STUDIES WHEN AVAILABLE

ARE TWO EXAMPLES.

FOSTERING DIVERSITY IN THE

WORKFORCE IS CRITICAL.

SCIENTISTS AND CLINICIANS ARE

ABLE TO BRING UNIQUE

PERSPECTIVES AND DRAW ON THEIR

LIVED EXPERIENCES TO CULTIVATE

SOLUTIONS TO LONGSTANDING

BARRIERS.

SO, LAST THING BEFORE WE GO WE

HAVE A CHALLENGE FOR EVERYONE.

WHAT CAN YOU DO RIGHT NOW TO

MAKE YOUR WORK MORE DIVERSE,

INCLUSIVE, EQUITABLE, AND/OR

ACCESSIBLE?

WE WOULD LOVE TO HEAR YOUR

EXPERIENCES, ANY THOUGHTS,

CONCERNS, FEEDBACK ABOUT OUR

APPROACHES, NUGGETS,

SUGGESTIONS, ANYTHING ABOUT YOUR

OWN EXPERIENCES WITH GETTING

YOUR D.E.I.A EFFORTS STARTED OR

KEEPING THEM GOING.

WE'VE GOT OUR E-MAIL ADDRESSES

THERE AT THE BOTTOM OF THE SLIDE

AND WE WOULD ABSOLUTELY LOVE TO

HEAR FROM YOU.

THANK YOU FOR LISTENING.

>> I WANT TO THANK THE

PANELISTS.

WE HAVE ABOUT TEN MINUTES FOR A

CONVERSATION AND Q&A.

I'M GOING TO START WITH YOU,

MICHELE, WITH A QUESTION.

CAN YOU TALK ABOUT WHAT IS THE

GENETIC COUNSELING FIELD, WHAT

THEY ARE DOING TO INCREASE

DIVERSITY IN THE GENETIC

COUNSELING WORKFORCE?

>> SO, ON THE SIDE OF EDUCATION,

PROGRAMS ARE TRYING TO HAVE MORE

HOLISTIC APPLICATION PROCESSES,

WHICH WILL HOPEFULLY ALLOW FOR

MORE CANDIDATES OF DIVERSE

BACKGROUNDS TO MAKE IT THROUGH

TO ACTUALLY BEING ACCEPTED TO

BEING MATCHED TO PROGRAMS.

THE MINORITY GENETIC

PROFESSIONALS NETWORK FOR OUR

PART WE HAVE A CAREER FAIR THAT

WE'VE DONE FOR THE LAST TWO

YEARS.

IT'S OPEN TO ALL PROSPECTIVE

STUDENTS BUT WE DO TARGET OUR

MARKETING TOWARDS ORGANIZATIONS

THAT SERVE STUDENTS OF COLOR,

AND SO THAT'S A WAY TO EXPAND

THE POOL OF DIVERSE APPLICANTS.

AND THEN ONCE THE STUDENTS ARE

IN THE PROGRAMS, MGPN HAS A

MENTORING PROGRAM THAT HELPS

STUDENTS TO HAVE MORE SUPPORT

THROUGH THE PROCESS OF GOING

THROUGH GRADUATE SCHOOL BECAUSE

VERY OFTEN THEY MAY BE THE ONLY

STUDENT OF COLOR OLOR IN THEIR

PROGRAM.

THE MENTORING PROGRAM IS HELPING

WITH PROSPECTIVE STUDENTS,

HELPING WITH INTERVIEW PREP,

THINGS LIKE THAT.

>> THANK YOU.

>> TO GET THEM THROUGH THE

PROCESS.

>> GREAT.

THANK YOU FOR YOUR COMMENTS.

AND I WANT TO JUST GO BACK TO

SOME OF THE THINGS YOU WERE

TALKING ABOUT, AND YOU TALKED

ABOUT THE NEED TO THINK ABOUT AN

INDIVIDUAL'S IDENTITY.

CAN YOU EXPLORE FOR JUST A

MOMENT MORE FOR HEALTH CARE

PROVIDERS THE DANGERS OF MAKING

IDENTITY ASSUMPTIONS ABOUT THEIR

PATIENTS WITH RARE DISEASES.

>> YES.

ABSOLUTELY.

THAT'S A TERRIFIC QUESTION.

SO, AS A CASE EXAMPLE, I WOULD

REFER FOLKS TO THE STORY THAT IS

NOW DOCUMENTED ON FILM, 54 YEARS

LATER, THE JOURNEY OF MY FRIEND

TERRY WRIGHT, IS HIS LATE 50s

LIVING WITH CYSTIC FIBROSIS,

TERRY IS AFRICAN AMERICAN.

AND LIKE MANY, AFRICAN AMERICAN

AND GENERALLY BLACK PEOPLE

LIVING WITH CF, DOCTORS DISMISS

THE IDEA THAT TERRY COULD EVEN

POTENTIALLY HAVE C F, EVEN

THOUGH, LIKE ME, HE WAS FAIRLY

TEXT BOOK FROM THE TIME HE WAS

LITTLE.

I GOT MY FIRST TEST FOR CF AT

AGE 4.

THEY COULDN'T GET ENOUGH SWEAT

OFF OF ME TO GET A VALID SAMPLE

BUT AT LEAST BECAUSE I'M SO

LIGHT SKINNED PEOPLE THOUGHT

THAT, HEY, REGARDLESS OF

CULTURAL OR ETHNIC BACKGROUND CF

IS A POSSIBILITY.

THERE ARE A LOT OF PEOPLE OF

COLOR, ESPECIALLY BLACK

AMERICANS, WHO HAVE DIED FROM CF

AND OTHER RARE DISEASES BECAUSE

OF BEING LESS CENSORED OUT OF

THE POTENTIAL TREATMENT POOL

BECAUSE IT WAS DEEMED

IMPLAUSIBLE THEY COULD HAVE A

DISEASE THEY WERE CLEARLY

EXPERIENCING.

IF YOU HAVEN'T SEEN "54 YEARS

LATER" I COMMEND THAT TO YOU AND

RESOURCES BY THE NATIONAL

ASSOCIATION WHICH TERRY AND DR.

WRIGHT HELPED START, CAREFUL NOT

TO MAKE ASSUMPTION.

IF YOU SEE EVIDENCE SOMEONE IS

SUFFERING LEAN INTO THAT, INTO

THE LIVED EXPERIENCE ON WHICH

NOBODY CAN INFORM YOU BETTER

THAN THE PERSON THEMSELVES.

>> THANK YOU.

AISHA, BASED ON ALL YOUR

RESEARCH AROUND ENGAGEMENT AND

PARTICIPATION OF INDIVIDUALS IN

CLINICAL TRIALS, CAN YOU TELL ME

WHAT ARE SOME MYTHS REGARDING

UNDERREPRESENTED POPULATIONS

PARTICIPATING IN CLINICAL

TRIALS?

>> I WOULD SAY FIRST MYTH IS

THAT RACIAL AND ETHNIC

MINORITIES AREN'T INTERESTED AND

THEY ARE ALL MISTRUSTFUL.

I HEAR THAT NARRATIVE

PERPETUATED A LOT, ACTUALLY IN

THE LITERATURE, ALSO HEARD

MEDICAL STUDENTS SAY THAT.

I THINK ALTHOUGH WELL INTENDED

IT'S PARTLY BECAUSE WE TALK

ABOUT PAST ABUSES IN RESEARCH

LIKE TUSKEGEE FOR EXAMPLE, AND

HENRIETTA LACKS CASE WHICH MANY

PEOPLE ARE FAMILIAR WITH.

THOSE ARE REALLY IMPORTANT

CASES, AND TIME POINTS, BUT I

THINK PEOPLE IN 2022 STILL CARE

ABOUT HEALTH.

THEY UNDERSTAND THAT IRBs AND

ETHICS AND HOW WE APPROACH

CLINICAL RESEARCH IS DIFFERENT

THAN IT WAS A HUNDRED YEARS AGO,

FIFTY YEARS AGO, IT'S NOT

PERFECT BUT THERE'S MORE

SAFEGUARDS.

SO I ALWAYS ERR ON THE SIDE OF

DON'T TAKE SOMEONE'S DECISION

AWAY FROM THEM.

OUR JOB AS HEALTH CARE

PROFESSIONALS IS TO SAY HERE ARE

YOUR OPTIONS, WE WANT TO MAKE

SURE PATIENTS ARE AWARE AND

INVITED TO PARTICIPATE IF THEY

WANT TO.

THAT SHOULD BE THE DEFAULT AND

STARTING POINT EVERYBODY CARES

ABOUT THEIR HEALTH AND THAT

EVERYBODY COULD POTENTIALLY BE

INTERESTED IF THEY ARE GIVEN THE

OPPORTUNITY AND CORRECT

INFORMATION TO MAKE THEIR OWN

DECISION.

>> LAST QUESTION TO NICOLE AND

TRACY TOGETHER.

YOU CAN SHARE YOUR PERSPECTIVES

ON THIS QUESTION.

WHAT CAN RARE DISEASE

RESEARCHERS AND PATIENT GROUPS

AND ADVOCACY GROUPS DO TO BETTER

SERVE AND INCLUDE AND ENGAGE

RARE DISEASES PATIENT FROM

MARGINALIZED BACKGROUNDS?

>> THERE ARE A LOT OF THINGS

THAT CAN BE DONE.

I THINK THAT MOST OF THE THINGS

WE'RE DOING CURRENTLY ARE NOT

NECESSARILY TIME CONSUMING OR

EXPENSIVE.

APPROACHING PATIENTS DIRECTLY,

LETTING MEME KNOW -- PEOPLE KNOW

IT'S AN OPTION, IN THE FUTURE,

MAYBE IN A COUPLE YEARS WE'LL

HAVE A TRY, LETTING THEM KNOW

THAT'S A POSSIBILITY.

THE THINGS WE'VE DISCUSSED AND

HAVE STARTED WORKING ON ARE MORE

TARGETED MARKETING TOWARD

DIFFERENT COMMUNITIES, SPEAKING

WITH COMMUNITY LEADERS,

MARKETING IN DIFFERENT

LANGUAGES, A LOT CAN BE DONE TO

ENGAGE THAT ISN'T OFTEN BEING

DONE UNFORTUNATELY.

>> TRACY FOR CLOSING COMMENT.

>> I'LL ECHO NICOLE'S POINTS,

NEEDING TO DO BETTER AT OFFERING

PEOPLE OPPORTUNITIES.

I THINK WHAT I HAVE COME TO

APPRECIATE WORKING WITH RDCRN IS

JUST HOW MUCH OF A POSITION OF

PRIVILEGE WE'RE STARTING FROM.

YOU KNOW, GRANTEES TEND TO BE

VERY HIGHLY RESOURCED

ORGANIZATIONS, AND THEY TEND TO

BE USED TO SEEING PEOPLE WHO

HAVE RESOURCES TO ACCESS

SERVICES THEY ARE OFFERING.

SAME IS TRUE FOR ADVOCACY

ORGANIZATIONS WE WORK WITH.

YOU KNOW, THERE'S INCREDIBLE

PASSION AND DEDICATION AMONG

ADVOCACY GROUPS, BUT MANY OF THE

GROUPS MOST ACTIVE TEND TO BE

HIGHLY RESOURCED AND TEND TO

ENGAGE PEOPLE WHO ALREADY EXIST

IN THEIR OWN SOCIAL CIRCLES, AND

I THINK THEY REALLY WANT TO DO

BETTER BUT WE WOULD REALLY LIKE

TO KIND OF GO ON THIS LEARNING

EXPERIENCE TOGETHER OF HOW TO DO

THAT BETTER, OF HOW TO EXTEND

BEYOND YOUR TYPICAL, YOU KNOW,

I'M RECRUITING THROUGH SOCIAL

MEDIA, TO PEOPLE WHO ARE LIKE

ME.

AND WHETHER THAT IS RELATED TO

SKIN COLOR, EDUCATION, INCOME,

GEOGRAPHY, WHATEVER THAT HAPPENS

TO BE.

BUT I HAVE BEEN REALLY, REALLY

INSPIRED BY JUST HOW MUCH

INTEREST THERE IS IN RARE

DISEASE COMMUNITY TO DO BETTER

IN THIS SPACE.

>> GOOD.

THANK YOU TO EVERYONE FOR SUCH A

GREAT PANEL.

>> I WANT TO THANK EVERYONE WHO

WATCHED THIS IMPORTANT

CONVERSATION TODAY ABOUT EQUITY,

DIVERSITY, WITHIN RARE DISEASE.

WE WANT TO CLOSE WITH SOME

WEBSITES FOR YOU TO GO TO FOR

MORE INFORMATION.

I START HERE.

IF YOU ARE DOING RESEARCH, AND

LOOKING FOR FUNDING

OPPORTUNITIES, RELATED TO

RESEARCH AND DIVERSITY, I

ENCOURAGE YOU TO GO TO NIH, TO

EXTRAMURALDIVERSITY.NIH.GOV.

HERE ARE RESOURCES FOR FAMILIES

SEEKING INFORMATION WITH REGARDS

TO RARE DISEASES, AND ISSUES

WITH REGARDS TO EQUITY AND

DIVERSITY IN RARE DISEASES.

YOU SEE THESE WEBSITES THAT CAN

BE OF BENEFIT.

AGAIN, THANK YOU.

WE LOOK FORWARD TO CONTINUING

THIS CONVERSATION IN OUR

COMMUNITIES.

>> HELLO EVERYONE, WELCOME BACK

TO THE RARE DISEASE DAY AT NIH.

MY NAME IS PJ BROOKS, I'M ACTING

DIRECTOR OF OFFICE OF RARE

DISEASE Z RESEARCH, HAPPY TO

CHAIR THE SESSION THIS AVERAGE.

SOME OF YOU HAVE BEEN WITH US

FOR MANY YEARS, MAY REMEMBER A

COUPLE OF YEARS AGO WE HAD A

PRESENTATION BY TIM AND JULIE ON

THE DIRECTOR OF OLIGONUCLEOTIDE

THERAPY FOR A SINGLE PATIENT.

AND IN THE YEARS SINCE THEN

THERE'S BEEN SUBSTANTIAL

PROGRESS IN THE ADAPTING THAT

APPROACH SO CALLED N OF 1

OLIGONUCLEOTIDE APPROACH TO MORE

DISEASES AND THAT IS WHAT WE

WILL FOCUS ON TODAY SO WE HAVE

SEVERAL SPEAKERS INCLUDING BART

ROGERS FROM U.S. FDA CENTER FOR

DRUG EVALUATION. MEHMET KUZU,

RARE DISEASE PATIENT, SCOTT

DEMAREST, UNIVERSITY OF COLORADO

AND ADELINE VANDEVER, UNIVERSITY

UNIVERSITY OF PENNSYLVANIA WHO

WILL BE OUR SPEAKERS AND THEY

WILL MAKE THE PRESENTATION THEN

WE'LL HAVE TIME FOR OPEN

DISCUSSION. SO LET ME FIRSTHAND

IT OVER TO HOBART ROGERS.

>> GOOD AFTERNOON, EVERYONE, MY

NAME IS HOBART ROGERS, CLINICAL

PHARMACOLOGIST, FDA OFFICE OF

CLINICAL PHARMACOLOGY AND

DIVISION OF TRANSLATIONAL

PRECISIONAL MEDICINE. I HAVE

BEEN ASKED TO SPEAK ABOUT NEW

GUIDANCE TODAY AND IND

SUBMISSIONS FOR INDIVIDUAL

ANTISENSE AL GO NUCLEOTIDE DRUG

PRODUCTS FOR FACILITATING LIFE

SAVING DISEASES AND SPECIFICALLY

TALKING ABOUT THE CLINICAL

GUIDANCE. THERE ARE TWO SISTER

GUIDANCE PUBLISHED AROUND THE

SAME TIME, ONE GUIDANCE DEALING

WITH THE CLINICAL -- CHEMISTRY

MANUFACTURING AND CONTROLS, THE

CMC GUIDANCE AN ANOTHER

NON-CLINICAL GUIDANCE,

SPECIFICALLY SPEAKING IN THE

SHORT SESSION TO OUR CLINICAL

GUIDANCE. I HAVE WORKED IN THE

PERSONALIZED MEDICINE SPACE THE

WHOLE TIME SINCE IN FDA AND

IMPORTANT TO DEFINE TERMS HERE P

PERSONALIZED MEDICINE IS FINDING

THE RIGHT DRUG ON THE SHELF TO

TREAT PATIENT OR AS WE HAVE A

NEW ARMAMENTARIUM WITH

INDIVIDUALIZED MEDICINE TO

CREATE THE RIGHT DRUG IN HIGHLY

CUSTOMIZABLE FASHION TO TREAT

THE PATIENT, SOMETIMES THESE

DRUGS ARE KNOWN AS N OF 1 OR

SPOKE THERAPIES.

>> I WILL GIVE YOU THE CLIFF

NOTES OF SENSE O OUR DRAFT

GUIDANCE PUBLISHED ON THE FDA

WEBSITE AND WHILE I'M GOING OVER

THE GUIDANCE IT SETS THE TABLE

FOR OUR LATER DISCUSSION OF KEY

CONSIDERATIONS WITHIN THIS

FIELD. SO STARTING OFF I WILL

TALK ABOUT ETHICAL HUMAN SUBJECT

PROTECTION CONSIDERATIONS,

DIAGNOSTIC AND GENETIC

CONSIDERATIONS, DOSING

CONSIDERATIONS, FOR THESE NEW

THERAPEUTICS, ANTISENSE

OLIGONUCLEOTIDES WHICH HAVE BEEN

ON THE SCENE THE LAST DECADE AND

NEW ARMAMENTARIUM TODAY, I WANT

TO TALK DRUG PRODUCT

ADMINISTRATION PROCEDURES,

SAFETY ASSESSMENT AS THESE

OLIGONUCLEOTIDES HAVE UNIQUE

SAFETY CONCERNS AND IMPORTANTLY

THE ASSESSMENT OF CLINICAL

RESPONSE. NOW, IN TODAY'S SCOPE

WE WILL ONLY TALK ABOUT VEERLY

DEBILITATING OR LIFE THREATENING

GENETIC DISEASE RELATESSED TO

GUIDANCE, IMPORTANTLY THESE

INDIVIDUALS WITH DISEASES WILL

HAVE NO AL EARNTIVE TREATMENT

OPTIONS AND DISEASE RAPIDLY

PROGRESSING RESULTING IN EARLY

DEATH OR DEVASTATING

IRREVERSIBLE MORTALITY WITHIN A

SHORT TIME FRAME WITHOUT

TREATMENT. SO THERE'S OTHER SEEN

EWES FOR RARE DISEASE, FDA

SUPPORT ACTIVE OF RARE DISEASE

DEVELOPMENT BUT THIS IS UNIQUE

SCOPE OF THE GUIDANCE. THE DRUG

DEVELOPMENT OF LARGE NUMBER OF

PATIENTS SAME DISEASE NOT

ANTICIPATED BECAUSE OF

SPECIFICITY THE MECHANISM OF

ACTS OF ANTISENSE COMBINE WITH

THE RARITY OF THE TREATMENT OF

ANIMAL PATIENT POPULATION. SO

KEY CONSIDERATIONS. STARTING

FROM A 20,000-FOOT. THE GENE

VARIANT SHOULD BE TARGETED TO A

TRIAL PARTICIPANT, ONE OR TWO IN

THE DISEASE POPULATION. THIS IS

HIGHLY CUSTOMIZABLE THERAPY, THE

INDIVIDUALIZED ANTISENSE DRUG

PRODUCT SHOULD BELONG TO A WELL

CHARACTERIZED CHEMICAL CLASS.

THAT IS A CHEMICAL CLASS,

SUBSTANTIAL NON-CLINICAL

INFORMATION IN CLINICAL

EXPERIENCE WITH THE FDA.

EXAMPLES OF THESE ARES TO

FORLESING L STRANDEDS TO FORM

HYOID BACKBONE OLIGOSENSE

NUCLEOTIDES AND SYSTEMIC OR

INTRATHECAL ROUTE OR

OLIGONUCLEOTIDES, P,Os WITH

THE CURRENT ROUTE. ETHICAL

CONSIDERATIONS FOR THESE

ANTIGENS OLIGONUCLEOTIDE. IT IS

IMPORTANT THEY MUST BE APPROVED

IN A LEGAL SENSE AND REVIEWED BY

IRB BEFORE PREASSING. WHEN

APPROPRIATE SIGNIFICANT NEW

FINDINGS DEVELOPED DURING

RESEARCH THAT MIGHT HAVE FOR

TRIAL PARTICIPANTS WILLINGNESS

TO CONTINUE IN THE RESEARCH

SHOULD BE PROVIDED TO THE

PATIENT. FDA WANTS TO BE

ITERATIVE PROCESS, RECOGNIZING

THAT THE NATURE OF THE DISEASE

AND RAPID PROGRESSION OF DISEASE

MANY OF THESE NON-CLINICAL

FINDINGS ARE GOING TO BE ONGOING

DURING THE TIME OF DEVELOPMENT

SO IF NEW FINDINGS SHOULD OCCUR

WE WANT TO COMMUNICATE TO THE

PATIENT AND AS NEW DATA

AVAILABLE FROM TREATING THE

PATIENT, MAKE SURE THAT IS

AVAILABLE. DIAGNOSTIC AND

GENETIC CONSIDERATIONS. THE

TRIAL PARTICIPANTS CLINICAL

GENETIC DIAGNOSIS SHOULD BE CON

TERMED THROUGH RELEVANT TESTING

GENE SEQUENCING, ENZYMATIC

ANALYSIS, WHAT HAVE YOU.

SPONSORS IMPORTANTLY TO PROVIDE

EVIDENCE THAT ESTABLISHES THE

ROLE THE GENE VARIANTS TARGETED

BY ANTISENSE DRUG. WHAT I MEAN

BY THIS, ANTISENSE

OLIGONUCLEOTIDE FOR THOSE WHO

MIGHT NOT BE FAMILIAR, UNLIKE

SMALL MOLECULES OR PROTEIN BASED

THERAPEUTICS, THEY ARE LEVEL

UPSTREAM, THEY ARE TARGETING THE

MESSENGER RNA, DNA RNA PROTEIN,

THESE DRUGS WORK AT LEVEL RNA TO

THEREFORE SILENCE AN ABERRANT

PROTEIN CAUSING DISEASE OR

INCREASE LEVEL OF PROTEIN THAT

IS ABOUT SENTENCE IN CAUSING

DISEASE. SO NEED TO PROVIDE

EVIDENCE ESTABLISHES THE ROLE

THE GENE VARIANT TARGETED BY

ANTISENSE IS PATHOGENIC IN TRIAL

DISEASE. MOREOVER SPONSORS

SHOULD PROVIDE EVIDENCE THE

VARIANTS ARE UNIQUE TO THE TRIAL

PARTICIPANT. DOSING

CONSIDERATIONS. AS I MENTIONED,

THESE COMPOUNDS ARE RELATIVELY

NEW, IN OUR CLINICAL

ARMAMENTARIUM AND MUCH TO BE

LEARNED. THE STARTING DO IT

SHOULD BE AVAILABLE ON

NON-CLINICAL DATA. GIVEN NATURE

OF THESE DISEASES, THIS CLINICAL

DATA IS OFTEN VERY LIMITED

EXTENT AND ACCRUING DURING THE

COURSE OF STUDY. SO BASED ON

THAT THE STARTING DOSE SHOULD BE

CALCULATED ON INTERSPECIES DOSE

COMPARISON AN MORE INFORMATION

FOUND ON IN OUR NON-CLINICAL

GUIDANCE TAME TOPIC. GIVEN THE

LIMITED NON-CLINICAL DATA WHEN

DOSING IS INITIATED THE SPONSORS

SHOULD CONSIDER A DOSE

ESCALATION APPROACH OR DOSING IS

INITIATED AND ESCALATED TO

HIGHER DOSES BASED ON

PHARMACODYNAMIC PD EFFECTS

AND/OR TRIAL PARTICIPANT

RESPONSE INVESTIGATIONAL DRUG

PRODUCT AS WELL AS AVAILABLE

NON-AVAILABLE DATA SO UTILIZE

EVERYTHING WE HAVE AVAILABLE TO

GUIDE IN THIS DOSING

CONSIDERATIONS. MOREOVER GIVEN

LIMITED NATURE OF THE

NON-CLINICAL DATA SPONSORS

SHOULD INCREASE DOSES CAUTIOUSLY

DURING DOSE ESCALATION TYPICALLY

NO MORE THAN TWOFOLD INCREMENT.

I SHOULD NOTE UNLIKE SMALL

MOLECULES OR PROTEIN BASED

THERAPEUTICS ANTISENSE

OLIGONUCLEOTIDES HAVE RELATIVELY

IN GENERAL LONG PHARMACODYNAMIC

HALF LIVES SO THIS IS IMPORTANT

THAT WE ALLOW SUFFICIENT TIME TO

RESERVE RESPONSE TO A DOSE

CHANGE BEFORE MAKING FURTHER

MODIFICATION. AGAIN THOUGH IT

MAY NOT BE DETECTABLE FROM

PHARMACOKINETICS STANDPOINT A

PHARMACODYNAMICALLY ALTERING RNA

AND DOWNSTREAM PROTEIN MAY TAKE

A WHILE SO ALLOW SUFFICIENT TIME

FOR DOSE INCREASING. THERE ARE

UNIQUE ADMINISTRATION

CONSIDERATIONS FOR THESE, SOME

OF THESE ANTISENSE

OLIGONUCLEOTIDES ARE

ADMINISTERED INTERTHECALLY TO

TARGET CNS DISEASE. THEY SHOULD

ADMINISTER START DOSE FOR EACH

ESCALATION IN IN PATIENT

SETTING. AND MONITOR PATIENTS

FOR 24 HOURS FOR UNTOWARD

EFFECTS OF DRUG OR

ADMINISTRATION ISSUES

ENTERTHECAL ADMINISTRATION. ONCE

SUFFICIENT TIME IS ALLOWED TO

SPONSOR TO ADEQUATELY

CHARACTERIZE SAFETY AND

TOLERABILITY AT GIVEN DOSE THESE

COULD BE ADMINISTERED IN

OUTPATIENT CLINIC SETTING. WE

RECOGNIZE THIS CAN BE BURDENSOME

ON MANY FAMILIES, VERY LIMITED

LOCATIONS THAT CAN ADMINISTER

THESE DRUGS, INTRATHECAL OLIGOS

SO AFTER ADEQUATELY THE SAFETY

HAS BEEN ADEQUATELY QUARKIZED

FOLLOWING THE FIRST DOSE THEY

CAN BE ADMINISTERED IN

OUTPATIENT CLINIC SETTING,

HOWEVER FOR INTRATHECAL

OLIGONUCLEOTIDES THEY HAVE TO BE

EXPERIENCED MEDICAL PERSONNEL

LIKE PEDIATRIC ANESTHETIST TO

ADMINISTER THROUGH THIS PROCESS.

SAFETY ASSESSMENT. AGAIN, THESE

ARE ANTISENSE OLIGONUCLEOTIDES

ARE RELATIVE THROUGHLY NEW SO

SPONSORS PERFORM ROUTINE SAFETY

ASSESSMENTS SOME DEPENDENT ON

THE UNIQUE OLIGONUCLEOTIDE AND

THE BIOINFORMATIC DATA OR

NON-CLINICAL DATA INFORMING US

INVESTIGATING NUANCE FOR PROGRAM

IN ADDITION THEY SHOULD CONTINUE

TO MON FOR SAFETY BASED ON

ANTICIPATED HALF LIVE OF THE A

ANTISENSE OLIGONUCLEOTIDE

PRODUCT. THIS IS MORE ON THE

PHARMACODYNAMIC HALF LIFE HAS

THESE THINGS TEND TO HAVE

RELATIVELY LONG HALF LIVES IN

INTRACELLULAR LEVEL TO CONTINUE

SUPPRESS PROTEIN OR INCREASE

SPLICING AND MAKE A NEW PROTEIN.

NOW, IN SOME OLIGOEWE CLEO TIDES

WITH A PHOSPHORYLATED BACKBONE

THERE'S A RICK OF CYTOPENIA,

THOUGH RARE CAN BE SERIOUS SO

ANY ANTISENSE OLIGONUCLEOTIDE IN

THIS SPACE THAT HAS A BACKBONE

BE MONITORED FOR

THROMBOCYTOPENIA AND SPONSORSHIP

FORM INTERVIEW PLATELET COUNT

EVERY TWO WEEKS OFFER OR BEFORE

DOSE ADMINISTRATION, WHENEVER IS

MORE FREQUENT. AND LAST BUT NOT

AT LEAST, THIS IS VERY IMPORTANT

TO THE AUDIENCE TODAY, THIS

ASSESSMENT OF THE CLINICAL

RESPONSE. THERE ARE NUMBER OF

TOOLS AVAILABLE FOR SPONSORS TO

USE CLINICAL ASSESSMENTS. FOR

INSTANCE THEY CAN USE CLINICAL

OUTCOME ASSESSMENT SCALES,

PERFORMANCE BASED ASSESSMENT,

VERY IMPORTANT, TO THE AUDIENCE

IS IN MANY CASES CAREGIVER

REPORTING CHANGES AND SIGNALS.

THE FDA IS LISTENING TO PATIENT

WHAT IS IS IMPORTANT, SIMPLE

LIKE BEING ABLE TO UTILIZE A

MOUSE TO MAINTAIN SOME DAILY

FUNCTION OR WORK LIFE. THINGS

LIKE THAT WE LISTEN TO. OF ALSO

IMPORTANT CONSIDERATION ARE

PHARMACODYNAMIC BIOMARKERS,

PROOF OF CONCEPT THE ANTISENSE

OLIGONUCLEOTIDE IS DOING WHAT IT

IS DESIGNED TO DO. FOR INSTANCE

IF SUPPRESSING A PROTEIN THAT IS

ABERRANT IN THE UNDERLYING CAUSE

OF THE DISEASE, A MEASUREMENT OF

FOR INSTANCE CSF PROTEIN SHOWING

THIS PROTEIN IS DECREASING

FOLLOWING THE ADMINISTRATION OF

THE ANTISENSE OLIGONUCLEOTIDE IS

HELPFUL FOR US IN ASSESSING

RESPONSE TO THESE CUSTOMIZABLE

PRODUCTS. LAST BUT NOT LEAST,

THE PROTOCOL SHOULD HAVE

PRE-SPECIFIED PLAN FOR ASSESSING

TRIAL PARTICIPANTS CLINICAL

RESPONSE TO INVESTIGATIONAL ASO

TO ENSURE THE BENEFIT RISK

ASSESSMENT REMAINS FAVORABLE.

FDA RECOGNIZES THIS IS A UNIQUE

PROCESS WE ARE VERY EARLY IN THE

LEARNING CURVE OF MOLECULES AND

MAKE SURE BENEFIT RISK IS

MAINTAINED THROUGHOUT THE

PROCESS. OF GRANTING THIS. WITH

THAT AGAIN FDA REMAINS COMMITTED

TO LAYER DISEASE PROGRAMS AND

PATIENTS REMAIN FLEXIBLE AND

RECOGNIZE THERE IS MUCH TO BE

LEARNED AND WE RELY ON OUR

PATIENTS TO BEST INFORM US WITH

THAT BEING SAID THANK YOU. O

>> HI, EVERYBODY. I'M MEHMET

KUZU, FATHER OF A RARE DISEASE

PATIENT. AND TODAY I WOULD LIKE

TO TALK ABOUT OUR JOURNEY

TOWARDS PERSONALIZED ANTISENSE

OLIGONUCLEOTIDE THERAPY. WHO IS

IN THE PICTURE, WAS BORN BACK IN

MARCH 22, 2017. AFTER TEN DAYS

OF HER BIRTH, WE GOT THE CALL

FROM HER PEDIATRICIAN AND SHE

SAID THAT SHE WAS CALLED AT

NEWBORN SCREENND AND SOMETHING

CALLED SEVERE IMPUGNED

IMMUNODEFICIENCY BUT NEED TO RUN

TESTS TO VALUE DATE. WHEN THEY

RUN THE TESTS TURNS OUTS TO BE

SHE DOESN'T HAVE SEVERE COMBINED

IMMUNE DEFICIENCY BUT SOMETHING

IS WEIRD ABOUT HER IMMUNE

SYSTEM.ND THEY REFER US TO

STANFORD FOR FURTHER

INVESTIGATION. THEN SHE WAS

AROUND SIX MONTHS OLD, WE GOT

THE NEWS, WE LEARNED WHAT IS

GOING ON. IT IS BASED ON THE

WHOLE EXOME SEQUENCING. AND IT

TURNS OUT TO BE THAT SHE HAS A

RARE GENETIC DISEASE WHICH IS

CALLED ATAXIA TELANGIECTASIA.

WHICH WE HAVEN'T HEARD BEFORE.

AND IT WAS A SHOCKING NEWS FOR

US BECAUSE WHAT THEY TOLD US

THAT IT DOESN'T HAVE ANY KNOWN

CURE AND WE CAN ONLY MANAGE

SYMPTOMS AND IT HAS IT WILL HAVE

BAD CONSEQUENCES IN THE FUTURE.

WILL CAUSE LOSS OF MUSCLE

CONTROL AND BALANCE, WHICH LEAD

TO THEM ISSUES LIKE SHE WILL NOT

BE ABLE TO WALK. SHE CANNOT

CLEARLY SWALLOW EASILY, SHE WILL

NOT BE ABLE TO READ AFTER WHILE

AND HAVE OTHER PROBLEMS LIKE

CANCER LUNG DISEASE IMMUNOSYSTEM

PROBLEMS. AFTER OVERCOMING THIS

SHOCK, WE STARTED INVESTIGATING

TO SEE IF THERE IS SOMETHING IN

THE HORIZON LIKE ANY RESEARCH

THAT IS BEING CONDUCTED ABOUT

THE SUBJECT. WE TRIED TO REACH

OUT TO EXPERTS AND SOME OF OUR

FRIENDS WORKING IN THIS SPACE,

AND ONE OF MY FRIENDS WHO IS A

GENETICS POST DOC AT STAN FORD

FOUND A PAPER AND SENT IT TO OUR

WAY, IT WAS A VERY INTERESTING

PAPER THAT -- IT WAS SAYING HA

THIS EXACT SAME MUTATION OF OUR

DAUGHTER HAS BEEN STUDIED -- HAS

BEEN FOUND LIKE 20 YEARS AGO AND

AT UCLA THEY DEVELOPED ANTISENSE

OLIGONUCLEOTIDES TO FIX IT. AT

THE LAB ENVIRONMENT AND IT WAS

WORKING FINE. SO WE GOT VERY

EXCITED AND WE FLIED TO UCLA

RIGHT AWAY AND FOUND THOSE

RESEARCHERS IN THE -- THEY SAID

YES, IT WORKED IN THE LAB

ENVIRONMENT BUT THERE IS STILL

BIG GAP FROM LAB EXPERIMENTS AND

MAKING IT AVAILABLE TO HUMANS.

THIS WILL NOT HAPPEN SOON SO IT

WAS A HEART BREAKING NEWS FOR US

AT THAT POINT. AND THEN NOW AT

THIS POINT I WOULD LIKE TO TALK

ABOUT A CHILDREN'S PROJECT WHICH

CROSSED OUR PATHS IN THE RARE

EARLY CASES OF OUR JOURNEY. THE

PROJECT IS NOT PROFIT FOUNDATION

TO OPTIMIZE DISEASE MANAGEMENT

STRATEGIES AND DEVELOP NEW

TREATMENTS AND FIND A CURE FOR

AT. THEY GUIDED US FROM THE

BEGINNING. ONE DAY THEY SHARED

WE CHOSE TALKS WITH MELA. SO

THEN WE LOOKED AT TWO THINGS,

THEY ARE VERY SIMILAR SO OUR

CASE IS SINGLE GENE DISEASE

NEURODEGENERATIVE DISEASE AND WE

KNOW OUR MUTATION TYPE SLICE

MUTATION AMENABLE TO ASO. THINGS

LIKE FIT NICELY TOGETHER AND THE

DIFFERENCE FROM THE UCLA LAB

EXPERIMENTS IS NOW SOMEBODY IS

DOING IT IN HUMAN BEING, SO NOW

THERE IS A VERY GOOD POTENTIAL

THERE. WE REACHED OUT TO THE

TEAM RIGHT AWAY AND WE MENTIONED

THAT LIKE OUR MUTATION SEEMS TO

BE AMENABLE TO THIS AND WE HAVE

SEEN THE WORK ON MILA, COULD YOU

HELP US? WE SEND THE DOCUMENTS

TO HIM AND HE SAID WE CAN DO

SOMETHING. BUT WILL IS ONE MORE

PROBLEM NOW, THE PROBLEM NOW IS

THAT THE FINANCE. TO RUN THIS

STUDY LIKE WE DID AROUND $2

MILLION. FORTUNATELY A

CHILDREN'S PROJECT STEPPED IN

AND AGREED TO FUND THIS TRIAL.

BUT THIS -- THE FUNDING FOR A-T

CHILDREN'S PROJECT IS COMING

FROM ALL THE A-T FAMILIES. THEY

ARE INCREDIBLE EFFORTS TO RAISE

DONATIONS AND IT WILL NOT BE

FAIR IF IT IS APRIED TO OUR

DAUGHTER. SO WE NEED LIKE MUCH

-- A BETTER PROCESS FOR THE

SELECTION OF WHICH SELECTION OF

THE PATIENT. A-TCP HAS A GENETIC

BANK FOR THE KIDS. AND THE LAB

QUICKLY DETECTED YOUNG KIDS

WHOSE MUTATIONS ARE AMENABLE TO

ASO THERAPY, AND INCLUDING THREE

YOUNG KIDS SELECTED FOR LAB

EXPERIMENTS. THEN THIS HAS A LOT

EXPERIMENT RESULTS FOR OUR

DAUGHTER BUT IT SAYS HERE WHEN

SHE NORMALLY HAS PATHOGENIC

PROTEIN. SO SHE IS NOT PRODUCING

ANY GOOD PROTEIN. THEN THEY

TRIED DIFFERENT ASOs AND ON

THE LINE LIKE THIS, ASO NUMBER

8, WHEN THEY TRIED THE CELL

LINES IT PRODUCE 55% HEALTHY

PROTEIN. NORMAL ATM. THESE THREE

KIDS, THIS 55% NORMAL ATM WAS

THE BEST RESULT. SO FOR THE

OTHER KIDS THIS WAS LIKE THESE

PERCENTAGES WAS LESS. SO THEN

OUR BASED ON THESE RESULTS OUR

DAUGHTER WAS SELECTED FOR THE

FIRST A-T PATIENT TO TRY ASO.

AND THEN FOR ALMOST A YEAR THEY

RAN TOXICOLOGY EXPERIMENTS AND

WHEN SHE WAS AROUND 2 1/2 YEARS

OLD, EARLY 2020, SHE STARTED

GETTING ANTISENSE

OLIGONUCLEOTIDES. SO IT HAS BEEN

ALMOST TWO YEARS SO FAR. BUT AT

THIS POINT STILL IT IS -- WE

DON'T HAVE A CONCRETE ANSWER. IT

IS WORKING FINE. WHAT I CAN SAY

IS IT IS THE MOST MISSING

APPROACH AT THIS POINT FOR ALL

A-T COMMUNITY AND THERE ARE

STILL LOTS OF UNKNOWNS THINGS TO

BE LEARNED BUT WE ARE EXCITED

AND WE ARE HOPING WE CAN GIVE

SOME GOOD NEWS TO EVERYONE IN

THE FUTURE. THANK YOU, VERY MUCH

FOR LISTENING AND HAVING ME.

>> HI. THANKS FOR THE INVITATION

TO SPEAK HERE. I'M SPEAKING ON

BEHALF OF RELATIVELY RECENTLY

FORMED COLLABORATIVE TO TRY TO

ADVANCE THESE TYPES OF N OF 1

THERAPEUTICS CALLED THE N OF 1

COLLABORATIVE. I'M PART OF THE

STEERING COMMITTEE FOR THAT AND

I WANT TO INTRODUCE EVERYONE TO

OUR COLLABORATIVE AND WHAT WE

ARE TRYING TO ACHIEVE. WHAT I'M

GOING TO TRY TO WORK THREW TODAY

IN THIS BRIEF TALK IS HOW DID WE

GET WHERE WE ARE NOW AND WHY

NOW, WHY IS THE TIME TO BE

TRYING TO ADVANCE THIS TYPE OF

WORK. WHO ARE WE, WHAT IS OUR

MISSION, VISION AND VALUES? AND

STRUCTURALLY HOW ARE WE HOPING

TO TRY TO SUPPORT THIS TYPE OF N

OF 1 THERAPEUTICS IN THE BROADER

SENSE. MANY PEOPLE ARE FAMILIAR

WITH THE -- STORY THIS IS ARE IT

STARTED WITH TIM, MILA. MANY

PEOPLE MAY NOT REALIZE THAT WHY

AM I INVOLVED? THEY ARE FROM

COLORADO AND I WAS THEIR

TREATING PHYSICIAN AS THE TRIAL

PROGRESSED AND WE EVENTUALLY

BROUGHT IT BACK TO COLORADO. SO

WE STARTED WITH A SINGLE PATIENT

APPROPRIATELY. MILA. AND WE HAVE

MOVED TO A WHOLE HOST OF OTHER

INITIATIVES THAT HAVE BEEN

ADVANCED BY VARIOUS GROUPS, BOB

BROWN, JOHN WATTS, KNEEL

SCHNEIDER, THEIR FASTK FORCE AND

OLIGONUCLEOTIDE SOCIETY, AMIKA

ALSO RUN BS THE DUTCH CENTER FOR

RNA THERAPEUTICS ADVANCE

ADVANCING N OF 1 THERAPIES IN

EUROPE AS WELL, AND STAN CROOK

AND LOREM AND FRANK BENNETT AND

THEIR SUPPORTING N OF 1

THERAPIES WITH THE KNOWLEDGE AND

EXPERIENCE I BRING TO BEAR. SO

WHY NOW? WHY IS THIS THE RIGHT

MOMENT FOR US TO START TALKING

ABOUT N OF 1 THERAPIES? THERE IS

A FEW FACTORS THAT ARE IMPORTANT

HERE. CERTAINLY TECHNOLOGICAL

ADVANCEMENT. THIS WOULD IT HAVE

BEEN POSSIBLE FROM A

TECHNOLOGICAL PERSPECTIVE TEN

YEARS AGO. THAT INCLUDES NEW

DRUG DEVELOPMENT, SOME OF THE

THINGS BART REFERRING TO ASO

CLASS OF DRUGS BUT ALSO CLASSES

OF DRUGS ADVANCEMENTS IN CRISPER

AS WELL AND OTHER TYPES OF GENE

EDITING PLATFORMS. SO AS THESE

DRUGS DEVELOPMENT TECHNOLOGIES

MATURE TO A POINT THAT WE REALLY

ARE STARTING TO SEE CLINICAL

EXAMPLES, -- THESE TOOLS

UTILIZED IN PATIENTS, THE FDA

GUIDANCE IS A REALLY IMPORTANT

MARKER FOR US OF MATURATION OF

THIS FIELD AND THE NEEDS TO BE

ABLE TO START TO DEVELOP

INDIVIDUALIZED MEDICINE BUT

IDEALLY DO IT IN A COLLABORATIVE

WAY HA SUPPORTS CROSS LEARNING.

THANK YOU FOR GIVING SOME

INSIGHT TO THE FDA PERSPECTIVE

AROUND THIS. WE HAVE AN AN

EXPONENTIALLY INCREASING NUMBER

OF EFFORTS HAPPENING BY

DIFFERENT GROUPS, THIS CREATES A

NEED FOR HOW TO ORGANIZE

DIFFERENT EFFORTS IN ORDER TO

MAXIMIZE IMPACT OF ANY ONE

PROJECT. WE WANT TO THINK YES,

WE WANT TO IMPACT THIS

PARTICULAR PATIENT BEING TREATED

BUT ALSO WANT TO KNOW HOW DOES

THAT ADVANCE OVERALL SCIENCE

TOWARDS BEING ABLE TO TREAT MORE

PATIENTS. FINALLY I WANT TO

TALK ABOUT THE ASO SPECIFICALLY

AND WHY ARE WE THINKING STARTING

WITH ASOs? OUR N OF ONE

COLLABORATIVE SHOT SPECIFIC TO

ASOs, WE ARE HAPPY TO SUPPORT

N OF 1 THERAPEUTICS ACROSS ANY

NUMBER OF TREATMENT MODALITIES.

BUT WE ARE STARTING WITH THE

THOUGHT PROCESS AROUND ASOs

BECAUSE THEY HAVE REALLY LED THE

WAY WITHIN THE N OF 1 SPACE.

THEY ARE RELATIVELY INEXPENSIVE

TO MANUFACTURE RELATIVELY. THEY

ARE RELATIVELY EASY TO DELIVER.

RELATIVELY. AND WE HAVE GROWING

SAFETY DATA THAT SUPPORTS THE

ABILITY TO PROVIDE TREATMENTS IN

PATIENTS. AND FINALLY, THEY ARE

RAPIDLY CUSTOMIZABLE. THAT IS

NOT TO SAY GENE EDITING ORTHER

PIE -- THERAPIES OF OTHER TYPES

ARE NOT APPROPRIATE AS WELL AND

ADVANCING TOWARD N OF 1 STATUS

BUT THESE MAY PROVIDE ADDITIONAL

BARRIERS IN SOME OF THESE

DIFFERENT AREAS TO BE ABLE TO

ADVANCE THOSE IN THE NEAR

FUTURE. SO WHO ARE WE? THIS IS

TIM AND MILA AND MYSELF AND

JULIA WITH THAT FIRST CASE.

STARTING IN 2018. NOW YOU FAST

FORWARD FOUR YEARS AND YOU CAN

SEE RELATIVELY ZOOMED OUT MAP

THAT DEMONSTRATES, WE REPRESENT

A HUGE NUMBER OF ACADEMIC

MEDICAL CENTERS, COLLABORATORS,

INTERNATIONAL, NOT JUST

THROUGHOUT THE UNITED STATES BUT

ALSO IN EUROPE. AND LOOKING TO

EXPAND THIS FURTHER AND BE EVEN

MORE BROADLY COLLABORATIVE. THIS

IS WHAT OUR STEERING COMMITTEE

LOOKS LIKE AT THE MOMENT. I

WON'T GO THROUGH AND NAME EACH

INDIVIDUAL HERE WHO REPRESENTS

SOME ASPECT OF EXPERTISE BEING

BROUGHT TO THE TABLE FOR N OF 1

COLLABORATIVE. IT IS A MIXTURE

OF CLINICIANS WHO HAVE BEEN

INVOLVED IN N OF 1 TREATMENT

LIKE MYSELF, Ph.D. ET CETERA

AND BASIC SCIENTIST WHOSE ARE

DESIGNING ASOs, THOSE WITH FDA

EXPERIENCE PATIENT ADVOCATES,

REALLY A HOST OF DIFFERENT

INDIVIDUALS WHO ARE BRINGING A

VARIETY OF DIFFERENT BACKGROUNDS

AND EXPERTISE TO THE TABLE TO

HELP US TO BE ABLE TO ADVANCE

SAFELY AND RESPONSIBLY N OF 1

CLINICAL TRIALS FOR CLAIRE

DISEASES. -- RARE DISEASES. I

ALSO WANT TO NOTE THANKS TO NIH

FOR HOSTING THIS AND TO DON LO

AND BRIAN TRANYON AND AUDREY

THURM WHO STRONG ADVOCATES AND

EXPERTS PROVIDING US INSIGHTS.

WHAT IS OUR MISSION VISION AND

VALUES AS AN ORGANIZATION?

SIMPLY PUT, OUR MISSION IS TO

MAKE INDIVIDUALIZED GENETIC

MEDICINES SAFELY AND RAPIDLY

ACCESSIBLE TO PATIENTS

WORLDWIDE. THAT IS A PRETTY

SIMPLE STATEMENT, BUT A BOLD

MISSION AND CERTAINLY NOT SO

SIMPLE TO ACTUALIZE THE VISION

THAT SUPPORTS IS A FUTURE ARE

INDIVIDUALIZED MEDICINE CENTERS

AROUND THE WORLD ROUTINELY OFFER

PATIENTS CUSTOMIZE TREATMENTS

TARGETING CONDITIONS UNDERLYING

GENETIC CAUSE. THAT IS A

ROMANTIC BEAUTIFUL VISION THAT

TAKES A LOT OF WORK TO GET

THERE. SO IN ORDER THE ACHIEVE

THAT WE MUST PIONEER DRUG

DEVELOPMENT FOR INDIVIDUALIZED

PATIENTS, THROUGH TWO MAIN

AREAS, FOSTERING COLLABORATION

AND NURTURING THE FIELD. WHAT DO

WE MEAN BY FOSTERING

COLLABORATION, ESTABLISHING

COMMUNITY EXPECTATIONS AMONG THE

SCIENTIFIC MEDICAL AND PATIENT

COMMUNITIES. BEST PRACTICES,

SAFETY AND QUALITY STANDARDS AN

ENSURING CLINICAL TRIAL

READINESS FOR THE INDIVIDUALS

WHO MAY BE TREATED. HOW DO WE

NURTURE THE FIELD, PICKING THE

RIGHT CASE, PICKING CASE ACE

MENNABLE TO SUCCESS, PICKING

CASES WITH WHERE SAFETY IS GOING

TO BE MORE LIKELY. MINIMIZING

DUPLICATION OF PRE-CLINICAL AND

CLINICAL EFFORTS. THIS IS

IMPORTANT PARTICULARLY IN THE

FORM OF DATA SHARING. HOW DO WE

SHARE BOTH IN THE PRE-CLINICAL

AND CLINICAL SPACE SO WE HAVE

CROSS LEARNINGS AND SUPPORT CASE

CONFERENCES, SAFETY DATABASES,

CROSS REFERENCING VARIOUS INDs

SUBMITTED AND WORKING TOWARDS

HARMONIZING GLOBAL EFFORTS AT

VARIOUS STAGES. OUR VALUES ARE

AROUND SCIENTIFIC RIGOR, URGENCY

COMMENSURATE WITH THE NEED. AND

MULTI-STAKEHOLDER COLLABORATION.

THESE ARE REALLY THE PILLAR

WHICH IS WE THINK WE CAN ADVANCE

THESE -- THIS MISSION AND

VISION. STRUCTURALLY HOW DO WE

SUPPORT THIS? THE STEERING

COMMITTEE, BRIEFLY INTRODUCED

YOU TO, IS SUPPORTED BY NUMBER

OF WORKING GROUPS TRYING TO

ADVANCE THE VARIOUS STAGES THAT

REQUIRED TO MOVE FROM PATIENT

SELECTION ALL THE WAY TO

ACTUALLY TREATING A PATIENT. WE

BUCKETED THAT INTO THE PATIENT

SELECTION WORKING GROUP, SAFETY

AND TOXICITY CLINICAL OUTCOMES

AND ONE CAN THROW IN BIOMARKERS

ASSOCIATED WITH THAT.

INSTITUTIONAL IMPLEMENTATION,

WHICH IS ALL OF THE THINGS THAT

ARE NOT SEXY BUT CHALLENGING TO

GET THROUGH. AND THEN REALLY

IMPORTANTLY ETHICS AND EQUITY.

WITHIN EACH OF THESE, THIS IS

JUST A FLAVOR OF WHAT ARE SOME

OF THE TYPES OF WORK THAT THOSE

WORKING GROUPS ARE TRYING TO

ADVANCE. WHAT WOULD ALGORITHMS

LOOK LIKE FOR PATIENT SELECTION

THAT WOULD HELP TO ENSURE SAFETY

AND SUCCESS. CAN WE DEVELOP

CASE DOSSIERS TO BE ABLE TO

SUPPORT ADVANCEMENT AND

IDENTIFICATION OF PATIENTS CAN

WE CONNECT WITH NEXT GENERATION

SEQUENCING PIPELINES TO AGAIN BE

ABLE TO IDENTIFY PATIENTS IN A

MORE EQUITABLE FASHION BASED ON

SCIENTIFIC PRINCIPLES THAT ARE

BEING FURTHER ELUCIDATED AS WE

ADVANCE THIS WORK. AND THEN CAN

WE PROSPECTIVELY VALIDATE THAT

WORK TO SEE HOW WELL ARE WE

DOING AT TRYING TO SAFELY

EQUITABLY AND APPROPRIATELY

SELECT CASES. SAFETY AND

TOXICITY. REALLY THIS COMES DOWN

TO DATA SHARING EFFORTSK WE CAN

GET INTO THE NITTY-GRITTY

AGREEMENT TEMPLATES BUT ALSO

DATABASE INFRASTRUCTURE, HOW DO

WE MAKE SURE IF THE WE SEE

CERTAIN PROPERTIES AROUND WITH A

PARTICULAR DESIGN THAT CAUSES

MORE TOXICITY, THAT WE MAKE THAT

INFORMATION AVAILABLE SO OTHER

GROUPS TRYING TO DESIGN ASOs

CAN BENEFIT FROM THAT AND NOT

DUPLICATE THAT WORK LEADING TO A

BLIND ALLEY IN THE PROCESS.

CLINICAL OUTCOMES IS A

COMPLICATED AREA OF WORK FOR US

TO ADVANCE, RARE DISEASES

STRUGGLE WITH CLINICAL OUTCOME

MEASURES AS A WHOLE IN MANY

CASES AND THEN WE TAKE RARE

DISEASE TO THE ALTER N OF 1 AREA

THIS BECOMES MORE AN ISSUE. WE

WANT TO MAKE SURE OUTCOME

MEASURES ARE APPROPRIATELY

REPRESENTING BOTH SAFETY AND

EFFICACY TO THE EXTENT POSSIBLE

AND WOULD LIKE TO WORK TOWARDS

THINGS LIKE MEASUREMENT TOOL

KITS AND DATA SHARING PLATFORMS

TO ALLOW US TO UNDERSTAND AND

ASSESS ONGOING BASIS HOW WELL

VARIOUS MEASURES ARE WORKING AND

WHETHER THERE'S ADDITIONAL

REFINEMENT THAT MIGHT BE

NECESSARY AS WELL AS TO BRING

NEW MEASURES TO BEAR AS THEY ARE

DEVELOPED. INSTITUTIONAL

IMPLEMENTATION IS SORT OF ABOUT

RESOURCE SHARING. WHAT ARE THE

CHECKLISTS AND TEMPLATES THAT

MIGHT BE NECESSARY TO BE ABLE TO

GET AN N OF ONE STUDY UP AND

RUNNING AT A PARTICULAR

INSTITUTION. THEN FINALLY ETHICS

AND EQUITY AROUND CONVENING OPEN

DISCUSSION. AND SUPPORT BEST

PRACTICES. SO WE WANT TO BE ABLE

TO HAVE A FORUM TO RAISE ETHICAL

CONCERNS OR ISSUINGS THAT MAY

ARISE IN THIS NEW FRONTIER OF

MEDICINE. WE WANT TO BE ABLE TO

DERIVE FROM THOSE DISCUSSIONS

SOME RECOMMENDATIONS AROUND BEST

PRACTICES, AND HOW WE CAN

SUPPORT EQUITY ETHICAL

APPROPRIATENESS OF VARIOUS

RAPIDLY EVOLVING SCIENTIFIC

CASES, TO BEST SUPPORT ANY

PATIENT THAT IS IN A TRIAL OR

THAT MAY BE IN A TRIAL IN THE

FUTURE. UNDERPINNING TO THIS

WORK IS COLLABORATIVE

DISCUSSION, LEARNING AND DATA

SHARING. WE WANT TO BE

COMMITTED TO DISSEMINATION

THROUGH VARIOUS FORUMS, TO BE

ABLE TO MAKE SURE THAT THERE'S

OPEN ACCESS TO THE DATA AND

LEARNINGS THAT WE ALL ARE

CONTRIBUTING TO. WITH THAT, I

WOULD LIKE TO THANK THE NIH AND

NCATS ORGANIZERS FOR THE RARE

DISEASE DAY AND MOST OF ALL

THANK ALL OUR PATIENTS AND

FAMILIES WITH RARE DISEASES THAT

BRING MEANING TO THE WORK THAT

WE DO. AND I THINK FOR MANY OF

US, WHY WE ARE IN THE CAREERS

THAT WE ARE, FINALLY THE N 1C OR

N OF 1 COLLABORATIVE IS NOT AN

EXCLUSIVE CLUB, WE ARE AN OPEN

COLLABORATIVE CLUB BUILT INTO

THE NAME AND YOU ARE ALL

WELCOME, PLEASE REACH OUT TO US,

U EMAIL AT INFO@NOF1

COLLABORATIVE.ORG OR WEBSITE AND

THERE IS AN INTAKE TO HELP US BE

IN TOUCH WITH YOU AND HELP US

CONNECT AS WE,AND OUR

INITIATIVE. AND WANT TO

COMMUNICATE THE A BROADER

COMMUNITY. THANK YOU VERY MUCH.

WWW.N1COLLABORATIVE.ORG.

>> HI, GOOD AFTERNOON, IT IS MY

PLEASURE TO SPEAK TODAY AFTER

THE WONDERFUL TALKS YOU HAVE

ALREADY HAD SO FAR ABOUT THESE N

OF 1 PROCESSES. I WILL SHIFT A

TINY BIT TO THINK HOW WE MIGHT

DO N OF SMALL AND HOW WE MIGHT

THINK HOW WE BEST SUPPORT THE

OUTCOME MEASURES DR. DEMAREST

DISCUSSED SO DIFFICULT TO

UNDERSTAND. GOING TO TAKE THE

FRAMEWORK OF RAKE LIEU

CO-DYSTROPHIES. THAT WHAT I DO

AND I STUDY LEUKODYSTROPHIES

WITH THE CHILDREN'S HOSPITAL OF

PHILADELPHIA IN THE

LEUKODYSTROPHY CENTER OF

EXCELLENCE. WE DO RECEIVE

SUPPORT FOR DEVELOPING CLINICAL

TRIALS FROM A NUMBER OF

DIFFERENT FEDERAL AND

NON-FEDERAL AGENCIES AS WELL AS

WE COLLABORATE WITH OUR INDUSTRY

PARTNERS WITHOUT RECEIVING

PERSONAL COMPENSATION. I ALSO

WANT TO EXPLAIN THAT I THINK

MUCH LIKE DR. DEMAREST ALREADY

AND OTHERS ON THE TALK ALREADY

EMPHASIZED, IT IS SO IMPORTANT

IN THESE DIFFICULT AREAS OF THE

FOREFRONT TO THINK HOW WE CAN

BEST OPTIMIZE OUR PROCEDURES AND

OFTEN THAT MEANS THINKING

TOGETHER AS A GROUP. IN MY CASE

THAT INCLUDES A CLINICAL

ADVISORY BOARD FOR ONE SPECIFIC

LEUKODYSTROPHY CALLED HABC WITH

DR. LORI JEN JUSTINE SHALTS AND

MARVO KNAAP AS WELL AS WONDERFUL

SCIENTISTS ON OUR TIME, DR. SASE

AND DR. PATEL. I WILL TALK ABOUT

HOW WE APPROACH CLINICAL TRIAL

READINESS IN LEUKODYSTROPHIES.

WE NEED TO FILL THIS SPACE OF

RARE DISEASE AND NEED FOR BETTER

OUTCOME MEASURES, IN ORDER TO BE

READY FOR THE CLINICAL TRIALS

THAT ARE EMERGING BOTH IN

ANTISENSE THERAPY AND OTHER

APPROACHES AND WE WERE LUCKY

ENOUGH TO PARTNER WITH AND

RECEIVE FUNDING FROM THE RDCRN

AN NIH FUNDED RARE DISEASE

CONSORTIUM AND TO FUND THE

GLOBAL CLINICAL TRIAL NETWORK A

CONSORTIUM OF 8 US-BASED CENTERS

FOCUSED ON LEUKODYSTROPHIES.

SPECIFICALLY FOR THIS TALK I'M

GOING TO SHOWCASE A DISORDER

CALLED AHBC, OR LEUKODYSTROPHY.

YEARS AGO WE IDENTIFIED THE

CAUSE OF THE DISORDERS EARLY

2000s, WITH HYPOMILY NATION

WITH ATROPHY AT THE BASAL

GANGLIA AND CEREBELLUM. AND WE

REALIZE THESE CHILDREN FOLLOWED

A SOMEWHAT WE THOUGHT

PREDICTABLE COURSE OF HAVING

EARLY ONSET NORMAL MOTOR

MILESTONES AND THEN FOLLOWED BY

A LOSS OF MOTOR MILESTONES AND

SPEECH, CAUSED BY DYSTONIA AND

DISPLASTICITY. OVER TIME IT WAS

IDENTIFIED THAT THE SAME GENE

COULD CAUSE WITH DIFFERENT

MUTATIONS COULD CAUSE A ADULT

ONSET DIS DYSTONIA, EARLY

INFANTILE ENCEPHALOPATHY WITH

SEIZURE AND DEVELOPMENTAL DELAY

AND MILDER SYMPTOMS LIKE

PARAPLEGIA. WE ALSO RECOGNIZED

AND LOOKING AT CAUSES OF

LEUKODYSTROPHIES OVERALL TUBB 4A

IS THE SECOND MORE COMMON

LEUKODYSTRO DYSTROPHY SO WHILE A

RARE DISEASE WE ARE FACING A

REAL UNMET NEED TO HAVE THE

PATIENT POPULATION. SO THOSE

WHO NEVER HEARD OF TUBB 4A, IT

IS ONE OF NUMBER OF TUBE LYNN

ASSOCIATED PROTEINS, A DIMERIZES

WITH AN ALPHA TUBE LYNN AND

AGAIN EACH CELL MAKES NUMBER OF

DIFFERENT KINDS, IT IS ASSUMED

THAT THE MUTATIONS INVOLVED

CAUSE PROBLEMS WITH BOTH

DIMERIZATION OF ALPHA AND BETA

TUBE LYNN SUB UNIT AND THE

ASSEMBLY AND DISASSEMBLY OF

THOSE DIMERS INTO MICROTUBULES.

THEY ARE IMPORTANT FOR THE CELLS

ABILITY TO BOTH TRAFFIC

INFORMATION THROUGHOUT THE CELL

AND TO BUILD EXTENSIONS THAT THE

CELL MIGHT NEED AND YOU CAN

IMAGINE THOSE MIGHT BE

PARTICULARLY IMPORTANT TO BRAIN

CELLS. WE WERE ABLE AMONG

OTHERS TO MODEL THIS DISEASE IN

MICE AND WE WERE ABLE TO SHOW

THAT THE MOUSE HAS FEATURES OF

DISEASE THAT ARE SIMILAR TO THAT

SAME HUMANS, THEY HAVE ATROPHY

OF CEREBELLUM IN THE BOTTOM

RIGHT AND GREEN SLIDES WITH THE

RED MOUSE BEING MOUSE THAT IS

AFFECTED BY TUBB 4A AND DECREASE

MYELIN AS WE SEE IN THE PEOPLE

AFFECTED BY TAUPE RACE

LEUKODYSTRO DYSTROPHY AND MICE

HAD INCREASED SURVIVAL. WE HAVE

ALSO BEEN ABLE TO SHOW THAT IT

IS POSSIBLE TO CHANGE THE

OUTCOME OF THOSE MICE AND TO

ACTUALLY TREAT THEM WITH

ANTISENSE. SO WE ARE ABLE TO

SHOW THAT WE CAN REDUCE THE

MOTOR IMPAIRMENT, REDUCE

SURVIVAL, REDUCE OTHER

ASSOCIATED FEATURES SUCH AS

SEIZURE AND IMPROVE THINGS WE

CAN SEE UNDER MICROSCOPE LIKE

IMPROVED MILY NATION AND CHANGE

CEREBELLUM AFRO PHI. SO THAT

CAUSED US TO -- ATROPHY. THAT

CAUSED US TO THINK ABOUT HOW TO

DEVELOP CLINICAL TRIALS IN THIS

DISORDER. AND KNOWING THAT YOU

CAN POTENTIALLY DESIGN AN

ANTISENSE AND KNOWING THAT YOU

CAN POTENTIALLY REDUCE THE

DISEASE BURDEN FOR PATIENTS IS

OBVIOUSLY A HUGE MOTIVATING

FACTOR TO UNDERSTAND THE NATURAL

HISTORY ENOUGH TO PROVE THAT

THAT ACTUALLY CHANGES THE COURSE

OF THE DISEASE, AND EACH

DISORDERS HAS ITS OWN TEMPO AND

OWN PACE AND SOME DISORDERS THAT

ARE SEVERE ANDRAPHY ONSET, MIGHT

BE EASIER TO SHOW IF THERE IS

IMPROVEMENT BECAUSE YOU CAN IN

SHORT AMOUNT OF TIME SHOW

IMPROVEMENT. OTHER DISORDERS

LIKE HBC THAT FOLLOW LONGER MORE

PROTRACTED PERIOD OF TIME BEFORE

YOU HAVE SIGNIFICANT LOSS OF

MOTOR FUNCTIONS MIGHT REALLY BE

MORE DIFFICULT ESPECIALLY IF YOU

HAVE TO FURTHER DESIGN A NATURAL

HISTORY U DI THAT WOULD OVER

YEARS OF TIME ALLOW YOU TO

COLLECT ENOUGH DATA TO SHOW THAT

THE PACE OF CHANGE. SO WHILE THE

GOLD STANDARD APPROACH THAT'S

COMMONLY USED IN PREPARING FOR

CLINICAL TRIALS AND HAS BEEN

USED IN PAST DECADES IS BRINGING

PATIENTS IN A REGULAR BASIS

EVERY SIX MONTHS TO A YEAR AND

MEASURING THE OUTCOME YOU WANT

TO CAPTURE LIKE MOTOR FUNCTION,

REALLY THAT MIGHT TAKE A DECADE

TO FULLY UNDERSTAND FOR HABC

WHICH IS CLEARLY NOT VERY

ACCEPTABLE WHEN YOU HAVE A

THERAPEUTIC INTERVENTION TO

IMPLEMENT MORE QUICKLY. SO WE

APPROACHED NATURAL HISTORY

STUDIES IN A DIFFERENT WAY THAN

GOLD STANDARD AND THOUGHT ABOUT

CROSS SECTIONAL APPROACHES. SO

WE STARTED LOOKING AT USING

MEDICAL RECORDS AS SOURCE

DOCUMENTS TO VERIFY EVENTS

INCLUDING ONSET OF MOTOR

SYMPTOMS AND DEGREE AND SEVERITY

OF MOTOR SYMPTOMS. WE ALSO

STARTED THINKING ABOUT

COLLECTING FUNCTIONAL MEASURES

ACROSS MANY INDIVIDUALS TO

CREATE A BETTER LANDSCAPE OF THE

DISEASE TRAJECTORY IF NOT IN ONE

SAME PATIENT. WE HAVE BEEN

FOCUSING ON COLLECTING PATIENT

CAREGIVER REPORTED OUTCOMES AND

IN THE FUTURE WE HOPE TO ADDRESS

NOVEL WAYS OF COLLECTING

FUNCTIONAL MEASURES SUCH AS

REMOTE ASSESSMENT FOR WEARABLE

DEVICES. TO REDUCE THE BURDEN ON

FAMILIES OF HAVING TO TRAVEL TO

NATURAL HISTORY SITES. SO

IMPORTANTLY, WHEN WE STARTED

ASKING FAMILIES WHAT WERE THE

BIGGEST MOST IMPORTANT TARGET

SYMPTOMIOUS WILL SEE THAT SOME

OF THE MOTOR SYMPTOMS ARE THE

MOST PROFOUNDLY AFFECTED IN OUR

SUBJECTS WITH HABC. OTHER THINGS

WERE ALSO IMPORTANT WITHIN

COMMUNICATION OF DAILY LIVING

SKILLS BUT MOTOR SKILLS EMERGING

AS ONE OF THE MOST COMMONLY AND

FREQUENTLY IDENTIFIED DEFICITS

IN THIS KISS ORDER. DISORDER.

UNFORTUNATELY WHEN WE APPLIED TO

HABC STANDARD MOTOR ASSESSMENTS

THAT ARE USE MISDEMEANOR THE

CLINICAL SETTING AND RESEARCH

SETTING IN A LOT OF PLACES THAT

WERE DEVELOPED FOR THINGS LIKE

CEREBRAL PALSY, WE REALIZED THAT

A LOT OF PATIENTS HAVE A FLOOR

EFFECT. THIS IS A TEST CALLED

THE GFM 8, GROSS MOTOR FUNCTION

TEST 88 BECAUSE THERE'S 88 ITEMS

TESTED. A IS ONE RELATED TO

LYING AND DIMENSIONS B IS

RELATED TO MORE TO TO SITTING

AND ROLLING AND THEN DIMENSION D

AND E ARE RELATED TO AMBULATORY

SKILLS. YOU CAN SEE THAT AS SOON

AS THINGS GET HARDER AND FLOOR

MOBILITY, A LOT OF PATIENTS ARE

HAVING -- YOU SEE PATIENTS

COALESCE HERE BECAUSE THEY ARE

NO LOCKER ABLE TO DO TESTS. SO

-- LONGER ABLE TO DO THE TESTS

SO IT IS PROBLEMATIC TO USE A

TOOL THAT CAN MEASURE A FUNCTION

BECAUSE PATIENT IS BELOW LEVEL

OF FUNCTION OF THAT TOOL AND

PREVIOUSLY DEVELOPED MOTOR TOOLS

DON'T FULLY CAPTURE MOTOR

FUNCTION. AND YOU CAN'T JUST

TAKE MOTOR TOOLS DEVELOPED FOR

BABIES WHO MIGHT NOT HAVE THE

MOTOR FUNCTION OF AN OLDER CHILD

AND APPLY THOSE BECAUSE NOSE

MEASURES ARE BASED ON SIZE AND

HOW MUCH YOU CAN MANIPULATE THAT

BABY SO THERE WAS NO GREAT SPACE

FOR THOSE INDIVIDUAL PATIENTS AT

THAT LEVEL OF FUNCTION. SO WE

STARTED RETHINKING THINGS A

LITTLE BIT. AND ASSUMING WE HAVE

TO UNDERSTAND WHAT MILESTONES

PATIENTS WITH THIS DISORDER

ACHIEVED BEFORE WE CAN THINK

ABOUT WHICH TOOL WE MIGHT WANT

TO USE, AND WE SAW AS WE LOOKED

AT THINGS, IF YOU LOOK AT SORT

OF PATIENTS NOT ACHIEVING A

MILESTONE, ACHIEVING A MILESTONE

AND THEN ACHIEVING BUT LOSING

THE MILESTONE WE SAW AS WE WERE

EXPECTING BASED ON THE OUTCOME

OF THE THAT MANY OF OUR PATIENTS

ARE EITHER NOT ACHIEVING MORE

COMPLEX MOTOR SKILLS LIKE

WALKING WELL OR LOSING IT SUCH

THAT BY AGE OF TRYING TO MEASURE

CHILDREN AND CAPTURE THEM IN THE

THREE TO FOUR YEARS WHERE PEOPLE

ARE STARTING TO DEVELOP SYMPTOMS

WE WEREN'T GOING TO BE ABLE O

MEASURE A TEST FUNDAMENTALLY

BASED ON SIGNIFICANT GOOD MOTOR

FUNCTION. WE ALSO STARTED

THINKING WITHIN GROUP OF

PATIENTS BECAUSE WE DID SEE ON

THOSE EARLY TESTS THERE WERE

SOME WERE ABLE FUNCTION BUT ALSO

THINK ABOUT DIFFERENT COHORT OF

THE DISEASE. RECALL WHEN WE

FIRST IDE IF ID THE MUTATION WE

HAD IDENTIFIED ONE COMMON

MUTATION, WHICH SUBSTITUTES 249N

D 249D AND WE KNOW THOSE

PATIENTS ARE A COMMON RECRUITING

MUTATION BUT THERE'S OTHER

MUTATIONS. AND SOME PATIENTS

MUTATIONS DO VERY WELL AND SOME

PATIENTS WITH MUTATIONS HAVE

SIGNIFICANT MOTOR DYSFUNCTION

AND WE REMEMBER ABLE TO

DEMONSTRATE THAT -- WE WERE ABLE

TO DEMONSTRATE MORE THAN ONE

GROUP WITHIN THIS POPULATION

THAT PATIENTS WITH THE MUTATIONS

ARE LIKELY TO INITIALLY SEEM TO

DO WELL AND BE SIMILAR TO

PATIENTS WITHOUT THAT MUTATION

BUT WHO HAVE A LATER

PRESENTATION OVER 12 MONTHS AND

CONVERSELY A GROUP OF PATIENTS

PRESENTED EARLY LESS THAN 12

MONTHS WITH THAT MUTATION WHO

VERY OFTEN FAILED TO ACHIEVE

MEANINGFUL MILESTONES. SO THIS

IS ANOTHER WAY TO REPRESENT THAT

SAME INFORMATION, IF YOU TAKE

ALL THE DIFFERENT GENOTYPES YOU

SEE THE WARM COLORS ARE WHEN

MORE THAN 90% PATIENTS START --

75 OR 90% PATIENTS ACHIEVE THOSE

MILESTONES AND YOU CAN SEE THAT

AS THE MILESTONES GET MORE

DIFFICULT, GOING UP SIX STEPS,

THERE'S SMALLERS PERCENTAGE OF

PATIENTS WHO ACHIEVE THAT

MILESTONE BUT THERE IS IF YOU

ARE ABLE TO BREAK DOWN THE

GROUPS, PATIENTS WITH EARLY

ONSET WERE NOT CONSISTENTLY

ACHIEVING SKILLS LIKE ROLLING

OVER VERSUS THOSE WHO PRESENTED

LATER AND DID BETTER WITH MORE

CONSISTENT GAINING OF

COMPLICATED MILESTONES. WE KNOW

IN THOSE PATIENTS WHO ARE

MILDER, YOU HAVE PERCENTAGE OF

MILESTONES ACHIEVED BY

INDIVIDUAL, YOU SEE PATIENTS

MORE LIKELY TO ACHIEVE

MILESTONES, WITHIN THE NON---

PATIENT WITHOUT THAT COMMON YOU

ARE ALL OVER PLACE BUT IF YOU

LOOK AT THOSE MILDER PATIENTS,

UP HERE, I HOPE YOU CAN SEE MY

CURSOR LATER LOOK AT PRESENTED

MILESTONES LOST, THE D 24N

PATIENTS SIGNIFICANTLY LIKELY TO

LOSE THOSE MILESTONES. SO

OVERALL THAT GIVES A SENSE THEY

WERE THREE MAIN PHENOTYPES MILD

MODERATE AND SEVERE, A GROUP

THAT WE ARE NEVER GOING TO GAIN

SIGNIFICANT MILESTONES, SORT OF

STAYED DOWN HERE, A GROUP THAT

WE ARE GOING TO GAIN MILESTONES,

BUT THEN THAT WE WILL LOSE IN

WHICH THE PATIENTS WERE MORE

STRONGLY REPRESENTED AND THEN A

THIRD GROUP WHERE SYMPTOMS WERE

MILDER OVERALL. SO AS WE STARTED

TO THINK ABOUT OTHERS TYPES OF

MEASURES WE CAN USE THAT MIGHT

BE SIMPLER AND MORE EASILY ALLOW

US TO STRATIFY PATIENTS AND

FOLLOW OTHER OUTCOMES WE

BORROWED FROM ANOTHER

LEUKODISAVOW PHI MEDICAL

DYSTROPHY THAT USES AT ITS CORE

OUTCOME MEASURE, WE BORROWED A 6

POINT MOTOR OUTCOME THAT

INCLUDES ZERO WALKING WITH

NORMAL FOR AGE, ONE CHILD

AMBULATORY BUT DECREASE QUALITY

PERFORMANCE FOR AGE, TWO, CHILD

WHO NEEDS ASSISTIVE DEVICES

BECAUSE THEY CAN'T WALK MORE

THAN FIVE STEPS UNASSISTED, AND

THEN THREE AND FOUR PATIENTS WHO

MIGHT HAVE MOBILITY THROUGH

CRAWLING OR ROLLING AND/OR MIGHT

BE ABLE TO -- AND FIVE PATIENT

WHO ONLY RETAINS HEAD CONTROL

AND SIX PATIENT WHO LOST ALL

MOBILITY INCLUDING HEAD CONTROL.

SOFT YOU CAN SEE THAT WITHIN THE

PATIENTS EVEN WHO ARE THE

MILDEST, WHO START WITH A NEAR

NORMAL OR NORMAL MOTOR FUNCTION,

THERE'S OFTEN PROGRESSION OVER

TIME SO THERE IS A MEASURABLE

AMOUNT OF CHANGE, WITHIN

PATIENTS WHO INITIALLY START IN

AMBULATORY STAGE, THAT IS ALSO

TRUE FOR PATIENTS WHO START

MEETING, WALKING WITH SUPPORTED

WALKING. THEN WILL IS A GROUP OF

PATIENTS WHO EVEN IF THEY HAD

MORE SEVERE INVOLVEMENT LIKE

ONLY BEING ABLE TO SIT OR

CONTROL CAN BE SEEN TO PROGRESS

OVER TIME. SO WE START TO GET A

SENSE THERE MIGHT BE SIMPLER

WAYS TO ACTUALLY CAPTURE MOTOR

CHANGE. SO AS I EXPLAINED, WE

HAVE THREE DIFFERENT GROUPS THAT

ARE RELEVANT TO THIS DISEASE AND

LIKELY THAT THESE WILL NEED BOTH

NON-STANDARD MEASURES BECAUSE

THEY DEVELOP OTHER DISRDERS

LIKELY TO HAVE A FLOOR AFFECT

AND LIKELY TAYLOR OUTCOMES TO

SPECIFIC DISEASE GROUPS WITHIN

THIS RARE DISEASE. SO STUDY

POPULATIONS WILL NEED TO TAKE

CAREFUL INTO CONSIDERATION WHICH

GROUP HE IS PATIENTS PARTICIPATE

AND WILL LIKELY NEED TO DESIGN

TRIALS THAT INCLUDE EARLIER

MOTOR OUTCOMES TO TAKE INTO

ACCOUNT THE LONG LAG TIMES

DURING WHICH DISEASE CAN

DEVELOP. I HOPE THAT ILLUSTRATES

THE CHALLENGES AND ALTERNATIVE

APPROACHES TO DEFINING MOTOR

OUTCOMES FOR VERY RARE DISEASE

POPULATIONS AND HOPEFULLY THESE

TYPES OF OF APPROACH WILL BE

ABLE TO BE IMPLEMENTED IN

CLINICAL TRIALS AND BECOME MORE

GENERALIZED TO ALLOW ACCESS TO

CLINICAL TRIAL DESIGN FOR RARE

DISEASE. THANK YOU VERY MUCH.

>> THANKS FOR THE WONDERFUL

PRESENTATIONS. NOW WE'LL HAVE

OPEN DISCUSSION WITH QUESTIONS

FROM THE AUDIENCE. FIRST FOR YOU

SCOTT, THERE IS A LOT OF

INTEREST HOW ADDITIONAL DISEASES

MIGHT BE GET INTO THE ASO

CLINICAL TRIAL APPROACH. IF YOU

CAN PERHAPS EXPLAIN FIRST ABOUT

THE PARTICULAR KINDS OF DISEASES

AND THE PARTICULAR KINDS OF

MUTATIONS AMINE AMENABLE TO THIS

APPROACH AND PERHAPS YOU AND

ADELINE CAN TALK ABOUT THINKING

ABOUT THE FUTURE HOW TO GET MORE

PATIENTS INVOLVED IN THESE

CLINICAL TRIAL APPROACHES.

>> THANKS PJ. THAT IS A GREAT

QUESTION. SO STARTING A LITTLE

BIT WITH THE MECHANISMS THAT ARE

APPLICABLE AND HEN WE CAN TOUCH

ON STRUCTURAL SOCIETAL ISSUES

HOW TO GET ACCESS FOR MORE

PATIENTS. ASOs HAVE BEEN USED

FOR TWO PURPOSES OR TWO

MECHANISMS THUS FAR. I WILL SAY

NOVEL WAYS ARE BEING EXPLORED BY

LOTS OF GROUPS. THE FIRST IS TO

CHANGE SLICING. THAT MEANS WE

ARE IN SOME FORM OR FASHION

TRYING TO CHANGE THE PROCESSING

AT RNA STAGE. SO BART MENTIONED

DNA RNA PROTEIN AS BASIC TENANT

WE ARE DEALING WITH HERE. MORE

INFORMATION GETS TRANSITIONED

FROM DNA TO RNA THAN IS NEEDED

TO MAKE THE PROTEIN THERE IS A

PROCESS TO SPLICE OUT OR PULL

OUT SOME OF THAT INFORMATION AND

LEFT WITH THE MOST IMPORTANT

PART. THAT PART PROCESS CAN GO

AWRY SO ASOs HAVE BEEN USED TO

TRY TO CORRECT THAT AND GET THE

RIGHT SPLICING OR SKIP OVER AN

ERRONEOUS PART THROUGH SPLICING

PROCESSES. THE OTHER WAY ASOs

HAVE BEEN UTILIZED IS THROUGH

SOMETHING CALLED KNOCK DOWN.

BASICALLY IS A PROCESS WHICH YOU

CAN TAKE A GENE AT THE RNA STAGE

AND TELL THE CELL DON'T EXPRESS

THIS, DON'T TURN IT INTO

PROTEIN, BREAK DOWN THAT RNA AND

DON'T UTILIZE IT. THOSE ARE TWO

PRIMARY MECHANISMS UTILIZED THUS

FAR BUT THERE IS WORK BEING DONE

TO TRY TO COME UP WITH OTHER WAY

OF USING ASOs. IT IS A REAL

ISSUE HOW YOU GET MORE GROUPS

INTO THIS. THERE'S ONLY SO MANY

PEOPLE STUDYING THIS AND THERE'S

ONLY SO MUCH TIME IN THE DAY. I

THINK WE WANT TO BE CAREFUL

ABOUT HOW DO WE AGAIN PRIORITIZE

FOR SUCCESS. OUR N OF 1

COLLABORATIVE IS NOT A

REGULATORY BODY, WE ARE NOT

TELLING PEOPLE THEY CAN OR

CANNOT DO SOMETHING. JUST TRYING

TO HELP SUPPORT SUCCESSFUL

INITIATIVES AS MUCH AS WE CAN BY

SHOWING PEOPLE WHAT WORK, WHAT

HASN'T WORKED. THERE IS AN

INTERESTING QUESTION COULD WE BE

A LINKER BETWEEN PATIENTS OR

FAMILY ORGANIZATIONS OR GROUPS

DOING CERTAIN RESEARCH THAT IS

SOMETHING TO EXPLORE AS WE GO

FORWARD AS WELL.

>> ADELINE, WOULD YOU LIKE TO

COMMENT?

>> YES, I WOULD THIS IS A

PROBLEM, THIS NEED FOR SCALE AN

SCOPE IS A PROBLEM ACROSS A LOT

OF THERAPEUTIC ADVANCES IN

MOLECULAR MEDICINE, ASO OR GENE

THERAPY. THERE'S MORE RARE

DISEASE THAN THERE ARE

CLINICIANS AND SIGNTISES,

STUDYING THOSE RARE DISEASE AND

ABLE TO IMPLEMENT THOSE THINGS.

SO I THINK FOR THOSE THAT ARE

ADVOCACY GROUPS TO SUPPORT AND

PARTNER CAREER DEVELOPMENT OF

KEY INVESTIGATORS WHO MIGHT BE

JUNIOR AND WILLING TAKE ON RARE

DISEASE AND PARTNER WITH YOU TO

DEVELOP NOVEL UNDERSTANDING OF

THE DISEASE AND POTENTIALLY

FUTURE NOVEL THERAPIES, IT

WASN'T MY EXPECTATION AND MY

CAREER THAT I WOULD BE AT A

POINT WHERE IT IS NOT THE

FEASIBILITY AND POSSIBILITY OF

RARE DISEASE TREATMENT BUT IT IS

THE EXECUTABILITY OF THAT. LIKE

HOW DO YOU GET WORK DONE AND HOW

DO YOU FIND PEOPLE TO DO THAT

WORK. THERE IS INCREASING

PATTERNS AN PATHWAYS FOR THAT TO

HAPPEN BUT YOU STILL NEED THE

BOOTS ON THE GROUND TO GET IT

DONE. AS A LAST POINT THE

ADVOCACY PARTNERS CAN IMPROVE

THAT PROCESS, BY PARTNERING WITH

PEOPLE TO COLLECT NATURAL

HISTORY DATA AND THERE IS

INCREASING MODELS FOR THAT TO

HAPPEN AND WE COLLABORATE WITH

50 ADVOCACY GROUPS. SO I REALLY

THINK A LOT OF PARTNERSHIP AND

GROWTH BETWEEN ADVOCACY PARTNERS

AND SCIENTISTS AND CLINICIANS IS

IMPORTANT THE CARRYING THE

DREAMS TO FRUITION.

>> THAT IS A GREAT POINT.

INCREASINGLY NOW FOR SOME OF

THESE DISEASES, THE LIMITING

FACTOR IS NOT SO MUCH THE

SCIENTIFIC KNOWLEDGE DEVELOP

THERAPY IS THE PRACTICALITY OF

GETTING CLINICAL TRIALS STARTED.

QUESTION FOR MEHMET. YOUR

DAUGHTER HAS A SPLICING

MUTATION, IN THE A-T GENE. I

THINK YOU SAID YOU LEARNED ABOUT

THIS BECAUSE SOMEONE SENT A

PAPER SHOWING THEY COULD CORRECT

THIS WITH AN ASO. TRYING TO ASK

YOU TO STEP STEP BACK AND PUT

YOURSELF MANY THE POSITION OF

PARENTS WHO MIGHT BE WATCHING

THIS. TO WHAT EXTENT DID YOU

EVEN UNDERSTAND WHAT A SPLICING

MUTATION IS. AND HOW WOULD YOU

FIND OUT MORE ABOUT THAT, WAS

THAT SOMETHING YOU DISCUSSED

WITH YOUR DOCTOR?

>> YEAH. I DIDN'T -- I HAD SOME

BACKGROUND ON THIS TOPICS I GOT

BIOINFORMATICS SOURCES BEFORE SO

I HAD SOME UNDERSTANDING OF

THOSE THINGS ARE. SO I CAN SAY

IT IS LIKE -- IT IS NOT EASY TO

SUCH DERIVATIONS, MAY NEED TO

HAVE BACKGROUND INFORMATION. BUT

I THINK N OF 1 COLLABORATIVE,

PEOPLE THERE ARE MANY PEOPLE WHO

ARE EXPERTS ON THESE TOPICS. I

AM PRETTY SURE THAT PEOPLE WILL

BE -- WILL DIRECT TO THE RIGHT

PLACE. IN MY EXPERIENCE STARTED

THIS, PEOPLE FROM ALL OVER THE

PLACE UNDERSTANDING THEIR -- ARE

SENNING GENETIC REPORTS TO ME.

THEY ARE LIKE IS THIS AMENABLE

TO --

>> YEAH, THAT'S KIND OF WHAT I

WANTED TO GET AT. I'M NOT SURE

THAT'S THE BEST WAY FOR THIS TO

HAPPEN SO I GUESS I'M ASKING --

GO AHEAD.

>> ONE THING TO MENTION ABOUT

THIS, SO WE ARE -- THIS IS A

RARE DISEASE AND WE ARE NOT

EXPECTING TO -- WE DON'T THINK

THERE ARE OTHER PEOPLE WITH THE

SAME MUTATION BUT TURNS OUT TO

BE THERE ARE FIVE OTHER PATIENTS

WITH THE EXACT SAME MUTATION.

SO THE WAY WE FOUND, THEY SENT

THEIR GENETIC REPORTS OR YOU SEE

THEY ARE THE SAME. WE NEED LIKE

DATA SHARING PLATFORM WHERE

EXPERTS CAN INTERPRET THOSE

THINGS, MAYBE WITH SOME

INFORMATION,LIKE -- ALL PATIENTS

GENETIC REPORT AT END OF THE DAY

ON THEIR HANDS. THEY JUST DON'T

KNOW IF THIS IS AMENABLE TO

SOMETHING.

>> BACK TO SCOTT AND -- TO WHAT

EXTENT WHEN PATIENT GETS GENETIC

REPORT AND SEE WHAT THE DISEASE

IS, BUT ALSO SEE SOME

INFORMATION WRITTEN DOWN THERE

THAT YOU WOULD REALIZE MEANS

SPLICING MUTATION, IT IS A

DOMINANT MUTATION. MIGHT BE

AMENABLE TO AN ASO APPROACH. TO

WHAT EXTENT WHOSE JOB IS IT TO

EXPLAIN TO PATIENTS WHO GET

THOSE REPORTS WHAT THE POTENTIAL

APPLICABILITY AND ACTIONIBILITY

OF THAT INFORMATION IS.

>> I CAN TAKE FIRST STAB.

GENETIC REPORT SHOULD ALWAYS BE

DELIVERED WITH GENETIC COUNSELOR

AND CLINICAL EXPERT WITH

EXPERTISE IN GENETICS SO PEOPLE

IDEALLY SHOULD NEVER BE HANDED,

THE FIRST PERSON TO GO BACK TO

IS THE PERSON WHO GAVE YOU THAT

REPORT AND ASK THEM IF THEY

CANNOT HELP YOU EXPLAIN THAT TO

REFER TO GENETIC PROFESSIONAL

WHO CAN. THAT IS NUMBER ONE. IT

IS ALSO IMPORTANT TO UNDERSTAND

THE GENETIC COUNSELOR OR

GENETICIST WHO ORDERED THE TEST,

MAY NOT BE AVAILABLE DATA TO

KNOW THAT FOR SURE. SO SPLICE

SITE MUTATIONS ARE DIFFERENT

BECAUSE THEY ARE MAPPED BETTER

INTO THE GENOME. EVEN SEW WE

DON'T ALWAYS KNOW DEFINITIVELY

IF THERE IS A SPLICING ERROR

FROM A GENETIC REPORT. AND WE

ALSO DON'T KNOW IF THERE IS A

HETEROZYGOTE WHICH MEANS CHANGE

OF ONE GENE COPY, THAT DOESN'T

MEAN THAT THE CAUSE OF THE

DISEASE IS ACTUALLY GAIN OF

FUNCTION OR LOSS OF FUNCTION, IT

DOESN'T TELL YOU TOO MUCH OR TOO

LITTLE FUNCTIONAL PROTEIN OR

DYSFUNCTIONAL PROTEIN AS THE

CASE MAY BE. SO SOMETIMES THE

RIGHT ANSWER IF YOU UNDERSTAND

WHAT THERAPEUTIC APPROACH WOULD

BE POSSIBLE UNLESS LOTS IS KNOWN

ABOUT DISEASE ALREADY. AND

THERE'S OTHER SIMILAR GENETIC

CHANGES IS GO TO CELLS AND

FIGURE THAT OUT. THAT BECOMES A

POTENTIALLY SEVERAL YEAR LONG IN

THE LAB, AND GET BACK TO THE

QUESTION EARLIER HOW DO WE SCALE

AND MAKE IT FEASIBLE. THERE IS

NOT ALWAYS A GREAT ANSWER

DEPENDING HOW THE RARE DISEASE

IS, HOW IT IS DEFINED AND WHAT

WE KNOW ABOUT IT.

>> THANK YOU. SCOTT ANYTHING TO

ADD TONA?

>> TOTALLY AGREE. WE ARE

RELATIVELY EARLY IN IN ALL THIS,

THERE IS STILL A RELATIVELY

SMALL NUMBER OF PATIENTS TREATED

WITH N OF 1. A LARGER GROUP WITH

N OF SMALLS OR RARE DISEASE, IN

SMALL CLINICAL TRIALS. WE ARE

LEARNING MORE. I KNOW OF GROUPS

WORKING ON THINGS LIKE PATIENT

PORTALS PUTTING IN YOUR GENETIC

VARIANT AND SEE WHAT IS KNOWN

ABOUT THAT. ALL RIGHT. I CAN

IMAGINE A SITUATION WHERE AS OUR

KNOWLEDGE INCREASES, YOU CAN

HAVE SOMETHING THAT SAYS THIS

MAY OR MAY NOT AMENABLE TO

PARTICULAR TYPE OF TREATMENT,

WHO IS WORKING ON THIS, WHO IS

PERSON TO GET MANY TOUCH WITH TO

ADVANCE THINGS FOR YOUR GROUP OR

YOUR PATIENT. THAT TYPE OF

CONNECTIVITY IS INCREDIBLY

IMPORTANT RESOURCE WE DON'T HAVE

BUILT NOW BUT WHERE WE OUGHT TO

BE HEADED HAPPY TO BE SUPPORTER

IN THAT COLLABORATIVE.

>> YOU HIT ON IMPORTANT POINT

THERE AND PROBABLY GOOD ONE TO

END ON. SO I WANT TO THANK ALL

OF OUR SPEAKERS AND AUDIENCE FOR

THIS WONDERFUL PRESENTATION. NOW

WE ARE BE ON BREAK UNTIL 2:20.

SO THEN MEANTIME TAKE A LOOK AT

THE APP A AND THE OTHER EXHIBITS

ON THERE AROUND TAKE THE

OPPORTUNITY TO CONNECT WITH

OTHER FOLKS ON THE APP AND KEEP

THE CONVERSATION GOING. THANK

YOU.

>> HI, EVERYONE, WELCOME BACK TO

THE RARE DISEASE DAY AT NIH. I'M

PJ BROOKS, ACTING DIRECTOR OF

OFFICE OF RARE DISEASES

RESEARCH. HAPPY TO PRESENT

UPDATE ON OUR ACTIVITIES. FIRST

I WANT TO ACKNOWLEDGE THE GREAT

COLLEAGUES HERE IN THE RDR. IT

IS AN HONOR TO BE ACTING

DIRECTOR. OF COURSE I'M IN THIS

POSITION BECAUSE OF THE

DEPARTURE OF ANN PARISER FOR HER

WORK IN THE FEDERAL GOVERNMENT,

THANKS FOR HER 20 YEARS WORKING

IN RARE DISEASE PATIENTS IN THE

FEDERAL GOVERNMENT AT FDA AND

ORDR NCATS. CERTAINLY GOING TO

MISS HER, I CAN SAY FROM MY

PERSONAL PERSPECTIVE WORKING

UNDER ANN IS THE DEPUTY DIRECTOR

OF ORDR IS A GREAT JOB. WHAT

DOES MAKE ME HAPPY IS I'M SURE

ANN WILL BE CONTINUE TO BE

INVOLVED IN RARE DISEASE

RESEARCH IN ONE FORM OR THE

OTHER. AS WE GO FORWARD. THANK

YOU, ANN. SO WE HAVE A LOT OF

ACTIVITY GOING ON IN ORDR BUT I

HAVE TEN MINUTES SO NOT AGE TO

HIT ALL OF THEM. MY COLLEAGUES

ERIC AND AINSLIE WILL TALK THE

OTHER ACTIVITIES JUST AFTER I'M

FINISHED. ONE OF THE BIGGEST

THINGS THAT MOTIVATES OUR WORK

AND THAT WE KEEP IN MIND IS THE

GULF BETWEEN THE NUMBER OF KNOWN

-- DISEASE WITH KNOWN MOLECULAR

BASIS AN THOSE WITH AN EFFECTIVE

THERAPY. YOU ANTICIPATE AS WE

KNOW ABOUT MOLECULAR BASE OF

DISEASE WE DEVELOP THERAPIES BUT

IN FACT THERE'S A GREAT LAG

THERE, WE HAVE GOT ALMOST 7,000

MORE DISEASE WITH KNOWN

MOLECULAR BASIS AN ONLY A A FEW

HUNDRED WITH THERAPIES. IT IS

CLEAR AT THE RATE WE ARE GOING

IT WILL TAKE TOO LONG TO GET

TREATMENTS AND THERAPIES FOR ALL

THESE DISEASES SO YOU NEED TO

THINK OF THE WHOLE PROBLEM

FAIRLY RADICALLY DIFFERENT WAY.

INCREMENTAL SOLUTIONS I THINK

ARE NOT GOING TO CUT IT AT THIS

POINT. A LOT OF THINGS WE DO AT

ORDR NCATS AND COLLABORATORS,

ARE TRYING TO FIND WAYS OF DOING

THINGS, MANY DISEASES AT A TIME.

IN OTHER WORDS GETTING BEYOND

APPROACHES THAT ARE APPLICABLE

TO SINGLE DISEASES, AND LOOK AT

MORE THERAPEUTIC PLATFORM

APPROACHES THAT ARE BROADLY

APPLICABLE SO NOT HAVING TO

REPEAT EVERYTHING OVER AND OVER

AGAIN FOR 7,000 OR SO RARE

DISEASES. THIS SOMETHING THAT

WE HAVE BEEN DOING IN ORDR AND

NIH FOR A LONG TIME. WE ARE NOW

IN THE FOURTH ITERATION OF THE

RARE DISEASE CLINICAL RESEARCH

NETWORK AS YOU HEARD ABOUT. BUT

THE POINT I WANT TO MAKE HERE IS

EACH OF THESE CONSORTIA BY

DESIGN HAVE TO FOCUS ON AT LEAST

THREE OR MORE RELATED RARE

DISEASES. SO FOR MANY YEARS WE

WEREN'T THINKING ABOUT THIS IN A

COLLECTIVE WAY, THINKING ABOUT

SOLUTIONS THAT IMPACT MORE THAN

ONE DISEASE. SO IN TERMS OF

THERAPY, A LOT OF INTEREST WE

HAVE NOW IS FOCUS ON SHARED

MOLECULAR ETIOLOGIES OR SHARED

DISEASE CAUSES. MOLECULAR

ABNORMALITIES THAT UNDERLINE

MULTIPLE DISEASES. MULTIPLE

RARE DISEASES, SO WE CAN DEVELOP

THERAPEUTIC STRATEGIES BASED ON

THOSE. THIS IS A DIFFERENT WAY

OF THINKING THINGS BECAUSE

TRADITIONALLY DISEASES WERE

IDENTIFIED AND DIAGNOSED TREATED

BASED ON CLINICAL

MANIFESTATIONS. COLLECTION OF

CLINICAL MANIFESTATIONS IN THE

EARLY DAY OF MEDICINE AS WE

LEARN MORE ABOUT DISEASE,

GENETIC DISEASE, TURNS OUT

UNDERLYING THOSE THOUSANDS OF

RARE GENETIC DISEASES THERE IS

MUCH SMALLER NUMBER OF

UNDERLYING GENETIC CAUSES, SOME

LIVED HERE, PREMATURED TO CODONS

ABNORMAL PROTEIN FIELDING.

SPLICE SITE MUTATIONS THAT WE

HEARD THE LAST SESSION. AND WE

CALL SIGNALOPATHY WHICH IS ARE

ABNORMALITIES OF CELLULAR

SIGNALING PATHWAYS. THE GOOD

NEWS HERE IS THERE'S THERAPEUTIC

STRATEGIES THAT ADDRESS ALL OF

THESE SHARED MOLECULAR

ETIOLOGIES. GIVEN THAT THIS IS

THE CASE, WOULDN'T IT MAKE SENSE

WAS DESIGN CLINICAL TRIALS TO

GROUP THESE DISEASES AND

PATIENTS WITH THEM IN DIFFERENT

WAYS, NON-TRADITIONAL WAYS TO

CREATE LARGER PATIENT POOLS OR

CLINICAL TRIALS SO WE CAN GET

MORE RARE DISEASE PATIENTS IN TO

CLINICAL TRIALS OF RASH MALI

DEFINED DRUGS THAN IF WE DID

SIMPLY ONE DISEASE AT A TIME. WE

THINK OF THIS BASED ON THE

ACRONYM, SAME THERAPEUTICS BASED

ON SHARED MOLECULAR ETIOLOGY.

THERE IS A PRESENCE FOR DOING

THIS, AND IT COMES FROM

GENOMICALLY DRIVEN ONCOLOGY

BASKET TRIALS SO IN THE CANCER

FIELD SOME OF THE MOST EXCITING

WORK THAT HAS EXAMINE DOWN THE

PAST FEW YEARS IS IDENTIFY DRUGS

TA TARGET MOLECULAR

ABNORMALITIES THAT CUT ACROSS

MULTIPLE CANCER. SO INSTEAD OF

DEVELOPING A DRUG FOR COLON

CANCER, A DIFFERENT KIND OF

CANCER OR THYROID CANCER, YOU

SAY LET'S FORGET ABOUT THE

LOCATION OF THE BODY THE CANCER

IS IN AND SAY DEVELOP A DRUG

THAT HITS MOLECULAR PATHWAY THAT

HIT MULTIPLE TYPES OF CANCERS.

IT IS CALLED THE BASKET TRIAL

BECAUSE YOU PUT DIFFERENT

CANCERS OR PATIENTS WITH

DIFFERENT CANCERS IN A BASKET TO

DO THE CLINICAL TRIAL. THE

IMPORTANT THING HERE IS THAT

THIS APPROACH IS NOT ONLY

SUCCESSFUL BUT LED TO FDA

APPROVAL FOR A DRUG TO TREAT

THIS PARTICULAR CLASS OF CANCER,

THE DETAILS AREN'T IMPORTANT,

WHAT IS IMPORTANT IS THE

APPROACH GROUPING PATIENTS BY

MOLECULAR ABNORMALITY RATHER

THAN PHENOTYPIC THE WAY THE

DISEASE PRESENTS IT SEEMS

OBVIOUS THAT YOU CAN BE ABLE TO

DO THIS FOR RARE DISEASE AS

WELL. SO WE HAVE TO HAVE A

FUNDING OPPORTUNITY NOW IT IS

CLOSED, WE HAVE TWO ONGOING

PROJECTS THAT ARE DEVELOPING

BASKET CLINICAL TRIALS DRUGGED

TARGETING SHARED MOLECULAR

ETIOLOGIES AND RARE DISEASE, TWO

ARE LISTED HERE. YOU CAN SEE

THE SECOND ONE, IT IS ALMOST

REDEFINING OF DISEASE BASE ON

MOLECULAR ABNORMALITY, THESE ARE

THINGS THAT WOULD BE VALUABLE

GOING FORWARD A BIG ASPECT IS TO

GO FORWARD TO FDA WITH PLANS FOR

SUPPORTING THESE BASKET TRIALS

WORKING WITH THEM IDENTIFY A

THERAPEUTIC PATHWAY. BASED ON

RESIDENT THE ONCOLOGY BASKET

TRIALS. WE HAVE TAKEN THIS

APPROACH EVEN FURTHER OR ARE

TAKING IT FURTHER, AS MANY OF

YOU MAY KNOW, THAT WE AT NCATS

AND INDEED SEVERAL NIH

INSTITUTES AND CENTERS ARE PART

OF THE INTERNATIONAL RARE

DISEASES RESEARCH CONSORTIUM OR

RDRC. THAT'S WORKING WITH RARE

DISEASE REPRESENTATIVES AND

STAKEHOLDERS ALL OVER THE WORLD

ON TOPICS OF BROAD INTEREST AND

WITHIN THAT GROUP WE DEVELOP A

WORKING GROUP THAT FOCUSES

SPECIFICALLY ON SHARED MOLECULAR

ETIOLOGIES UNDERLYING MULTIPLE

RARE DISEASES. SO WE CAN EXPLORE

HOW WE CAN MOVE FORWARD WITH

THIS NOT JUST WITHIN THE UNITED

STATES BUT INDEED ALL OVER WORLD

BECAUSE AS WE KNOW RARE DISEASES

AFFECT PATIENTS ALL OVER WORLD.

THAT MAY BE ANOTHER WAY TO GET

MORE PATIENTS INTO THESE

CLINICAL TRIALS. SO THINKING

MORE GENERALLY ABOUT THIS, A LOT

OF THAT DISEASES ARE MONOGENIC

DISEASES. SINGLE GENE DISORDERS

THAT RESULT FROM INACTIVATING

MUTATIONS IN A SINGLE GENE AND

WAY TO TREAT THEM IN PRINCIPLE

IS BY GENE THERAPY WHICH IS TO

DELIVER A WORKING COPY OF THAT

THERAPEUTIC GENE INTO RELEVANT

CELLS OF TISSUES OF THE PATIENT.

FOR THIS, DEVELOPING THERAPEUTIC

PLATFORM IS BASED ON

ADENOASSOCIATED VIRUS OR AAV.

WHICH IS A SIMPLE SMALL VIRUS

THAT INFECT MANY OF US HAVE BEEN

EXPOSED TO THAT BY ITSELF

DOESN'T CAUSE ANY HUMAN DISEASE.

SO DO AN AAV GENE THERAPY IS

TAKE VIRAL GENES OUT AND PUT

THERAPEUTIC HUMAN GENES IN,

THAT'S HOW YOU DEVELOP THERAPIES

FOR INDIVIDUAL DISEASES. SO YOU

CAN SEE THIS KIND OF PLATFORM.

ANOTHER WAY WE LIKE TO THINK

ABOUT AAV IS THAT IT IS SORTS OF

LIKE A DELIVERY BOX FOR

THERAPEUTIC GENES BUT A BOX THAT

IS DIFFERENT, DIFFERENT FLAVORS

ARE ESSENTIALLY PRE-ADDRESSED TO

GO TO SPECIFIC CELLS AN TISSUES.

OR PARTICULAR CELLS AN TISSUES.

THEY DON'T NECESSARILY HAVE TO

BE ONE, IN SOME CASES MORE THAN

ONE. SO PARTICULAR DELIVERY BOX

COULD BE USED FOR DISEASES THAT

AFFECT SAY THE MUSCLE AND THE

LIVER. IN PRINCIPLE TO BE USED

TO TREAT MULTIPLE DISEASES SOME

WHICH AFFECT THE MUSCLE AND SOME

AFFECT THE LIVER. THIS WOULD BE

A DIFFERENT WAY OF THINKING

ABOUT CLINICAL TRIALS ONE

DISEASE AT A TIME. SO BASED ON

THIS, WE HAVE DEVELOPED THE

PLATFORM VECTOR GENE GENE GENE

GENE THERAPIES WORKING WITH

COLLEAGUES WITHIN ORDR AS WELL

AS NHGRI AND NINDS. WE THINK OF

THIS AS A PUBLIC PLATFORM VECTOR

GENE THERAPY TRIAL MOVING

FORWARD WITH GENE THERAPY FOR

FOUR GENETIC DISEASES USINGS THE

SAME AAV VECTOR, THE ONE WE ARE

USING IS, AAV 9 AND SAME ROUTE

OF ADMINISTRATION. IMPORTANTLY

THE SAME PRODUCTION PURIFICATION

METHOD SO EVERYTHING THE SAME

EXCEPT CHANGE THERAPEUTIC

INFORMATION WITHIN THE AAV GENE

THERAPY. SO REALLY EXPLORE HOW

MUCH WE CAN MAKE INCREASE

EFFICIENCY OF THE CLINICAL

TRIALS STARTUP PROCESS. BY USING

THIS PLATFORM EXPLICIT FROM THE

VERY BEGINNING. I THINK A KEY

PART OF WHAT WE ARE DOING HERE

THAT MAKES A UNIQUE EFFORT IS WE

PLAN TO MAKE PROJECT RESULTS

INCLUDING COMMUNICATION TO FDA

PUBLICLY AVAILABLE. SO OTHERS

CAN SEE HOW WE ARE TRYING TO

DEVELOP OUTLINE THESE MORE

EFFICIENT REGULATORY PATHWAY AND

INDEED USE SOME OF THE DOCUMENTS

FOR OTHER DISEASES WHEN THEY GO

TO THE FDA WITH THEIR GENE

THERAPY PROPOSALS. PROGRESS ON

THIS IS IDENTIFYING LEAD

CANDIDATE, HPCCA, WHICH IS TO

TREAT A RARE METABOLIC DISEASE

APPROPRIATE FREIONIC ACIDEMIA.

WORKING WITH CHUCK FROM NHGRI.

WE RECEIVED FDA ORPHAN DRUG

DESIGNATION IN OCTOBER OF 2021.

WE ARE IN THE PROCESS OF WRITING

PAPER AND MAKING THAT

DESIGNATION SUBMISSION DOCUMENTS

PUBLIC AND PROCESS. WE HAVE HAD

AN INTERACT MEETING WITH THE FDA

CBER IN JULY AND PLAN TO MAKE

DOCUMENTS AND OUTCOMES FROM THAT

PUBLIC AS WELL. AND I WILL

CONTINUE TO PROGRESS WITH OTHER

ASPECTS OF THE PAGT PROGRAM AND

YOU CAN FOLLOW ALL THE PROGRESS

ON THAT AT THIS WEBSITE SHOWN

HERE. SOMEWHAT RELATED EFFORT

THAT IS ONGOING AT LEAST RELATED

TERMS OF GENERAL GOAL OF

INCREASING EFFICIENCY OF AAV

GENE THERAPY, IS CALLED THE B

SPOKE GENE THERAPY CONSORTIUM,

THAT DR. TABAK AND DR. RUTTER

REFERRED TO EARLIER, THE BGTC,

THIS IS AN ORGANIZED BY

FOUNDATION FOR THE NIH. IT IS A

PUBLIC PRIVATE PARTNERSHIP

INVOLVING MULTIPLE NIH

INSTITUTES AND CENTERS. AS WELL

AS PHARMACEUTICAL COMPANY

PARTNERS AND NON-PROFIT

ENTITIES. THERE ARE TWO

COMPONENTS OF BGTC. ONE FOCUSED

ON STUDYING BASIC BIOLOGY OF

AAV, SO AS TO BE ABLE TO

INCREASE THE EFFICIENCY OF

PRODUCING GENE THERAPY VECTORS,

FOR CLINICAL USE AND HOPEFULLY

ENHANCING THERAPEUTIC IMPACT OF

AAV GENE THERAPY, ALL WHICH ARE

DESIGNED TO MAKE THE WHOLE

PROCESS EASY FASTER AND MORE

EFFICIENT. THERE IS A LARGE

CLINICAL COMPONENT TO THE BGTC

THAT IS FOCUSED ON ADVANCING AAV

TECHNOLOGIES AND VECTORS FOR

CLINICAL APPLICATION. SO FOR

THIS WE PLAN TO IDENTIFY BETWEEN

THREE AND SIX DISEASES TO MOVE

FORWARD IN A PARALLEL FASHION

WITH THE IDEA OF STREAMLINING

AND HARMONIZING THINGS LIKE

MANUFACTURING THERAPEUTIC AND

THE WAY WE ASSAY THE THERAPEUTIC

MADE, ANALYTICAL TESTS USED, THE

TOXICOLOGY PACKAGE THAT IS DONE.

THE GOAL, THE GOAL OF ALL OF IT

IS TO STREAMLINE EGGLATORY

PATHWAY AND INCREASE EFFICIENCY

OF GETTING THESE THERAPIES INTO

PATIENTS. IMPORTANTLY THE FOCUS

OF THE B SPOKE GENE THERAPY

CONSORTIUM IS ON DISEASE OF NO

COMMERCIAL INTEREST DUE TO LOW

PREVALENCE. THAT IS HOW WE ARE

ABLE TO DESIGN THIS PROGRAM AND

MAKE IT INTO THE PRE-COMPETITIVE

SPACE AND HAVE THE PARTICIPATION

OF DIFFERENT PHARMACEUTICAL

COMPANIES THAT ARE VALUABLE TO

THIS EFFORT. YOU CAN FOLLOW

ALONG WITH THE PROGRESS AT THE

WEBSITE SHOWN BELOW. OF COURSE

FOR SINGLE GENE DISORDERS, AT

LEAST IN EARLY ON BUT PERHAPS

FOR MORE COMMON DISORDERS, ALSO

BUT PARTICULARLY FOR SINGLE GENE

DISORDERS, A REAL PLATFORM

THERAPEUTIC STRATEGY WOULD BE TO

USE ENZYMES THAT ARE GOING TO

THE CELL AND CORRECT THE DNA

ABNORMALITIES IN INDIVIDUAL

CELLS. SO RATHER THAN PUTTING IN

AN ACTIVE COPY OF MISSING GENE

ACTUALLY GO IN AND CORRECT THE

GENE ITSELF, THIS CAN BE DONE

SHOWN MULTIPLE TIMES USING

PROCESS OF GENE EDITING.

CRISPER CAS 9 IS THE MOST

FAMILIAR FORM BUT THERE'S OTHER

WAYS TO DO GENOME EDITING. YOU

HEARD LAST YEAR THE TALK

JENNIFER DOWD WHO WON THE NOBEL

PRIZE FOR IDENTIFYING THE

CRISPER CAS 9 SYSTEM. BASED ON

THE NIH COMMON FUND DECIDED TO

SET UP A NEW PROGRAM ON SOMATIC

CELL GENOME EDITING. TO REALLY

DEVELOP TOOLS AND TECHNOLOGIES

TO SPEED THE PROGRESS OF GENOME

EDITING TO CLINIC. AND WE HAVE

BEEN PRIVILEGED AT NIH NCATS TO

BE ONE OF THE LEADERS AND

COORDINATORS OF THE PROGRAM

WORKING WITH NINDS AND MANY OF

OUR OTHER NIH COLLEAGUES. AND

ONE OF THE MANY DISCOVERIES AND

PUBLICATIONS THAT CAME OUT OF

THIS IS WORK BY DAVID LU WHOSE

GROUP DEVELOPED PRIME EDITING.

THE PRIME EDITOR ENZYME IS A

GENOME EDITOR ENZYME THAT WHEN

IT GOES INTO CELLS CAN CORRECT

DIFFERENT KINDS OF MUTATIONS

ANDS DESIGNED IN A WAY THAT

COULD IN PRINCIPLE SINGLE EDITOR

ENZYME CORRECT ALMOST 90% OF

HUMAN DISEASE CAUSING MUTATIONS

SO VERY CLEARLY A THERAPEUTIC

PLATFORM P ONE THAT HAS BROAD

IMPLICATIONS FOR MONOGENIC

DISEASES AND IN THE FUTURE MORE

COMMON DISEASE AS WELL. AS WE

THINK ABOUT THE NEXT PHASE OF

THE COMMON FUND PROGRAM WE

PROPOSE THE SECONDS PHASE SHOWN

UP HERE, SEEG PHASE 2 PRESENTED

THE NIH COUNCIL OF COUNCILS AND

APPROVED SO WE ARE PLANNING TO

GO WITH PHASE 2. THE SCEG

PROGRAM, I WANT TO MENTION HERE

BECAUSE ONE OF THE COMPONENTS OF

THIS PROGRAM THAT WE ARE

PROPOSING ARE TO SUPPORT

CLINICAL TRIALS THAT WILL

REQUIRE DOING MORE THAN ONE

DISEASE AT A TIME. SO REALLY TO

DEVELOP GENOME EDITING PERHAPS

USING THE PRIME EDITOR OTHER

TYPES OF SECOND GENERATION

GENOME EDITORS, DEVELOP

THERAPEUTIC PLATFORM AS OPPOSED

TO ONE DISEASE AT A TIME METHOD.

BECAUSE WE THINK THAT IS WHERE

WE CAN HAVE GREATEST IMPACT. WE

ARE NOT QUITE THERE YET IN TERMS

OF OFFICIALLY LAUNCHING THE

PROGRAM BUT WATCH THIS SPACE FOR

FUTURE DEVELOPMENTS HERE.

FINALLY AS WE START THINKING

ABOUT THESE NEW THERAPEUTICSIC

APPROACHES SUCH AS GENE TARGET

THERAPY, OF THE KIND I HAVE BEEN

TALKING ABOUT THAT AREN'T

TREATMENTS FOR SPECIFIC DISEASES

BUT THEY ARE BROAD THERAPEUTIC

PLATFORMS. THAT CAN PRINCIPLE

TREAT MANY DISEASES. THAT HAS

IMPLICATIONS NOT JUST FOR

CERTAIN CLINICAL TRIALS, BUT

EVEN MORE BROADLY MANY TERMS OF

THINGS LIKE DIAGNOSING DISEASE.

MORE GENERALLY TO OUR SYSTEM BUT

WHAT WE THINK A DISEASE IS.

RETURN AS IMPLICATIONS FOR

IDENTIFYING ALL THE PATIENTS WHO

MIGHT BENEFIT FROM GENE TARGETED

THERAPIES BECAUSE AGAIN, IT IS

MORE THAN A SUBSET OF DISEASES.

SO IT IS REALLY GOING TO HARKEN

A DIFFERENT WAY OF THINKING

ABOUT WHAT IS A DISEASE, HOW DO

WE IDENTIFY PATIENTS WITH THE

DISEASE AND GET THEM INTO

CLINICAL TRIALS. QUITE DIFFERENT

WAY OF THINKING WE DO CURRENTLY.

SO BACK IN THE SUMMER WE HELD A

MEETING ON TOPIC OF GENE TARGET

THERAPIES. THAT EXPLORED

STRATEGIES FOR DIAGNOSING ALL

PARENTS WHO MIGHT BENEFIT FROM

GENE TARGET THERAPIES INCLUDING

NEWBORN SCREENING AND WHOLE

GENOME SEQUENCING AND

IMPLICATIONS OF THOSE. I

ENCOURAGE YOU TO LOOK AT THAT,

STILL AVAILABLE ON THE NIH

WEBCAST SITE AND WORKING ON

WHITE PAPERS AND PUBLICATIONS.

THE IMPLICATIONS OF THIS OF

COURSE GO FAR BEYOND WHAT THE

NIH CAN DO, OUR ROLE HERE IS

REALLY TO CONVENE DIFFERENT

STAKEHOLDERS AND BEGIN A

CONVERSATION THAT MIGHT

ULTIMATELY CHANGE THESE BROADER

ISSUES. SO WITH THAT, I'M GOING

TO STOP AND HAND IT OVER TO MY

COLLEAGUE AINSLIE TINSDALE WHO

WILL START THE NEXT SESSION WITH

A PARTICULAR FOCUS ON SOMETHING

WE HAVE BEEN THINKING ABOUT ALSO

IN RARE DISEASE SPACE OVER THE

PAST YEAR, NOT JUST US BUT

OTHERS WHICH IS COST OF RARE

DISEASES ON OUR MEDICAL SYSTEM.

>> THANKS, PJ, HELLO. I HAVE

HOPE YOU HAVE BEEN ENJOYING RARE

DISEASE DAY AT NIH SO FAR. I'M

GOING TO SHIRR ABOUT THE IDEAS

INITIATIVE AT NCATS AND MORE

SPECIFICALLY ABOUT PILOT STUDY

THAT WAS PUBLISHED A FEW MONTHS

AGO. IDEA STANDS FOR IMPACT

RARE DISEASES ON PATIENTS AND

HEALTHCARE SYSTEMS. THE PILOT

STUDY WAS OUR FIRST

COLLABORATIVE EFFORT OF THIS

LARGER SCALED INITIATIVE. THE

IDEAS PILOT STUDY WAS A

COLLABORATION AMONG NCATS OREGON

HEALTH AND SCIENCE UNIVERSITY,

UNIVERSITY OF COLORADO, SANFORD

HEALTH AND LIFE SCIENCES WITH

THE OVERARCHING GOAL OF

QUANTIFYING AND QUALIFYING THE

DISEASE BURDEN OF RARE DISEASES.

THIS IS A SCREEN CAPTURE OF THE

PAPER PUBLISHED IN IF OCTOBER IN

ORTHO NET JOURNAL OF RARE

DISEASES. THERE ARE

COLLABORATION WE UTILIZE FOUR

HEALTHCARE SYSTEMS REPRESENTING

DIFFERENT GEOGRAPHIC AREAS

INSURANCE TYPES AND GENERAL

PATIENT POPULATIONS. THESE

SYSTEMS WERE CARRIED TO IDENTIFY

PATIENT COHORT FOR DIVERSE SET

OF 14 RARE DISEASES THAT VARIED

IN TERMS OF TYPICAL AGE OF

ONSET, SYSTEMS AFFECT AND

EXPECTED PREVALENCE. THEN FOR

THE COHORTS IDENTIFIED, DIRECT

MEDICAL COSTS WERE ESTIMATED

USING THE DATABASES BILLING

RECORDS AND FINALLY THE

DIAGNOSTIC ODYSSEY WAS

QUANTIFIED AND DESCRIBED FOR

PATIENTS ELIMINATING NATURAL

HISTORY. THE KEY FINDINGS FOR

THIS STUDY, ARE THAT FIRST, IT

IS DIFFICULT TO FIND RARE

DISEASE PATIENTS WITHIN

HEALTHCARE SYSTEMS. SINCE THE MA

JOE -- MAJORITY LACK A SPECIFIC

DIAGNOSTIC CODE. WE FOUND ON

AVERAGE THE 14 PILOT RARE

DISEASES SHOWED HIGHER

PREVALENCE RATES THAN PREVIOUSLY

SEEN IN THE MEDICAL LITERATURE

ACROSS THE FOUR HEALTHCARE

SYSTEMS. THIS MEANS THE OFTEN

CITED PREVALENCE NUMBERS ARE

MOST LIKELY UNDERESTIMATIONS OF

TRUE RARE DISEASE POPULATIONS.

SECOND DIRECT MEDICAL COSTS OF

RARE DISEASES ARE VERY HIGH.

THREE TO FIVE TIMES HIGHER THAN

NON-RARE PATIENTS. IF WE

EXTRAPOLATE DIRECT MEDICAL COST

ESTIMATEDDED IN THIS STUDY TO BE

APPROXIMATELY 25 TO 30 MILLION

RARE DISEASE PATIENTS IN THE

UNITED STATES THE COST OF THE

HEALTHCARE SYSTEM IS $400

BILLION A YEAR. THIRD, THE

DIAGNOSTIC ODYSSEY IS REAL AND

PROLONGED. RESULTING IN

IRREVERSIBLE COMPLICATIONS OF

DISEASE AND ONGOING HIGH COST OF

CARE. AS ILLUSTRATED IN THE

PILOT STUDY DIAGNOSTIC JOURNEY

MAPS IN TWO HIGH COST CYSTIC

FIBROSIS PATIENTS SHOWED THE

DRASTIC DIFFERENCE THAT EARLY

DIAGNOSIS AND TREATMENT CAN

MAKE. WITH THE EARLY DIAGNOSED

TREATED CF PATIENT COSTING THE

HEALTHCARE SYSTEM ALMOST 50%

LESS THAN DELAYED DIAGNOSE AND

UNTREATED PATIENT. THESE RESULTS

SUGGEST THE NEED FOR MACHINE

ASSISTED STRATEGIES TO DIAGNOSE

AND TREAT PATIENTS SOONER. THESE

STRATEGIES ARE FEASIBLE AND THAT

IS WHAT WE ARE EXPLORING NEXT.

IF THERE IS ONE TAKE AWAY FROM

THIS STUDY, IT IS THAT RARE

DISEASES ARE COMMON COSTLY AND

ACTIONABLE. WITH THE FUTURE

DEVELOPMENT AND INCORPORATION OF

MACHINE LEARNING TOOLS WE MAY BE

ABLE TO GET TREATMENT TO MORE

PATIENTS MORE QUICKLY. DISEASE

MODIFYING TREATMENTS COULD NOT

ONLY IMPACT THE DEVASTATING

PROGRESSION OF DISEASE AND

PROLONGED HIGH COST OF CARE, BUT

ALSO PRESERVE QUALITY OF LIFE

AND PRODUCTIVITY BENEFITING NOT

JUST THE PATIENTS BUT SOCIETY AS

A WHOLE TO OUR RARE DISEASE

PATIENTS ADVOCATES AND

CAREGIVERS LISTENING TODAY, WE

SEE YOU, WE HEAR YOU. WE HOPE

OUR INITIATIVES SHINE A LIGHT ON

THE BURDENS FACED BY YOUR

COMMUNITY, IN THE DOWNSTREAM

MATERIAL BENEFITS THAT COME FROM

ACCURATE DIAGNOSIS AND IMPROVED

CARE. IF YOU ARE INTERESTED IN

LEARNING MORE ABOUT PIE WILL THE

STUDY OR OTHER EFFORTS THAT

FALLS UNDER THE IDEAS INITIATIVE

I ENCOURAGE YOU THE CHECK OUT

IDEAS EXHIBIT ON THE RARE

DISEASE DAY EVENT APP WHERE YOU

CAN FINE LINK TO THE PAPER AND I

OR MY COLLEAGUE CHRISTINE

PATELLA WILL BE HAPPY TO ANSWER

ANY OF YOUR QUESTIONS. THANK

YOU.

>> HI, GOOD AFTERNOON. I'M ANNIE

KENNEDY, CHIEF OF POLICY

ADVOCACY PATIENT ENGAGEMENT AT

THE FOUNDATION FOR RARE DISEASES

AND I'M SO GRATEFUL TO NIH FOR

INCLUDING ME HERE TODAY AND

HAPPY RARE DISEASE WEEK

EVERYBODY. SO I'M DELIGHTED TO

TALK ABOUT OUR NATIONAL ECONOMIC

BURDEN OF RARE DISEASE STUDY,

THAT WE CAN CONDUCTED ALONG WITH

THE BROAD RARE DISEASE

COMMUNITY. AND PROBABLY MANY OF

YOU WHO ARE HERE TODAY. AND I

LOVE TO PUT THIS IN CONTEXT

BECAUSE I KNOW WE ARE HEARING

ABOUT THE DATA THAT WAS

COLLECTED NOT JUST BY OUR BROAD

COMMUNITY BUT ALSO BY OUR

PARTNERS AT NIH. AND RECENTLY WE

PARTNERED WITH NIH AND SOME

OTHERS WHO KNIT TOGETHER

FINDINGS FROM NUMBER OF STUDIES

SO IT IS REALLY IMPORTANT FOR US

TO UNDERSTAND WHY DOES ALL THIS

MATTER ANYWAY. SO WE COLLECT

THIS DATA FOR NUMBER OF REASONS,

AND MOST OF US HERE IN THIS ROOM

AND WATCHING TODAY HAVE BEEN

PART OF THIS MOVEMENT CALLED

PATIENT FOCUSED DRUG DEVELOPMENT

WHICH IN OTHER WORDS MEANS WE

NEED TO ASSURE THAT OUR LIVED

EXPERIENCE AS MEMBERS OF THE

RARE DISEASE COMMUNITY, MATTERS.

THAT IT IS PART OF INFORMING

CLINICAL TRIAL DESIGN, COLLECTED

IN REGISTRIES, IN FORMING

REGULATORY DECISIONS, AS WE KNOW

MUCH MUCH OF THIS WORK HAPPEN

WITH F PDUFA 5 AND PDUFA 6 AND

NOW 7 RE-AUTHORIZATION OF

PRESCRIPTION DRUG USER FEE AND

THOSE DISCUSSIONS UNDERSTAND

THAT THE WAY THAT PATIENT

EXPERIENCE DATA IS COLLECTED IN

THE CLINICAL TRIAL ENTERPRISE IS

REALLY CENTRAL. AND BREAKING

THAT DOWN, WHAT THAT MEANS IS

WHEN FDA MAKES A DECISION ABOUT

A CLINICAL TRIAL OR APPROVAL,

THERE IS SOME STATUTORY

REQUIREMENTS OF WHAT FDA THINKS

ABOUT AND THE CONTEXT WHICH THEY

THINK ABOUT THAT PRODUCT. THAT

HELPS INFORM CLINICAL TRIALS

THAT WE DO. WITH THAT CONTEXT,

THE CATEGORIES, IF YOU WILL, ONE

OF THOSE DISTINCT CATEGORIES

LISTS BURDEN OF DISEASE AND

IMPACT ON PATIENTS' DAILY LIVES

SO BREAKING DOWN FURTHER, TWO

CATEGORIES THAT ARE RELEVANT TO

BURDEN OR ECONOMIC IMPACT OF

RARE DISEASE. GOING BEYOND

REGULATORY PROOF OF CLINICAL

TRIALS BECAUSE AT THE END OF THE

DAY DOESN'T MATTER WHETHER DRUG

IS APPROVED, WHAT MATTERS IS

WHETHER OR NOT A PRODUCT CAN

BENEFIT PATIENTS WHETHER WE CAN

RECEIVE IT, WE ALSO HAVE LEARNED

IN THE ACCESS ENVIRONMENT THAT

PAYERS AND THOSE WITHIN HEALTH

AUTHORITY AREA, DON'T ALWAYS

HAVE THE DATA THEY NEED TO MAKE

DECISIONS ABOUT THE PATIENT

COMMUNITY LIVED EXPERIENCE. AND

WE HAVE SEEN THIS TIME AND TIME

AGAIN IN THOSE DIFFERENT ACCESS

ENVIRONMENTS. SO THE TAKE AWAY

FROM THAT IS THAT THE LIVED

EXPERIENCE PATIENT COMMUNITIES

HAS NOT ALWAYS BEEN COLLECTED IN

THE QUANTIFIABLE WAY TO INFORM

DECISION MAKING OF THOSE NEEDED.

SO THERE IS REAL HOLES IN WHAT

WE KNOW. WHAT ARE OUT OF POCKET

COSTS TO PATIENTS, NOT JUST COST

WE SEE IN DIRECT COST DATA,S

WHAT ARE THE MODIFICATIONS THAT

WE ARE PAYING FOR TO OUR

VEHICLES OR HOME, WHAT ARE THOSE

CAREGIVER COSTSNA ARE BEING PAID

FOR OUT OF POCKET, WHAT ARE THE

WHAT ARE CALLED PRODUCTIVITY

LOSSES? WHAT ARE THE COSTS

INCURRED BECAUSE OF FAMILY

MEMBER BECOMES A CAREGIVER OR

DOESN'T WORK FULL TIME BECAUSE

YOU YOURSELF ARE DIAGNOSED OR

LOVED ONE IS DIAGNOSED. THAT IS

WHY WE NEED THIS DATA. WE HAVE

TO HAVE THIS DATA SO THAT IT IS

PART OF THE EQUATION. SO WE SET

OUT TO CONDUCT ONE OF THE FIRST

LARGEST STUDIES OF ITS KIND TO

MOVE FROM THOSE BACK OF THE

ENVELOPE CALCULATIONS OR LIVED

EXPERIENCE WE ALL KNOW, WE ALL

KNOW WHAT IT COSTS OR WHAT THE

IMPACT IS TO BE SOMEONE LIVING

WITH RARE DISEASE BUT WE NEED

REAL DATA AROUND THAT.

SO WE PARTNER WITH THE BROAD

RARE DISEASE COMMUNITY TO

COLLECT DATA AND LOOK AT WHAT

THE ECONOMIC IMPACT OF RARE

DISEASE WAS AND WE DID IT

LOOKING AT THREE COST

CATEGORIES. DIRECT MEDICAL COSTS

WHICH YOU HAVE ALREADY HEARD

ABOUT BECAUSE NIH DATA LOOKED AT

DIRECT MEDICAL COSTS SO THOSE

COSTS REFLECTED IN YOUR MEDICAL

EXPENSES THAT YOU SEE COME BACK

ON YOUR EXPLANATIONS OF BENEFIT,

PHYSICIAN VISITS, ER VISITS, IN

PATIENT AND OUTPATIENT CARE. WE

ALSO LOOK AT THE INDIRECT COSTS.

WHAT DOES IT COST WHEN YOU ARE

NO LONGER WORKING FULL TIME OR

WORKING PART TIME? WHAT DOES IT

COST WHEN YOU HAVE TO LEAVE

EMPLOYMENT EARLY WHICH WE REFER

TO AS FORCED RETIREMENT, NOT

REALLY RETIREMENT -- EARLY

RETIREMENT AND WHAT ARE THE

COSTS NOT PARTICIPATING IN

SOCIETY, THE WAY YOU WOULD WANT

TO. ALSO VERY IMPORTANTLY THOSE

COSTS THAT I TALKED ABOUT THE

NON-MEDICAL COSTS. SO THINGS

THAT MAY BE PRESCRIBED THAT ARE

NOT COVERED BY INSURANCE. WHAT

ARE THE MODIFICATIONS NEEDED IN

ORDER TO LIVE IN HOME OR TRAVEL

PLACE TO PLACE. OUT OF POCKET

CARE COSTS, ET CETERA. WHEN WE

QUANTIFY THOSE COSTS, WE WORKED

WITH THE BROAD COMMUNITY TO

DEVELOP A SURVEY, WE DISSEMI

DISSEMINATED THAT THROUGH HOUR

CON CONSERVATIVETORY PATHWAY

SPONSORS AND WORKPLACE RESPONSE.

WE ASKED THE COMMUNITY TO

REFLECT ON 2019 EXPENDITURES AND

WE HAD RESPONDENTS, OVER 1,400

RESPONDENTS, WHO REPORTED LIVING

WITH 379 RARE DISEASE. SO OUR

DATA REFLECT 379 RARE DISEASE,

WE CAN REMEMBER ESTIMATED

BETWEEN 710,000 RARE DISEASE.

REFLECTING ON 379 RARE DISEASE,

WITH A PREVALENCE OF

15.5 MILLION. THIS MEANS OF 379

RARE DISEASE, PREVALENCE OF

15.5 MILLION AMERICANS AND IN

2019, 379 RARE DISEASE HAD AN

ECONOMIC IMPACT OF $966 BILLION

CLOSE TO A TRILLION DOLLARS.

WHAT WE FOUND THAT IS REALLY

IMPORTANT, THOSE COSTS THE COST

DRIVERS WERE 60% INDIRECT AND

NON-MEDICAL COSTS. MEANING THAT

OF THOSE COSTS, 40% WERE THOSE

DIRECT MEDAKA COSTS. THE

HOSPITAL BILLS, INPATIENT

OUTPATIENT VISITS, ET CETERA.

BUT 60% OF THOSE COSTS ARE COSTS

ABSORBED OUTS OF THE POCKET BY

FAMILIES AND NOT COVERED

ELSEWHERE IN OUR HEALTHCARE

SYSTEM. THAT IS INC ABLY

IMPORTANT DATA NOW FOR ANYONE IN

THE RARE DISEASE COMMUNITY, THAT

IS NOT SURPRISING. BUT SHOULD

BE STAGGERING NUMBER FOR THE

PUBLIC. WE HAVE OTHER DATA

AVAILABLE AND I WON'T GO THROUGH

IT MANY IT'S ON THE WEBSITE AND

PUBLICATIONS BUT I WANT TO

HIGHLIGHT IN THE DIRECT MEDICAL

COST DATA THAT 40 PERKS THE COST

DRIVERS WERE NOT SOME OF THE

COST DRIVERS WE SPENT TIME

TALKING ABOUT, THEY WERE

INPATIENT EXPENSES OUTPATIENT

EXPENSES. THINGS THAT PROBABLY

COULD BE REDUCED IF WE REDUCE

AND STREAMLINE PROCESSES LIKE

DIAGNOSTIC ODYSSEY, IF WE HAD

BETTER TREATMENT INTERVENTIONS

EARLIER, MITIGATED SYMPTOMS OF

OUR DISEASE

A. SO HERE IS PICTURE OF WHAT WE

EXPERIENCE IN RARE DISEASE

COMMUNITY, WE BELIEVE THAT THERE

ARE LOW HANGING FRUIT WHEN IT

COMES TO POLICY CHANGE. AND WE

KNOW THAT RARE IS NOT RARE. AND

THIS DATA UNDERSCORES THE FACT

WE HAVE A PUBLIC HEALTH CRISIS

OF RARE DISEASE IN THE U.S. AND

IT DESERVES RESOURCES THAT MATCH

THE PUBLIC HEALTH URGENCY LIVING

WITH RARE DISEASE. SO THANK YOU.

WE ARE REALLY LOOKING TO SHIFT

THE CONVERSATION AND THE PUBLIC

HEALTH DIALOGUE AROUND RARE

DISEASE. BECAUSE AGAIN RARE IS

NOT RARE. THANK YOU THE PARTNERS

AND BROAD COMMUNITY WHO HELPED

MAKE THIS STUDY POSSIBLE.

WITHOUT EVERY MEMBER OF THE

COMMUNITY WHO PARTICIPATED IN

SURVEY AND ORGANIZATION HELP

CREATE IT, WE COULDN'T HAVE DONE

THIS. THANK YOU.

>> MISNAME IS ERIC SID, OFFICER

AT THE NATIONAL CENTER FOR

ADVANCING TRANSLATIONAL SCIENCES

OR NCATS AT NATIONAL INSTITUTES

OF HEALTH. I'M HERE TO TO TALK

TALK ABOUT GENETIC AND RARE

DISEASES OAR GUARD INFORMATION

CENTER AND PROVIDES UPDATES

ABOUT THAT PROGRAM. OUR APPROACH

TO RESEARCH IS FIND

GENERALIZABLE SOLUTIONS

TARGETING MANY RARE DISEASE.

PATIENTS WITH RARE DISEASE

OFTENTIMES FACE COMMON

CHALLENGES LACK OF TREATMENT,

LONG DIAGNOSTIC ODYSSEY, WE WILL

HAVE A SESSION AT THE END OF

TODAY SO STICK AROUND FOR

THROUGHOUT THE ENTIRE EVENT AND

THEN FINDING RELIABLE ON LINE

INFORMATION IS PARTICULARLY A

CHALLENGE. GUARD HAS BEEN AROUND

SINCE THE RARE DISEASE ACT OF

2002 AND IS PUBLIC HEALTH

RESOURCE ESTABLISHED TO SUPPORT

PATIENTS CAREGIVERS AND THEIR

FAMILIES WITH UNDERSTANDABLE

INFORMATION ABOUT RARE DISEASE.

YOU CAN REACH GUARD AT

RAREDISEASES.INFO.NIH.GOV. THIS

CHALLENGE OF FINDING RELIABLE

INFORMATION IS NOT UNIQUE TO

RARE DISEASE ALONE. OUR

COLLEAGUES AT THE NATIONAL

INSTITUTES OF CANCER,

COMPLIMENTARY AL -- INTEGRATIVE

HEALTH AS WELL AS AGING HAVE

SIMILAR RESOURCES DEDICATED TO

HELPING PATIENTS FIND RELIABLE

INFORMATION. TO CHALLENGE THAT

WE FACE WITHIN RARE DISEASE IS

THE RESEARCH EVIDENCE. IT IS

CONSTANTLY GROWING. WE SEE OVER

900,000 PUBLICATIONS NEW

PUBLICATION EVERY YEAR NATIONAL

LIBRARY OF MEDICINE. OUR

CHALLENGE IS MAINTAINING

INFORMATION ON THOUSANDS OF RARE

DISEASE ACROSS HUNDREDS OF

THOUSANDS OF PUBLICATIONS,

THOUSANDS OF JOURNALS AND

THOUSANDS OF RESEARCHERS. SO

ONE OF THE QUESTIONS WE HAD FOR

OURSELF, CAN WE LEVERAGE

EXISTING COLLECTION OF DATA ON

RARE DISEASE TO HELP IMPROVE ACT

SEMIRATE TO DELIVER INFORMATION

TO PATIENTS AND CAREGIVERS ABOUT

RARE DISEASE. THINKING ABOUT

LEVERAGING EXISTING DATA FOR

PUBLIC HEALTH WE LOOKED WITH A

FOCUS ON DATA THAT IS FAIR.

FINDABLE ACCESSIBLE

INTEROPERABLE REUSABLE. IN

PARTICULAR FOCUSED ON VERGE

DATABASES THAT EXIST BOTH AT THE

NIH AS WELL AS WITHIN EU AT

ORPHAN NET AND SOME RESEARCH

COLLEAGUES AT MONARCH

INITIATIVES DISEASE ON TOLL AND

MENDELIAN DATABASES. WHAT WE

TRIED TO DO IS WE TRIED TO

EXTRACT AND INFER KNOWLEDGE FROM

DIFFERENT DATA SOURCES, SYMPTOMS

OF DISEASE, EPIDEMIOLOGY RATES,

CAUSAL GENES, OTHER INFORMATION,

WE TRY TO ORGANIZE THAT ALL

TOGETHER AND BASICALLY THAT

WOULD BE WAY FOR US TO CREATE

THIS INFORMATION LEVERAGING THE

WORK THAT NOT JUST RESEARCHERS

ARE DOING BUT FIELD AS A RARE

DISEASE RESEARCH AS A WHOLE HAS.

WE WANT TO FOCUS ON 1/2 NAVIGATE

DATA BACK TO THAT PARTICULAR

JOURNEY. HERE ARE YOURNAL MAPS

AS WELL AS COLLEAGUES IN THE

EUROPEAN EUROPEAN UNION AND THE

THINGS THEY SHOW IN COMMON IS

THAT OFTEN TIMES AFTER PATIENT

FIRST STARTS TO HAVE INITIAL

SYMPTOMS WE SEEK CARE WITH THEIR

PRIMARY CARE PROVIDERS NEXT STEP

IS TO GO DOEN LION RESEARCH AND

TYPICALLY NEXT STEP FROM THERE

IS TO LOOK AND FIND SPECIALIST

WE BUILT OUT A BETA WEBSITE THAT

LEVERAGE IT IS DATA, YOU CAN

REACH AT BETA.RARE DATA

DISEASES.INFO.NIH.GOV. WE TRY TO

FOCUS WHO TO REUSE THIS EXISTING

DATA AND INTERPRETING FOR

PATIENTS TO USE. SO ON HERE YOU

WILL SEE SOME PREVIEW OF HOW WE

ARE TRYING TO PULL IN SOME OF

THE EXISTING INFORMATION ON

SYMPTOMS AGE OF ONSET OF DISEASE

AND TRYING TO UNDERSTAND CAN WE

PUT IT IN A FORMAT PATIENTS CAN

MAKE USE OUT OF. AS AN EXAMPLE

ONE OF THE QUESTIONS THAT I WAS

EXPRESSING EARLIER THAT PATIENTS

ARE VITAL TO PATIENT JOURNEY IS

THAT FIRST VISIT TO SPECIALIST.

WHAT WE ARE TRYING TO DO IS FIND

WAYS TO PULL FROM THAT DATA ALL

THAT INFORMATION, OTHER STUFF

COLLECTED AND TRY TO UNDERSTAND

WHICH DISEASES DO YOU NEED TO

SEE SOMEONE LIKE A SPECIALIST.

AND PART OF OUR QUESTION IS HOW

DO WE THEN BRING THAT

INFORMATION TO WEBSITE USERS

THAT ARE RARE DISEASE PATIENTS

AND CAREGIVERS, IN A WAY THAT'S

ACTIONABLE AS WELL AS FITS THEIR

NEEDS. SO FOR EXAMPLE, IF THEY

HAVE TO GET A GENETIC TEST, CAN

WE EXPLAIN TO THEM WHAT EXACTLY

IS GENETIC TEST AND WHERE THEY

CAN GO SEEK GENETIC TESTING.

OUR NEXT STEPS WITH THIS WEBSITE

ARE TO START TAILORING IT TO FIT

WEBSITE USER NEEDS FOR PATIENTS

AND CAREGIVERS. SO FOR EXAMPLE,

ONE OF THE THINGS THAT WE HAVE

STARTED TO UNDERSTAND AND TRY TO

BUILD OUT IS FUNCTIONS NEEDED TO

SEARCH AND FILTER FOR RARE

DISEASE. DO WE DO IT

ALPHABETICALLY, BY CERTAIN

CATEGORIES, ARE THERE OTHER

TYPES OF QUESTIONS THAT

CAREGIVER MIGHT BE ASKING WE CAN

USE TO THEN HELP MAKE EASIER FOR

THEM TO FIND OUR DISEASE PAGES.

TO DO THAT IN ORDER TO TAILOR

NEXT VERSION OF GUARD, 2.0 FOR

PATIENTS AND CAREGIVERS WE NEED

YOUR HELP. PLEASE VISIT THE BETA

SITE AND PROVIDE FEEDBACK, AT

THE TOP YOU SEE A LINK TO THE

FEEDBACK FORM AND IF YOU ARE

PARTICULARLY INTERESTED IN

VOLUNTEERING FOR USER TESTING

WE'D LOVE TO HAVE YOUR SUPPORT

ORDR@NIH.GOV AND IN THE SUBJECT

LINE WRITE INTERESTED IN USER

TESTING. THANK YOU. I JUST

WANTED TO HIGHLIGHT AGAIN THAT

WHAT WE ARE TRYING TO DO AT

NCATS IS HELP CREATE SOLUTIONS

THAT CAN APPLY ACROSS MANY

DIFFERENT PROBLEMS IN THIS CASE

LOOK AT ALL DIFFERENT WAYS THAT

PATIENTS WITH RARE DISEASE ARE

LOOKING FOR INFORMATION ONLINE.

THANK YOU FOR THAT. ENJOY THE

REST OF TODAY AND LOOK OUT FOR

OUR LATER SESSION ON THE

DIAGNOSTICS ODYSSEY WHERE WE CAN

TALK AGAIN IN A LITTLE BIT.

THANK YOU.

>> HELLO. WELCOME TO SESSION 3.

SUCCESSFUL CLINICAL TRIAL

ENROLLMENT WITH TRUE ADVOCACY

COLLABORATION DURING CHALLENGING

TIMES. MY NAME IS SANJAY,

SENIOR DIRECTOR HEAD OF PATIENT

SERVICES AT UBC. TODAY I HAVE

THE ON NOR OF MODERATING THIS

SESSION. THIS IS TOPIC AND

ESPECIALLY EXITEDDED ABOUT AS I

HAD THE LUXURY OF BEING A BRIDGE

BETWEEN INDUSTRY AND ADVOCACY

WITH A SPECIAL CONCENTRATION IN

A RARE DISEASE FOR QUITE SOME

TIME. I'M SO PLEASED TO HAVE DR.

SAN SAY SHUKLA, PRESIDENT AND

CEO AT ATYR PHARMA, TRICHA

SHIVAS, CHIEF STRATEGY OFFICER

AT FOUNDATION OF SARCOIDOSIS

RESEARCH FSR AND ERIKA COURTENAY

COURTENAY-MANN, MEMBER OF THE

FSR WOMAN OF COLOR PATIENT

ADVISORY COMMITTEE. BEFORE WE

GET STARTED WITH THE DISCUSSION,

I LIKE TO TOUCH ON REMINDERS

WHERE WE ARE IN THE RARE DISEASE

LANDSCAPE, THAT TOUCH ON THE

TONE WHY IT IS SO IMPORTANT FOR

ADVOCACY AND INDUSTRY TO WORK

TOGETHER. RARE DISEASE CLINICAL

TRIALS ARE HARD TO START AND

ENROLL, RELATIONSHIPS WITH

ADVOCACY ORGANIZATIONS CAN MAKE

OR BREAK WHETHER CLINICAL TRIALS

IS SUCCESSFUL. WE NEED TO

UNDERSTAND WHERE PATIENTS ARE IN

ORDER TO SUCCESSFULLY RUN

CLINICAL TRIALS IN THE RARE

DISEASE SPACE. WE NEED TO THINK

CRITICALLY IN TRIAL

IMPLEMENTATION TO ALLOW FOR

DIVERSE PARTICIPATION. WE ALL

KNOW THERE ARE 7,000 PLUS RARE

DISEASE AND PATIENTS EXPERIENCE

SIGNIFICANT DIAGNOSIS DELAY.

THERE ARE ONLY A FEW HUNDRED FDA

APPROVED TREATMENTS AND EVEN

THOSE THAT HAVE TREATMENTS THERE

ARE LIMITATIONS ON IMPACT OF

PARTICULAR TREATMENT HAS ACROSS

INDIVIDUALS. MOST RARE DISEASES

ARE NOT WELL UNDERSTOOD. TEND TO

BE SERIOUS COMPLEX AND LIFE

LONG. INDUSTRY AND PATIENT

ADVOCACY COLLABORATIONS ARE KEY

TO SUCCESS FOR ALL PHASES ACROSS

DRUG DEVELOPMENT. TODAY WE WILL

BE DISCUSSING LESSONS LEARNED

FROM A PHASE 1, 2 TRIAL FOR

PULMONARY SARCOIDOSIS DESPITE

FACED WITH A CHALLENGING

PANDEMIC ENVIRONMENT AND ADVICE

FOR CLINICAL TRIALS SUCCESSES IN

THE FUTURE. DR. SHUKLA, I WOULD

LIKE TO START WITH YOU. WHAT

BARRIERS DID YOU SEE IN THE

RESEARCH COMMUNITY, SPECIFIC TO

PULMONARY SARCOIDOSIS?

>> THANK YOU FOR INVITING ME ON

THIS PANEL. SHAZIA. I THINK ONE

OF THE FIRST THING THAT WE

ENCOUNTERED WHEN WE STARTED TO

THINK ABOUT MOVING OUR POTENTIAL

THERAPY INTO SARCOIDOSIS WAS

REALLY UNDERSTANDING THE

DISEASE. DISEASE EDUCATION AND

START TO MECHANISTIC

UNDERSTANDING THE MECHANISM OF

ACTION, ETIOLOGY. AND WE TOOK A

RATHER UNORTHODOX APPROACH

BECAUSE WE WORK IN A VERY NEW

AREA OF BIOLOGY, THAT ITSELF IS

NOT IN ANY MEDICAL IMMUNOLOGY

TEXT BOOKS. SOY REACHED OUT TO

NUMBER OF PATIENT FOUNDATIONS

VERY EARLY ON WHEN WE HAD

PRE-CLINICAL DATA, DATA IN

ANIMALS. AS I WAS A LITTLE

UNORTHODOX. WE STARTED TO LEARN

MORE ABOUT SARCOIDOSIS.

MECHANISM, POTENTIAL

PERTURBATION IN DISEASE WHERE WE

CAN MAKE IMPACT AND WE SAT WITH

EXPERTS TO UNDERSTAND THE

DISEASE REALLY EARLY ON. SO THE

FIRST PART WAS UNDERSTANDING OF

THE DISEASE, PATHOPHYSIOLOGY.

THIS ENWE STARTED REALLY

UNDERSTAND THE BURDEN OVERDOSES

AND WHERE I THERAPY MIGHT MAKE

POTENTIAL IMPACT. WITH OUR

THERAPIES EARLY SIGNAL AS

POTENTIAL ANTI-INFLAMMATORY OR

ANTI-FIBROTIC WE THOUGHT IT WAS

POTENTIAL GOOD DISEASE FOR US TO

TARGET. THAT INVOLVED DISCUSSION

AND A LOT OF TEACHING ON BEHALF

OF PATIENTS AND EXPERTS WHERE

THEY TAUGHT US HERE IS WHAT THE

DISEASE IS ABOUT, WHERE THERE IS

BURDEN OF DISEASE AND HERE IS

WHERE WE NEED A BETTER THERAPY.

AS WHICH STARTED TO GENERATE

MORE DATA WE REALLY OPENED THE

DOORS TO SHOW EXPERTS AND GROUPS

LIKE FSR WHAT PRE-CLINICAL DATA

LOOKED LIKE AND TOOK A DIFFERENT

APPROACH SAYING DO YOU THINK

THIS WOULD BE A USEFUL THERAPY

TO MOVE INTO SARCOIDOSIS. AS WE

STARTED TO GENERATE MORE DATA WE

UNDERSTAND MORE ABOUT TREATMENT

BURDEN, CURRENT TREATMENT. THAT

IS WHERE WE STARTED TO START TO

THINK ABOUT HOW WE DESIGN A

TRIAL BUT A TRIAL THAT ALSO

FOCUSES EARLY ON MAKING IMPACT

FOR PATIENTS. SO WHAT COULD WE

DO WITH A PROTOCOL THAT WOULD

HAVE A MEANINGFUL SIGNAL? A LOT

OF BIOTECH COMPANIES AND I HAVE

BEEN IN INDUSTRY SOME TIME NOW

FOCUS ON A BIOMARKER WHICH CAN

BE WILDLY IMPORTANT FROM A

SCIENTIFIC POINT BUT DOES THAT

MAKE IMPACT IN PATIENTs LIVES?

THERE THERE IS RISK INVOLVED IN

TAKING SOME OF THE APPROACHES WE

TOOK WITH EARLY PROTOCOL. WHICH

FOCUSED ON POTENTIALLY LOOKING

AT A STEROID SPARING DESIGN.

BECAUSE WE LEARN FROM PATIENTS

EARLY ON THAT STEROIDS ARE JUST

AWFUL AND IF WE ARE GOING TO

CREATE A NEW THERAPY LET'S DO SO

BY IMMEDIATELY STARTING TO

ANSWER QUESTIONS COULD THIS BE

USEFUL IN PEELING BACK SOME OF

THE STEROID UTILIZATION OR

MANAGE TO REPLACE STEROIDS. SO

ALL THESE THINGS INVOLVED THE

FIRST CHALLENGE OF BEING BRAVES

ENOUGH AND HAVING ABILITY TO

REACH OUT TO GROUPS AND IT

WASN'T JUST SARCOIDOSIS

COMMUNITY BUT WE REACHED OUT TO

OTHER PATIENT FOUNDATIONS AND

PULMONARY FIBROSIS SCHEMER DERMA

WHERE WE THOUGHT THERAPY WAS

USEFUL BUT IN TOTAL IT INVOLVES

AN APPROACH WE SAT SIDE BY SIDE

TO UNDERSTAND WHAT WE DON'T KNOW

FROM MECHANISM POINT OF VIEW,

WHAT DO WE KNOW ABOUT THE

DISEASE. WHAT DON'T WE KNOW

ABOUT TREATMENT I HI IT WAS A

FULL JOURNEY HERE THAT I AM

GRATEFUL TO HAVE PARTNERED

REALLY EARLY ON WITH THE FSR.

>> GREAT. THANK YOU. THAT IS

VERY HELPFUL. ERIKA, QUESTION

FOR YOU. AS A PATIENT WHY IS IT

IMPORTANT THAT PHARMACEUTICAL

COMPANIES LISTEN TO PATIENTS

WHEN CREATING TRIALS?

>> THANK YOU FOR THAT QUESTION.

PATIENTS NAVIGATE LIFE WITH

THEIR DISEASE AND THEY HAVE A

DAILY JOURNAL OF NUANCES AND

LIFE HAIKS TO HELP SURVIVE.

LISTENING TO PATIENTS HELP

PHARMACEUTICAL COMPANIES BRING

IN WHAT MATTERS MOST AND PATIENT

PRIORITIES. IT IS REALLY

IMPERATIVE THAT THE

PHARMACEUTICAL COMPANIES, THEY

THINK ABOUT -- THEY INTEGRATE

WHAT REALLY MATTERS TO THE

PATIENT THE MOST AND HOW THEY

AFFECT QUALITY OF LIFE, THEY

NEED TO PUT THAT TYPE OF

MINDFULNESS INTO THEIR CLINICAL

TRIALS. TO UNDERSTAND WHAT

MATTERS MOST TO PATIENTS, LET'S

TAKE FOR INSTANCE OR LOOK AT ONE

OF THE BIGGEST QUALITY OF LIFE

MEASURES IS HOW A PATIENT DOES

ON STEROIDS. HOW A PATIENT BODY

PROCESSES STEROID, THAT IS OFTEN

THE KEY, THAT SETS THE TONE OF

THEY ARE -- THEIR QUALITY OF

LIFE MEASURES. STEROIDS OFFER

FIRST LINE DEFENSE FOR TREATING

SARCOIDOSIS SO YOU CAN'T AVOID

OR GET AROUND THEM. THEY

EFFECTIVELY RECUSE STOMACH

EPIFLAYMATION. HOWEVER IN TANDEM

THEY CAUSE SOME PATIENTS

IMMEDIATE WAKING, DEPRESSION,

SHAME FROM CHANGING APPEARANCE

AND ALSO MOOD SWINGS JUST TO

NAME A FEW SIDE EFFECTS. SO A

PATIENT THAT IS EXPERIENCING ANY

OF THESE SIDE EFFECTS, IS REALLY

GOING TO BE LOOKING FOR A

MEDICAL SOLUTION THAT CAN

SEVERELY IMPROVE THEIR EVERY DAY

QUALITY OF LIFE. MEDICAL

SOLUTION THAT CAN REDUCE THE

INFLAMMATION BUT NOT CAUSE

DISRUPTION TO EVERY DAY LIFE DUE

TO SIDE EFFECTS. THAT IS WHAT

PATIENTS ARE LOOKING FOR. THE

WORKING MOM IS GOING TO WANT A

SOLUTION WITHOUT HAVING TO

MANAGE DEPRESSION WHILE

PARENTING HER CHILDREN. AND

OUTCOMES IS VARY PER PATIENT. SO

IN THE PHARMA COMPANY BEST

INTEREST. THAT CAN TRULY SERVE

AS A BRIDGE BETWEEN PATIENT

NEEDS, AND MEDICAL SOLUTION LEAD

TO POSITIVE HEALTH OUTCOMES.

WHEN I FIRST STARTED TREATING MY

SARCOIDOSIS I WAS ON PREDNISONE,

I BLINKED AND I GAINED 15

POUNDS. I ALSO SUFFERED FROM

INCREASED DEPRESSION, CLASSIC

MOOD -- ONE DAY AT WORK I

GLIMPSED MY REFLECT IN THE HALLS

AND I BROKE DOWN TO TEARS. IT

MADE ME EVEN MORE DEPRESSED. BY

TIME I GOT HOME I WAS DEPLETED

EMOTIONALLY AND THEN I REMEMBER

SOMETIMES MY SARCOIDOSIS -- THE

STRESS THEN I SUDDENLY STRESSED

OUT ABOUT HOW NOT TO STRESS

MYSELF OUT BECAUSE OF -- IT WAS

LIKE ON HAMSTER WHEEL AND NOT

ABLE TO GET OUT. IT IS THE

THINGS LIKE THAT THAT AFFECT THE

PATIENTS HAPPINESS AND JOY,

THOSE THINGS REALLY MATTER.

BEING ABLE TO HAVE DINNER WITH

YOUR CHILDREN AND NOT BE

FATIGUED, BEING ABLE TO CLIMB A

FLIGHT OF STAIRS WITHOUT FEELING

LIKE YOU NEED A DEFIBRILLATOR,

FEELING CONFIDENT IN WHO YOU ARE

THOUGH YOU HAVE SARCOIDOSIS YOU

MAYBE PRESENT ON YOUR SKIN.

EVERY DAY LIVING AND QUALITY OF

LIFE IS PYRAMID TO PATIENTS.

PATIENTS NEED PHARMACEUTICAL

COMPANIES TO CONSIDER IN ALL

SYMPTOMS ENGAGE IN SCENARIOS HOW

TREATMENT WILL LOOK FOR PATIENTS

OF ECONOMIC BACKGROUNDS AND

CREATE A PARTNERSHIP WITH THE

COMMUNITY TO REFINE THEIR

MISSION AND APPROACH TO CREATING

VIABLE SOLUTIONS.

>> THANK YOU, ERIKA. THAT'S

INCREDIBLE. SO IMPORTANT.

SUFFICIENT AN IMPORTANT MESSAGE.

OUTCOMES THAT MATTER TO PATIENTS

AND THAT IS HOW WE CAN GATHER

THOSE. THANK YOU. NEXT QUESTION

FOR YOU, TRISHA -- TRICHA, WHAT

ARE SOME OF THE THINGS REPORTED

FOR THE TEAM PHASE 2 STUDY IN

SARCO SARCOIDOSIS.

>> WE ARE SO THANKFUL TO

REACHING OUT EARLY TO ENSURE

PATIENT VOICE WAS AT THE ENTER

OF THE RILE. THE FOUNDATION FOR

SARCOIDOSIS RESEARCH IS LEADING

INTERNATIONAL NON-PROFIT

ORGANIZATION. DEDICATED TO

FINDING CURE TO SARCOIDOSIS. AND

IMPROVING THE LIVES OF PATIENTS

THROUGH RESEARCH SUPPORT AND

EDUCATION. WE HAVE A STRONG

RELATIONSHIP WITH THE WORLD

LEADING EXPERTS. WE HAVE A

FINGER ON THE PULSE OF

SARCOIDOSIS RESEARCH AND ABLE TO

PROVIDE MEANINGFUL REFLECTIONS

FROM OUR ENGAGEMENT WITH

PATIENTS ON THEIR DESIRED NEEDS,

THEIR HOPES, AND THEIR CONCERNS

ABOUT CLINICAL TRIALS. ATTIRE

RECOGNIZED OUR POSITION IN THE

COMMUNITY AND SOUGHT TO FIND

MEANINGFUL WAYS FOR US TO PLAY A

PIVOTAL ROLE IN BUILDING THEIR

RELATIONSHIP WITH KOLs AND

WITH THE SUBJECT MATTER EXPERTS.

AND FOR IDENTIFYING PATIENT

NEEDS TO HELP SHAPE THE TRIAL.

WHAT IS UNIQUE AND DIFFERENT

HERE WAS THE INVITATION FOR FSR

TO HAVE A SEAT AT THE TABLE AND

A VOICE AT EVERY STAGE OF THE

TRIAL. NOT JUST TO REFLECT AFTER

PROTOCOL IS WRITTEN OR AFTER ALL

THE OUTCOMES WERE SELECTED AND

VETTED. LISTENING TO THE

PATIENTINGS MEANS BEING WILLING

TO ADAPT AND ADJUST. AND THIS IS

TRULY WHERE ATTIRE EXCELLED.

THIS PLAYED A SIGNIFICANT ROLE

IN TRIALS SUCCESS. AS YOU HEARD

FROM THERE SHUKLA AND ERIKA WITH

STEROIDS AND PAYING ATTENTION TO

WHAT IS MOST IMPORTANT TO THE

PATIENTS. ATTIRE WASN'T AD

FRIDAY TO ASK THE HARD QUESTIONS

AND EXPECTED THE UNEXPECTED

ANSWERS. ADVOCACY ORGANIZATIONS

MUST DO WORK HERE TO PROVIDE

SENSE ASSISTANCE. MY

RECOMMENDATION TO ADVOCACY

ORGANIZES IS TO START NOW. BY

BUILDING STROLLINGS

RELATIONSHIPS WITH YOUR

CLINICIANS, TO EDUCATE YOUR

COMMUNITY. REACH OUT TO

INDUSTRY, AND WELCOME THEM TO

YOUR TABLE AND ASK THEM TO

WELCOME YOU TO THEIR TABLE.

SURVEY YOUR PATIENT COMMUNITY AS

YOU LEARN MORE ASK YOUR

COMMUNITY TO REFLECT AND PROVIDE

FEEDBACK. THE PARTNERSHIP WE

HAVE WITH ATIRE CREATED TRUE BUY

IN AND TRUST IN THE COMMUNITY.

WHICH IS CENTRAL TO ALL

SUCCESSFUL CLINICAL TRIALS. AND

IT MADE IT POSSIBLE FOR US TO

WORK TOGETHER TO FINISH

RECRUITMENT DURING ONE OF THE

BIGGEST RESEARCH INSTRUCTORS OF

OUR TIME, THE EMERGENCE AND

SURGE OF COVID. COLLABORATION IS

KEY AND PROGRESS IS ONLY

POSSIBLE TOGETHER.

>> GREAT, TRICHA. I KNOW FSR IS

A REMARKABLE EXAMPLE OF SUCH A

GREAT COLLABORATION IN INDUSTRY.

IT IS NOT JUST WITH ATTIRE. I

KNOW YOU ARE WORKING WITH OTHER

ORGANIZATIONS OTHER MEMBERS OF

THE INDUSTRY. SO THIS IS A GREAT

EXAMPLE TO SHARE WITH OTHERS.

THANK YOU. DR. SHUKLA, WHAT DID

YOU DO TO PARTICULARLY ADAPT TO

THE CHALLENGES WITH COVID-19 AND

CHALLENGES WITH ENROLLMENT TO

CONTINUE ENROLLMENT ESPECIALLY?

>> THAT WAS A HUGE CHALLENGE.

AND I THINK IT WOULDN'T BE

ACTUALLY -- WE WOULDN'T HAVE

BEEN ABLE TO MOVE THROUGH THIS

TRIAL WHICH COULD HAVE BEEN A

BROKEN TRIAL, MANY SPONSORS

BIOTECH SPONSORS PHARMA SPONSORS

TEAL WITH THESE CHALLENGES AND

SOMETIMES TRIALS ARE -- WERE

BROKEN. THAT IS WHERE IN THE

MIDDLE OF A TRIAL YOU JUST CAN'T

CONTINUE ENROLLMENT AND YOU END

UP WITH A LIMITED DATA SET. TO

LOOK AT. AND VERY DIFFICULT TO

THEN MAKE JUDGMENTS AROUND

TRENDS OF EFFICACY. BACK TO WHAT

TRICHA SAID, THE BUY IN EARLY

WITH PATIENTS THAT ONLY COMES IF

YOU HAVE TRUST. I THINK WE WERE

ABLE TO GET THAT TRUST FROM THE

ORGANIZATION, I CAN REMEMBER

INITIALLY TRYING TO MAYBE THINK

ABOUT MOVING IN SARCOIDOSIS,

EVEN WITH SOME KEY OPINION

LEADERS, AND I'M NOT A

PULMONOLOGIST BUT GETTING ONE

MINUTE OF THEIR TEAM WHILE THEY

LEFT MEDICAL CONFERENCE AND SAID

I'M GOING DOWN THE ESCALATOR,

TALK TO ME NOW. THEY DON'T -- SO

IT WAS ONE OF THESE THINGS TO

SAY LOOK I THINK I HAVE A

CONCEPT HERE THAT COULD BE

INTERESTING BUT FSR BROUGHT SOME

OF THOSE EXPERTS TO THE TABLE

AND THEY HAVE THE RESPECT OF

PATIENTS. SO SOMETIMES IT WAS

UNCOMFORTABLE TO BE ABLE TO SHOW

AND TELL AND THE TRUST STARTS

WITH ALSO BEING ABLE TO

UNDERSTAND YOU MAY NOT HEAR

THINGS THAT MAY FITTED EXACTLY

WHAT YOU WANT TO DO

OPERATIONALLY. MAY PRIOR END

POINT THAT YOU DON'T NECESSARILY

THINK IS THAT SOMETHING WE

SHOULD RESEARCH. WE INCORPORATED

SOME IDEAS, NOT ALL. I THINK

THAT GIVE AND TAKE IS PART OF

WHY THIS WAS AN EFFECTIVE

RELATIONSHIP. ONCE THAT

FOUNDATION WAS BUILT THAT

ALLOWED US DURING COVID TO

FRANKLY HAVE THE ABILITY TO

MARSHALL THROUGH REALLY

DIFFICULT TIME ENROLL PATIENTS.

IT HELPED CERTAIN PATIENTS IS A

BLINDED STUDY, FEEL BETTER. THEY

STARTED TO PERFORM BETTER FROM

DATA POINT OF VIEW. WHAT

MATTERED IS GETTING OFF STEROIDS

AND FEELING BETTER. THAT KEPT

PATIENTS MOTIVATED IN OUR TRIAL.

IF I WAS FOLLOWING A BIOMARKER,

MAYBE IF THAT WAS PRIMARY END

POINT, WE WOULDN'T HAVE BEEN AS

SUCCESSFUL. BUT I DO KNOW

PATIENTS PONT LINE, THEY DIDN'T

KNOW WHAT THEY WERE ON WHETHER

PLACEBO OR DRUG. I CAN THINK ONE

PATIENT THAT FLEW HUNDREDS OF

MILES FOR THEIR MONTHLY VISIT TO

CONTINUE IN THE TRIAL. NOT

KNOWING WHAT THEY WERE ON, THEY

WERE CONTRIBUTING TO THE DATA

SET. SOME OF THAT I THINK HAD

TO DO WITH SOME OF THE EARLY

GOOD FOUNDATION WE BUILT IN

BUILTING THAT TRUST WITH

VERITABLE ORGANIZATION LIKE FSR.

THEY KNEW US SO THEY WERE ABLE

TO ALSO SAY THIS IS A CREDIBLE

GROUP AND PATIENTS STEPPED UP AT

THE END OF THE DAY WITHOUT

KNOWING WHAT THEY ARE ON SAID

THIS WAS AN IMPORTANT DATA SET

THAT WE ARE CREATING BEYOND JUST

WHAT THE OUTCOMES ARE. BECAUSE

THERE WAS THAT TRUST. SO WE ARE

FORTUNATE THE PATIENTS CONTINUED

TO COME IN. SOME CENTERS HAD TO

SHUT DOWN. MORE THAN OTHERS. WE

HAD TO MAKE AMENDMENTS AND

TWEAKS TO PROTOCOL BECAUSE SOME

THINGS WE WERE UNABLE TO ACCESS

DURING COVID BUT AT THE END OF

THE DAY THE PATIENTS INVOLVEMENT

IN THE TRIAL ALLOWED US TO LOOK

AT THIS DATA SET. AT END OF THE

DAY IT TURNED OUT WELL FOR US

BUT PART OF THE JOURNEY HERE IS

ALSO CREATING DATA THAT DOESN'T

OCCUR UNLESS PATIENTS GET

INVOLVED AND THE ONLY REASON

THEY GOT INVOLVED IS BECAUSE WE

HAVE THAT FOUNDATION.

>> GREAT. TRICHA, A QUESTION FOR

YOU WITH THE PULMONARY

SARCOIDOSIS TRIAL, WHAT WERE THE

LEARNINGS FROM THERE FOR PATIENT

PARTICIPATION, ANY SPECIFIC

LEARNINGS THAT YOU CAN SHARE?

>> I WANT TO BUILD A LITTLE BIT

ON WHAT DR. SHUKLA WAS TALKING

ABOUT WITH REGARD TO COVID. AND

THAT TRUST THAT WAS BUILT

BECAUSE I BELIEVE THAT SHAPED

QUITE A BIT OF WHAT WE WERE ABLE

TO DO DURING THOSE CHALLENGING

TIMES. SO DURING THAT TIME FSR

AND ATYR WORKED CLOSELY ON THE

SHIFTING LANDSCAPE TO PIVOT IN

THOSE TERMS AND BE ABLE TO HAVE

CONSTANT CONVERSATIONS. WE

WORKED WITH THE TRIAL SITES,

SPOKE WITH TRIAL COORDINATORS,

KEPT ATYR INFORMED AND THEY KEPT

US INFORMED THE REALS SHIM BUILT

EARLY ON CONTINUED TO GROW

THROUGHOUT THE MOST CHALLENGING

THING YOU CAN HAVE RISK OF

TRIALS COMPLETELY SHUT DOWN. WE

HAVE FREQUENT CONVERSATION WITH

SITES TO UNDERSTAND WHAT

CHALLENGES THEY WERE FACING AND

BUILT STRONG RELATIONSHIPS WITH

COORDINATOR WHOSE ARE THE FRONT

LINE IN A LOT OF WAYS OF THESE

TRIALS AND IT WAS REALLY

IMPORTANT FOR US TO HAVE THOSE

OPEN CONVERSATIONS TO HEAR WHAT

THEY WERE FACING. WE CREATE AD

NETWORK THAT ALLOWED THEM TO

SHARE WITH EACH OTHER AND

PROVIDE BEST PRACTICE TIPS FOR

EACH OTHER WHICH MADE IT

POSSIBLE FOR THEM TO HAVE REALLY

MEANINGFUL CONVERSATIONS ABOUT

WHY THEY SHOULD CONTINUE TO

TRAVEL TO THE TRIALS AND I

BELIEVE GAUGE. AND ENGAGE. WE

ENCOURAGE COMMUNICATION WITH

DOCTOR AND TRIAL SITES AND LET

THEM KNOW ANY CHALLENGE IN

PARTICULAR THEY WERE FACING SO

THAT SOME SOLUTIONS CAN BE

PROPOSED OR THOUGHT OF IN THE

MOMENT. WE MAD -- WERE CAREFUL

TO KEEP THE WHOLE COMMUNITY UP

TO DATE ON THE TRIAL EVERY STEP

OF THE WAY. AND AGAIN THANKFUL

TO ATYR FOR HELPING DO THAT,

BEING EXHUME KAYTIVE WITH THE

COMMUNITY NOSHED TO MOVE THAT

FORWARD. AND THIS WAS

PARTICULARLY CRITICAL I THINK

WHEN WE THINK ABOUT COVID

BECAUSE THE NOISE OF COVID

DOMINATED ALL DISCUSSIONS RIGHT

NOW FOR THE LAST TWO YEARS. SO

FINDING A WAY TO MAKE SURE WE

WERE ABLE TO BREAK THROUGH THE

IMPORTANCE OF PARTICIPATENING

THIS CLINICAL TRIALS BEING

ACTIVE IN CLINICAL TRIALS AND

HEARING DIRECTLY REPEATEDLY FROM

THE ORGANIZATION AND ATYR IS

ACTIVE IN THAT, TO MAKE SURE

PEOPLE KNEW THAT THIS TRIAL

MATTERED. REGARDLESS THE

OUTCOME. WE HAD A POSITIVE

OUTCOME AND THRILLED ABOUT THAT

BUT REGARDLESS, IT IS IMPORTANT

THAT THE TRIAL STAYED FRONT AND

CENTER. CREATED URGENCY AROUND

CONSIDERING WAYS WE MIGHT WANT

TO THINK ABOUT FOR FUTURE

DECENTRALIZATION OF CLINICAL

TRIALS. TRAVEL BECAME

COMPLICATED. PATIENTS AT RISK OF

CONTRACTING COVID ESPECIALLY

WHEN WE START THINKING ABOUT THE

SARCOIDOSIS COMMUNITY, THIS IS A

SERIOUS FACTOR TO PARTICIPATE.

WHETHER TO GO TO DOCTOR AT ALL,

THAT'S ONE MORE PLACE THEY HAD

TO GO OUT INTO THE COMMUNITY AND

THEY DIDN'T WANT TO RUN THAT

RISK. THAT BECAME A COMPLICATING

FACTOR FOR CLINICAL TRIALS. THE

PANDEMIC MADE THE NEED TO

CONSIDER SPECIFIC CHALLENGES FOR

THE UNDERSTAND SERVED

COMMUNITIES MORE SALIENT. FOR

YEARS UNDERSERVED POPULATIONS

HAVE HAD LIMITED ACCESS TO

CLINICAL TRIALS BECAUSE OF THE

TRANSPORTATION ISSUE, CONCERNS

WITH TAKING TIME OFF OR OTHER

FINANCIAL CONCERNS. THE PANDEMIC

HAS HIGHLIGHTED WHAT IS

BASICALLY AN OUTDATED PROCESS

RIGHT NOW IN OUR CURRENT

CLINICAL TRIAL MODEL.

>> THANKS. YOU MENTIONED

DECENTRALIZED TRIALS, DO YOU SEE

THAT POSSIBLY SOME LEARNINGS

FROM WHAT WORKED ON FOR

IMPROVING WAYS THAT RARE DISEASE

TRIALS ARE CONDUCTED? OVERALL?

>> YES, IT REALLY DOES PUT A

SPOTLIGHT ON THE NEED RIGHT NOW,

COVID HAS PUT A SPOTLIGHT ON THE

NEED RIGHT NOW. FOR FOCUSING ON

WHAT I THINK IS A GAPING HOLE IN

OUR HEALTHCARE SYSTEM. IN TRYING

TO ADDRESS IS THE NEEDS FOR

DECENTRALIZED CLINICAL TRIALS

THAT HELP WITH BROADER

DIVERSIFICATION OF TRIALS AND

MAKING SURE WE HAVE ALL VOICES

IN THESE TRIALS.

>> THAT LEADS TO MY NEXT

QUESTION FOR ERIKA. T WHY IS IT

IMPORTANT TO HAVE GOOD

REPRESENTATION IN CLINICAL

TRIALS? WHAT ARE SOME OF THE

CONSIDERATIONS THAT YOU THINK

ARE IMPORTANT FOR INDUSTRY TO

CONSIDER? A TO IMPROVE DIVERSITY

IN CLINICAL TRIALS?

>> IT IS IMPORTANT TO HAVE GOOD

REPRESENTATION IN CLINICAL

TRIALS BECAUSE NOT ALL

COMMUNITIES ASSESS OR NAVIGATE

THE DISEASE THE SAME WAY.

THERE'S SOME COMMUNITIES THE

STATES ARE MUCH HIGHER AND THE

CONSEQUENCE ARE MUCH DIRE. FOR

EXAMPLE, BLACK AMERICAN WOMEN

ARE THREE TIMES MORE LIKELY TO

DEVELOP SARCOIDOSIS THAN WHITE

MEN AND WOMEN. BLACK AMERICAN

WOMEN HAVE MORE SEVERE AND

CHRONIC FORMS OF SARCOIDOSIS AND

HIGHER RATES OF HOSPITALIZATION

AND MORTALITY. IT WOULD BE A

VALUE ADD TO THE CLINICAL TRIALS

TO HAVE EACH COMMUNITY PROPERLY

REPRESENTED ESPECIALLY THOSE

COMMUNITIES THAT SUFFER GREATER

HEALTH OUTCOMES. WHAT WE WANT TO

DO IS ACTUALLY GET PATIENTS TO

THE BRIDGE OR GATEWAY AND MEET

PHARMACEUTICAL COMPANIES WHERE

THEY WILL UNDERSTAND THAT TO

HAVE EACH COMMUNITY PROPERLY

REPRESENTED ESPECIALLY THOSE

LIKE BLACK WOMEN WHO SUFFER MORE

BARRIERS TO TREATMENT. THEY WILL

HAVE A BETTER CLINICAL TRIALS.

ONLY 20% HEALTH OUTCOMES ARE

DETERMINED BY SERVICES YOU

RECEIVE FROM YOUR P PCP AND

WITHIN THE CONFINES OF A

HOSPITAL. # 0% OF YOUR -- 80%

ARE DETERMINED BY DEMOGRAPHICS.

BLACK WOMEN NAVIGATE RACIAL

BARRIERS STEMMING FROM IMMR. I

SIT AND EXPLICIT BIASES ROOTED

IN STEREOTYPES AND

MISINFORMATION. AS WELL AS

FACTORS SUCH AS LOCATION OF HE

WANT EMPLOYMENT, TYPES OF

INSURANCE, WHO WORKS AT THE

CLINIC AND GENDER LAYER BARRIERS

STEMMING FROM INEQUITIES.

LAVESLY THERE ARE SOCIOECONOMIC

BURDENS BECAUSE BLACK WOMEN --

WE ARE STILL SIGNIFICANTLY

UNDERVALUED AND MAKE NOTICEABLY

LESS THAN OTHER ETHNIC GROUPS.

LOWER SOCIOECONOMIC STATUS WITH

INCOME, EMPLOYMENT OR EDUCATION

CAN RESULT IN DECREASE ACCESS TO

CARE OR CARE SPECIALIST. LACK OF

ACCESS TO MEDICATION, LACK OF

INSURANCE, SEVERE CHALLENGES

WERE BEING CONSISTENT WITH YOUR

APPOINTMENTS DUE TO

TRANSPORTATION, AND POOR

PROVIDERS PATIENT COMMUNICATION.

THOSE IN RESEARCH AND

PHARMACEUTICAL SPACES IMMEDIATE

TO CONSIDER HAVING DIVERSE

CLINICAL TRIALS AND AS A GATEWAY

TO LEARN MORE ABOUT

ACCESSIBILITY, AFFORDABILITY AND

THE POSSIBLY MONETARY BURDEN

ASSOCIATED WITH LONG TERM USE OF

DRUG SOLUTION FOR EVERY ETHNIC

COMMUNITY. FOR EXAMPLE IF A

WORKING BLACK AMERICAN MOTHER

HAS AGGRESSIVELY ACTIVE

SARCOIDOSIS, HOW CAN YOU MAKE

THE TRIAL ACCESSIBLE TO HER

WITHOUT TRANSPORTATION BURDEN?

HOW CAN THE DRUG BE DEVELOPED SO

IT IS NOT COST PROHIBITIVE? AND

WILL DRUG CHALLENGES BE EASILY

SOMATIC WITH EVERY DAY LIVING?

WHAT IS THE LEAD TIME FOR THE

DRUG TO KIKE -- KICK IN FOR

QUALITY OF LIFE IMPROVEMENT TO

BE FELT. ALL THESE PERMUTATIONS

AN OUTCOMES SHOULD BE EXPLORED

AND THAT IS WHY I SOUND LIKE A

BROKEN RECORD, FAIR TO HAVE ALL

COMMUNITIES REPRESENTED. MORE

IMPORTANTLY IT IS CRITICAL TO

HAVE THE IMMUNITY MOST ADVERSELY

EFFECTED REPRESENTED IN THE

TRIAL. MY THOUGHT PROCESS, HEART

FELT IS IF YOU TREAT MOST

VULNERABLE OF THOSE SUFFERING

FROM DISEASE IT BENEFITS ALL THE

PATIENTS WITH THE DISEASE.

>> SO GREAT, ERICA AND THAT

HONES IN ON THE KEY MESSAGE TO

PHARMACEUTICAL COMPANIES OR

BIOTECH TUNING IN TODAY LOOKING

TO RUN CLINICAL TRIALS IN RARE

DISEASE SPACE, REALLY SUCH AN

IMPORTANT MESSAGE ON THESE

CONSIDERATIONS THAT ERICA

REVIEWED. THANK YOU. BEFORE WE

END OUR SESSION I LIKE EACH OF

THE PANEL MEMBERS TO REALLY

TOUCH ON WHAT ARE THE LESSONINGS

LEARNED THAT INDUSTRY AND

ADVOCACY ORGANIZATIONS, SHOULD

BE AWARE OF TO ENSURE SUCCESSFUL

CLINICAL TRIALS RECRUITMENT. WE

CAN START WITH DR. SHUKLA.

>> CLEARLY GETTING INVOLVED

EARLY, CONSIDER SCARY TO DO

THAT, YOU MAY GET FEEDBACK YOU

MIGHT NOT LIKE, YOU MAY NOT FIT

A DEVELOPMENT PLAN YOU WORKED

OUT BUT GETTING INVOLVED EARLY

IS REALLY IMPORTANT. ALSO

UNDERSTANDING THAT WHEN YOU ARE

IN RARE DISEASE, TRICHA YOU SAID

THIS, THE COORDINATORS I THINK

WOULD HELP WITH FSR HAVING A

CLINICAL TRIAL NETWORK,

CONSORTIUM PEOPLE THAT REALLY

DEDICATED AT TRIAL SITE THAT WAS

HUGE. THAT IS SOMETHING I WANT

TO HIGHLIGHT HERE. THE LAST

COMPONENT HERE IS SPEAKING FOR

THE INDUSTRY SIDE, UNDERSTAND

THAT WHEN YOU ARE WORKING IN

RARE DISEASE, HOPE IS REAL

POWERFUL TOOL BUT ALSO SOMETHING

THAT COMES WITH A LOT OF -- YOU

HAVE TO BE CAREFUL ABOUT IT

WHICH MEANS BEING TRANSPARENT

ABOUT WHAT YOUR DRUG IS

POTENTIALLY DOING. HAVING THOSE

-- THAT DIALOGUE WITH PATIENTS

PROVIDERS, ADVOCACY GROUPS LIKE

FSR REALLY UNDERSTANDING WORKING

WITH THEM BECAUSE I THINK IT IS

VERY IMPORTANT FOR US TO NOT

TRADE ON THAT HOPE. WE HAVE A

RESPONSIBILITY TO SAY WE ARE

GOING TO DO THIS CAREFULLY. .

AND TEST THINGS RIGOROUSLY IN A

MANNER THAT IS MOST IMPORTANT

FRANKLY FOR THE PATIENTS WHICH

IS I THINK WAS OUR APPROACH, WE

PROBABLY STILL GET CRITICISM

ABOUT IT. BUT THAT IS OKAY

BECAUSE I THINK OUR OUTCOME

WOULDN'T BE AS DRAY MAT INK

UNLESS WE TOOK A COLLABORATIVE

APPROACH. I HOPE IT IS A MODEL

FOR OTHER ORGANIZATIONS REALLY

THINK ABOUT WORKING WITH GROUPS

LIKE FSR, REALLY EARLY ON

UNDERSTANDING RESPONSIBILITY TO

HAVE AND HELPS IF THERE IS ALSO

TIGHT MET WORK.

>> TRICHA.

>> THANK YOU SO MUCH, I WANT TO

ECHO WHAT DR. SHUKLA SAID WITH

REGARD TO HOPE. HOPE IS VITALLY

IMPORTANT AND IT DOES NEED TO BE

TREATED WITH KID GLOVES AND BE

CAREFUL BECAUSE IT IS A CENTRAL

PIECE TO WHAT HELPS PATIENTS GET

THROUGH EVERY DAY, WHEN LIVING

WITH SEVERE CHRONIC ILLNESSES.

SO ONE OF THE THINGS I THINK FOR

PATIENT ADVOCACY ORGANIZATIONS

AS YOU ARE LOOKING AT THIS, IS

TO HELP PEOPLE UNDERSTAND THAT

CLINICAL TRIALS ARE HOPE AND

EVEN WHETHER OR NOT A CLINICAL

TRIAL IS SUCCESSFUL, THE HOPE IS

IN THE LEARNINGS. AND THE HOPE

ISN'T ALWAYS IN THE OUTCOME.

AND THAT IS A BIG PART OF THE

EDUCATION AND THE ROLE THAT WE

PLAY, IN THE ADVOCACY

ORGANIZATION TO HELP UNDERSTAND

WE CAN BUILD ON LEARNINGS

REGARDLESS WHETHER A TRIAL IS

SUCCESSFUL OR NOT, WE CAN BUILD

LEARNINGS AND MOVE TOWARDS

BETTER FUTURE. AGAIN THEY DID A

WONDERFUL JOB AND HAD A

SUCCESSFUL TRIAL BUT WHETHER

THAT -- THIS TRIAL WAS

SUCCESSFUL OR NOT THERE WAS

LEARNINGS THEY WOULD HAVE BEEN

ABLE TO BUILD ON. AND THAT IS

WHERE HOPE LIES SO I THANK YOU

DR. SHUKLA FOR BRINGING THAT UP,

IT IS REALLY IMPORTANT TO MAKE

SURE THAT WE TREAT THAT HOPE

CAREFULLY. IF I COULD ONLY

PROVIDE ONE TAKE AWAY TO THE

INDUSTRY AND ONE TAKE AWAY TO

ADVOCACY, I GUESS I WOULD SAY TO

INDUSTRY IT IS IMPORTANT TO MAKE

SURE WE BRING IN ADVOCACY

ORGANIZATIONS EARLY AND THAT THE

COMMUNICATION WITH THE ADVOCACY

ORGANIZATIONS IS EVERY STEP OF

THE WAY. NOT JUST A QUICK EARLY

CHECK SEE WHERE YOU ARE AND

LATER ON A CHECK BUT KEEPING THE

ADVOCACY ORGANIZATIONS INVOLVED

AND HAVING THAT CONSTANT

COMMUNICATION. AND FOR FOR THE

ADVOCACY ORGANIZATIONS I WOULD

SAY RAISE YOUR HAND. RAISE YOUR

VOICE AND BE HEARD. IT IS

IMPORTANT TO EXPLAIN AND LET THE

PHARMACEUTICAL COMPANIES KNOW

YOU ARE HERE YOU ARE SUPPORTING

THEIR EFFORTS TO SUPPORT YOUR

COMMUNITY, AND YOU WANTED HEM TO

HEAR WHAT THE PATIENTS NEED TO

SAY. IT IS ESSENTIAL FOR

INDUSTRY AND ADVOCACY

ORGANIZATIONS TO HAVE THIS TRUE

PARTNERSHIP IN THE PROCESS. AS

WE WERE TALKING ABOUT BEFORE AND

I THINK THIS IS REALLY THE TAKE

HOME FROM MY PERSPECTIVE, IF YOU

WANT TO BUILD TRUST IT HAS TO BE

DONE TOGETHER.

>> THANK YOU

>> TRICHA. ERIKA, HOW ABOUT YOU?

>> MY BIG TAKE AWAY IS PATIENTS

EXPERIENCE IS IS IT VALUABLE TO

HELPING RESEARCHERS AND

PHARMACEUTICAL COMPANIES CREATE

SOLUTIONS FOR RARE DISEASES, IT

IS CRITICAL TO BE INTENTIONAL,

BRINGING PATIENTS IN WITH

DIVERSE BACKGROUNDS TO THE

TABLE, AS A BLACK AMERICAN WOMAN

LIVING WITH SARCOIDOSIS A

CONSIDER A CLINICAL TRIAL THAT

WAS ACCESS ACCESSIBLE, IN

MULTIPLE LOCATIONS THAT HAD

CONSISTENT CHECK INs FOR

PATIENTS TO DISCUSS NOT ONLY

THEIR REACTION TO THE DRUG BUT

THEIR MENTAL HEALTH STATUS WHILE

GOING THROUGH THE TRIAL AND THE

PROCESS. AND BE READY TO ENGAGE

IN TRIAL AS A STAKEHOLDER AND

READILY ACKNOWLEDGE DISPARITIES

AND CARE IN TREATMENT FROM MY

RACIAL ETHNIC COMMUNITY. AND I

WANT TO PARTICIPATE IN IN A

CLINICAL TRIAL WHERE I WAS MORE

THAN A DATA POINT, I WAS SEEN AS

TRUE PARTNER IN PROCESS TO

IMPROVE QUALITY OF LIFE OF THOSE

LIVING WITH SARCOIDOSIS.

THEREFORE IT IS IMPERATIVE THAT

ALL COMMUNITIES ARE REPRESENTED

AND ALL DISPARITIES CONSIDERED.

>> GREAT. THANK YOU, ERICA.

THANK YOU, DR. SHUKLA, TRICHA

AND ALL WHO JOINED TODAY. WE

CERTAINLY HAD CHALLENGING TIMES

WITH THE PANDEMIC. LOTS OF GREAT

LESSONS HERE TODAY AND ADVICE

FOR CLINICAL TRIAL RECRUITMENT

SUCCESS MANY THE FUTURE. WE HAVE

TO REMEMBER IT IS SO IMPORTANT

TO UNDERSTAND ALL STAKEHOLDERS.

PATIENTS, PATIENT ADVOCATES, THE

ENTIRE COMMUNITY WHICH ALSO

INCLUDES CAREGIVERS AND CARE

PARTNERS. THEY ARE ALL SUCH

IMPORTANT STAKEHOLDERS IN THE

RARE DISEASE SPACE. FOR

SUCCESSFUL DRUG DEVELOPMENT.

FEEL FREE TO REACH OUT TO US

DIRECTLY WITH ANY QUESTIONS YOU

MAY HAVE AND THANK YOU AGAIN FOR

JOINING OUR SESSION.

>> I'M EXECUTIVE DIRECTOR OF THE

CURE JM FOUNDATION AND HONORED

TO BE YOUR HOST AT NIH. OUR

OBJECTIVE TODAY IS TO SHARE WITH

YOU THE STORY HOW ONE SMALL RARE

DISEASE ORGANIZATION THAT FUNDS

RESEARCH TO FIND BETTER

TREATMENTS AND A CURE HAS HAD AN

OUTSIZED IMPACT IN PART TO

CREATING EFFECTIVE PARTNERSHIPS

WITH LEADING RESEARCH HOSPITALS

AND MOST FLOAT WITH NIH. I WILL

START WITH A ONE MINUTE

BACKGROUND OF WHO WE ARE AND HOW

WE EVOLVED TO WHERE WE ARE

TODAY. WE WERE CREATED BY A

SMALL GROUP OF PARENTS AND GRAND

PARENTS IN 2003 TO ADDRESS THE

FACT THAT VERY LITTLE WAS

UNDERSTOOD ABOUT JUVENILE

MYOSITIS. A DEVASTATING

AUTOIMMUNE DISEASE WHERE BODY

IMMUNE SYSTEM ATTACKS ITS OWN

CELLS AND TISSUES. THROUGH JJM

MISSION THEN AROUND NOW IS TO

FIND BETTER MISSION FOR JM

AROUND SUPPORT FAMILIES LIVERING

WITH JUVENILE MYOSITIS. WHERE

DOES ONE START AT VIRTUAL GROUND

ZERO? WE KNEW WE HAD TO

ACCOMPLISH THREE OBJECTIVES IF

WE WERE TO BE SUCCESSFUL. FIRST

WE HAD TO RECRUIT OTHER FAMILIES

AND INVOLVE AND CURE JM'S WORK

BECAUSE THERE IS STRENGTH IN

NUMBERS AND HAVING EACH OTHER

FOR SUPPORT. SECOND WE HAD TO

BRING WHATEVER MEDICAL AND

RESEARCH EXPERTS WE COULD FIND

INSIDE OUR TENT. IN 2003 THERE

WERE ONLY VERY FEW OF THEM BUT

WE WERE FORTUNATE IN OUR EARLY

YEARS TO FIND TWO OF THEM, DR.

LAUREN LISA RIDER WITH DR. FRED

RIDER HERE AT NIH. WE NEEDED TO

CREATE LASTING SUSTAINABLE

PARTNERSHIPS WITH INSTITUTIONS

LIKE THE NIH, TO LEVERAGE THE

ENORMOUS RESEARCH CAPACITY THAT

THEY HAVE. WHAT WE DIDN'T KNOW

AT LEAST AT THE TIME WAS THE

EXTRAORDINARY PERSONAL AND

PROFESSIONAL COMMITMENT NIH

RESEARCHERS AND CLINICIANS BRING

TO YOU ARE RARE DISEASE CAUSE.

WHICH BRINGS US TO THE FIRST

PRESENTER DR. LISA RIDER. DR.

RIDER IS HEAD OF ENVIRONMENTAL

AUTO-IMMUNITY GROUP AT THE

NATIONAL INSTITUTE OF

ENVIRONMENTAL HEALTH SCIENCES AT

NIH IN BETHESDA, MARYLAND. DR.

RIDE IRWAS EARLY PIONEER IN

MYOSITIS RESEARCH AND IS ONE OF

THE WORLD'S FOREMOST ZYSIGHTIS

EX-- MYOSITIS EXPERTS. IN OF OUR

FAMILIES, NO EXAGGERATION,

CREDIT DR. RIDER WITH SAVING THE

LIVES OF THEIR CHILDREN. HERE TO

SHARE WITH YOU HER PERSPECTIVE

ON THE CURE JM NIH PARTNERSHIP

IS DR. LISA RIDER.

>> THANK YOU, JIM FOR THAT WARM

INTRODUCTION. GREAT PLEASURE TO

JOIN WITH YOU TODAY IN THIS NIH

RARE DISEASE DAY SESSION. TO

REVIEW OUR ENVIRONMENTAL

IMMUNITY GROUP HAS FOCUSED ON

UNDERSTANDING ROLE OF

ENVIRONMENT AND GENES DISEASE

MECHANISMS AND THE ASSESSMENT

AND TREATMENT OF MYOSITIS AND

OTHER SYSTEMIC AUTOIMMUNE

DISEASES IN ADULTS AND CHILDREN.

OUR GOAL HAS BEEN TO DEVELOP

TARGETED THERAPIES DIRECTED TO

PATHOMECHANISMS OF DISEASE

PHENOTYPES WITH A PROMISE OF

INHIBITING THE EFFECT OF

DIFFERENT ENVIRONMENTAL FACTORS.

WE HAVE DONE A NUMBER OF STUDIES

HERE AT THE NIH CLINICAL CENTER

IN BETHESDA, INCLUDING SEVERAL

NATURAL HISTORY STUDIES THAT

HAVE EXAMINED THE ROLE OF

ENVIRONMENTAL GENETIC FACTORS ON

AUTOIMMUNE DISEASE PARTICULARLY

MYOSITIS AS WELL AS SEVERAL

TREATMENT STUDIES INCLUDING THAT

OF RETUXIMAB IN MYOSITIS AND

BIOLOGIC THERAPY AND CURRENTLY

ENROLLING STUDY OF IB SODIUM

SULFATE FOR THE TREATMENT

OVERCALLS KNOWSIS ASSOCIATED

WITH JUVENILE NILE AND ADULT

MYOSITIS. NO WONDER THROUGH THE

PARTNERSHIP WITH CURE JM MORE

THAN HALF THE PATIENTS VAN

PATIENTS WITH JUVENILE MYOSITIS.

THANKS TO THEIR REFERRALS.

REALLY THIS PARTNERSHIP WITH

CURE JM HAS BEEN VIEW MENTAL IN

EXPANDING OUR FOCUS ON JUVENILE

MYOSITIS RESEARCH BOTH WITHIN

EHE AND AT THE NIH. FIRST CURE

JM SUPPORTED TRAINING AND AND OR

E RESEARCH OF SEVERAL FOLLOWS

INCLUDING STARTING WITH NOROVA

NOW A RESEARCH ASSOCIATE AT

GEORGE WASHINGTON UNIVERSITY IN

MYOSITIS CENTER THERE. HANNAH

KIM WHOSE WORK ON PROTEOMICS AND

BIOMARKER RESEARCH WAS SUPPORTED

THROUGH HER WORK IN NIPPLES. AND

(INDISCERNIBLE) PEDIATRIC

RHEUMATOLOGIST FROM JAPAN AS

WELL AS RESEARCH PILLOW WITH ME

WHO IS NOW AT MEDICAL COLLEGE OF

WISCONSIN AND MANY OF THESE

TRAINEES ARE FOCUSED NOW ON

JUVENILE MYOSITIS RESEARCH AND

CLINICAL CARE. CARE JM FUNDED

SEVERAL KEY COLLABORATIONS IN

OUR WORK INCLUDING SUPPORT FOR

INTERNATIONAL MYOSITIS

CONSORTIUM, CARE J M PROVIDED

FUNDING FOR WORK OF STUDY OF

GWAS AND EXOME CHIP IN PATIENTS

WITH JUVENILE DEMAT TOE

MYOSITIS, AS WELL AS SEVERAL

OTHER RISK FACTORS. CURE JM HAS

MORE RECENTLY FUNDED THE

POST-DOCTORAL RESEARCH

FELLOWSHIP OF TRAVIS KINDER

WITHIN NCATS, THAT GROUP HAS

GONE ON TO DEVELOP ASSAYS TO

ASSESS MOLECULAR HALLMARKS OF

MYOSITIS IN A TEST TUBE AND

SCREEN LARGE NUMBERS OF APPROVED

DRUGS ANDVATIONAL AGENTS WITH

THE HOPE OF IDENTIFYING NEW

DRUGS THAT MAY HELP JM PATIENTS.

THEN CURE JM ALSO WAS KEY

PARTNER IN INTERNATIONAL

MYOSITIS ASSESSMENT STUDIES

GROUP PARTICULARLY IN

DEVELOPMENT OF NEW RESPONSE

CRITERIA FOR ADULT AND JUVENILE

MYOSITIS. INTERNATIONAL

MULTI-DISCIPLINARY CONSORTIUM

THAT USES GLOBAL APPROACH TO

IMPROVE TREATMENT AND

UNDERSTANDING MYOSITIS AND CURE

JM WAS KEY IN FUNDING A PORTION

OF THE ANALYSES AND EVEN

CONSENSUS CONFERENCE TO DEVELOP

THESE NEW RESPONSE CRITERIA. AND

OUT OF THAT WORK THE ACR

RESPONSE CRITERIA WERE DEVELOPED

AND ARE NOW USED AS THE PLY MARE

END POINT FOR MYOSITIS CLINICAL

TRIALS. LEADING TO THE EXPANSION

NEW THERAPIES BEING STUDIED

MYOSITIS. AND DEVELOPED. AND

THIS WORK REALLY CAME TO BE

RECOGNIZED BY GLOBAL GENES

THROUGH RARE CHAMPION OF HOPE

AWARD FOR RESEARCH COLLABORATION

WHICH FRED MILLER AND I WERE

FORTUNATE TO RECEIVE IN THE

PRESENCE OF SHERRY HUMAN, ONE OF

THE FOUNDERS OF THE CURE JM.

CURE JM PARTNERED WITH FORMING

THE GW MYOSITIS CENTER, A CENTER

WHERE HANNAH KIM AND I AND LJ

JONES ATTENDED IN CLINIC ADULT

RHEUMATOLOGIST TO CONSULT

PATIENTS WITH JUVENILE MYOSITIS.

THIS IS A CLOSE COLLABORATION

BETWEEN GEORGE WASHINGTON

UNIVERSITY NIH AND CURE JM. WE

ARE ALSO PERFORMING JOINT

RESEARCH STUDIES AS WELL

INCLUDING CLINICAL TRIAL

DEVELOPING A NEW BIOLOGIC

THERAPY FOR JUVENILE MYOSITIS

PATIENTS. WE HAVE ALSO EDUCATED

A LARGE NUMBER OF ADULT

PEDIATRIC RHEUMATOLOGY TRAINEES

IN THE CLINIC, FELLOWS RESIDENTS

MEDICAL STUDENTS AND VISITING

FACULTY. THESE ALL HAVE BEEN

ABLE TO PROVIDE EXCELLENT

CLINICAL CARE GOING FORWARD FOR

PATIENTS WITH JUVENILE MYOSITIS.

OUR WORK IS SUMMARIZED IN THE

PROCLAMATION OF THANKS DELIVERED

TO US AT THE LAST NIH RARE

DISEASE DAY, GIVING HIS THANKS

TO NCATS, NIPPLES AND GROUP IN

NIEHS FOR THE WORK WE HAVE DONE.

IT WAS DEDICATION OF PARTNERSHIP

OF CURE JM WITH NIH, THIS

PROCLAMATION THAT LEADS US TO

KEEP SITE ON IMPORTANCE OF

FINDING BETTER TREATMENTS AND

CURE FOR PATIENTS WITH JUVENILE

MYOSITIS AND SUPPORTING FAMILIES

OF THOSE WHO LIVED WITH JUVENILE

MYOSITIS. THAT -- THIS PARTNER

SHIP IS VERY KEY TO THIS WORK.

THANK YOU.

>> THANK YOU, DR. RIDER. I'LL

RETURN WITH A QUESTION FOR DR.

RIDER AND THEN HAVE A CHANCE FOR

AUDIENCE QUESTIONS AS WELL. IF

YOU HAVE A QUESTION FOR DR.

RIDER POST IN THE EVENT AT Q&A

NOW. EARLIER I MENTIONED THE

IMPORTANCE OF INVOLVING FAMILIES

IN EVERYTHING WE DO AS A

NON-PROFIT ESPECIALLY RESEARCH.

OUR NEXT GUESTS ARE CHRISTINE

ALDERFER, 12 YEAR VOLUNTEER WITH

CURE JM AND HER DAUGHTER

KATHERINE WHO WAS DIAGNOSED WITH

JUVENILE MYOSITIS AT AGE 4 AND

REMAINS IN TREATMENT TODAY.

CHRISTINE HAS TAKEN THE LEAD ON

MANY VOLUNTARY DRIVEN

INITIATIVES OVER THE YEARS. AND

HAS MOST RECENTLY BEEN ELECTED

PRESIDENT OF CURE JM BOARD OF

DIRECTORS. CHRISTINE, I WILL

START WITH YOU. FROM PARENTS'

PERSPECTIVE WHY ARE RESEARCH

PARTNERSHIPS WITH INSTITUTIONS

LIKE THE NIH SO IMPORTANT TO

YOU?

>> THANK YOU, JIM, IN MY VIEW

RARE DISEASE ORGANIZATIONS NEED

TO FOCUS ON DISCOVERY OF BETTER

TREATMENT. I DON'T MEAN TO TELL

ANYONE AT THIS SESSION MOST RARE

DISEASES DON'T HAVE APPROVED

TREATMENTS. TO CURE JM IT MADE

SENSE TO PARTNER WITH RESEARCH

INSTITUTIONS AND WITH H NIH

PERHAPS MOST PREEMINENT RESEARCH

INSTITUTION IN THE WORLD. WE

WERE FORT MAT TO FIND DR. RIDERS

AND DR. MILLER'S LAB HAD BEEN

CONDUCTING SOME IMPORTANT BASIC

RESEARCH INTO CAUSES OF

MYOSITIS. DR. RIDER GRACIOUSLY

AGREED TO JOIN MEDICAL ADVISORY

BOARD AND OVER TIME WITH HELP

FROM FUNDING DIRECT MORE

RESEARCH JUVENILE MYOSITIS

DIRECTLY. AS SHE SAID, WE WERE

ALSO ABLE TO RECRUIT FELLOWS TO

SUPPORT JM SPECIFIC RESEARCH

PROJECTS LIKE THE ONE KATHERINE

PARTICIPATED? .

>> KATHERINE, YOU ARE NOW 15 AND

LIVERING WITH THE DISEASE MORE

THAN A DECADE. FROM A PATIENT

PERSPECTIVE WHAT DOES RESEARCH

AROUND PARTICIPATION MEAN TO

YOU? FROM

>> THANK YOU FOR HAVING ME

TODAY. IN MARCH OF 2010, I

DEVELOPED A STRANGE RASH. MY

PARENTS THOUGHT IT WAS AN

ALLERGY TO SOMETHING. MY MOM

CHANGED ALL THE BEDDING, SOAPS

AND ANYTHING ELSE THAT WOULD

HAVE CAUSED THIS AWFUL RASH.

PEOPLE SOP ME IN THE STORES AND

TELL MY MILLIMETER TO USE

SUNSCREEN ME, I BECAME CRANKY

TIRED IRRITABLE AND FATIGUED.

ONE DAY I COULD WALK UP THE

STAIRS IN OUR HOUSE AND THE NEXT

DAY I COULDN'T. I STARTED

CHOKING ON MY FOOD. MY PARENTS

PUSHED DOCTORS TO TELL US WHAT

WAS HAPPENING TO ME. IT TOOK

MONTHS AND MANY APPOINTMENTS TO

MAKE PROGRESS JUST DAYS A OF MY

FOURTH BIRTHDAY I WAS DIAGNOSED

WITH JUVENILE MYOSITIS. MY

PARENTS NEVER HEARD OF IT AND

DID A GOOGLE SEARCH WHICH SHOWED

HOW TERRIBLE THE DIAGNOSIS WAS.

WE RECEIVED ACAL FROM RILEY

HOSPITAL FOR CHILDREN IN

INDIANAPOLIS. MY PARENTS PACKED

A BAG AND HEAD FORD THE ER.

FROM THIS DAY FORWARD, OUR LIVES

WOULD NEVER BE THE SAME. I WAS

DIAGNOSED WITH THIS RARE

DISEASE, A DISEASE FOR WHICH

THERE IS NO CURE. A DISEASE

WHICH BODY ATTACKS ITSELF. WHEN

YOUR MUSCLES ARE ATTACKED THE

DAMAGE IS PERMANENT. MY MUSCLES

WERE BEING DESTROY AND I WAS

FAILING MORE EVERY DAY. I WAS

ADMITTED IMMEDIATELY AND STARTED

TREATMENT TO HELP. THEY STARTED

ME ON MASSIVE DOSE STEROIDS AND

CHEMOTHERAPY. I WAS FOUR AND

MISERABLE. IT WAS THE BEGINNING

OF 12 YEARS OF MANY INFUSION

TREATMENTS HOSPITAL STAYS ORAL

MEDS, AND TRYING TO FIGURE

THINGS OUT. LUCKILY MY MOM FOUND

DR. RIDER THROUGH THE CURE JM

FOUNDATION AND FIGURED A

TREATMENT PROTOCOL TO HELP ME.

MY FRIENDS SISTER BOTH

PARTICIPATED IN STUDIES WITH THE

NIH AND I HAVE BEEN SEEN AT

THEIR CLINICS SEVERAL TIMES. I'M

THANKFUL AND SO GLAD CURE JM

SUPPORTS RESEARCH IN THOSE

CLINICS. PARTICIPATING IN

RESEARCH STUDIES IS SOMETHING

PATIENT VERSUS TO DO IF WE ARE

EVER GOING TO FIND A CURE FOR

ALL RARE DISEASES. SOME KIDS

WITH JM GET BETTER FASTERS

BECAUSE THERE ARE EXISTING

TREATMENTS THAT WORK BETTER THAN

OTHERS. I HAVE TO BELIEVE NIH

RESEARCH WILL LEAD TO BETTER

TREATMENTS. THAT IS ONE REASON

I'M INVOLVED IN THE RESEARCH.

DR. RIDER AND OTHERS CAN'T DO

THE WORK WITHOUT US. WHEN YOU

OUTTAKE PART IN RESEARCH WE ARE

BUILDING OUR OWN FUTURE. IT IS

VERY EMPOWERING.

>> KATHERINE, HOW DID IT FEEL

WHEN YOU GO TO NIH AND

PARTICIPATE IN ONE OF DR. RIDERS

OR THE OTHER DOCTOR'S RESEARCH

STUDIES?

>> I REALLY FELT LIKE SOMEONE

WAS LOOKING OUT FOR ME. JUVENILE

MYOSITIS IS A DIFFERENT DISEASE

FOR EACH KID WHO HAS IT. IT IS

SAID NO TWO KIDS ARE THE SAME.

AND THE DOCTORS AND RESEARCHERS

AT NIH HAD ALREADY FIGURED THAT

OUT. SO WHILE IT CAN BE SCARY

TO BE IN RESEARCH STUDY, IT'S

REASSURING TO KNOW YOU ARE

HELPING OTHERS AND THAT YOU

MIGHT JUST HELP YOURSELF AS

WELL. DR. RIDE EARS KNOWLEDGE

AND CARE SAVED MANY LIVES OVER

THE YEARS AND MIGHT HAVE SAVED

MINE AS WELL.

>> CHRISTINE, WHAT ADVICE WOULD

YOU HAVE FOR ANYONE IN THE

AUDIENCE WHO WANTS TO DEVELOP A

RESEARCH RELATIONSHIP WITH NIH?

SPRUCES

>> IF YOU DON'T ALREADY HAVE A

CONTACT OF SOME KIND AT THE NIH

START AT THE WEB AND SEE WHICH

OF THE NIH 27 INSTITUTES OR

CENTERS MIGHT BEST RELATES TO

YOUR RARE DISEASE. YOU CAN

SEARCH RARE DISEASE AT THE NIH

GENETIC RARE DISEASE INFORMATION

CENTER THAT YOU HEARD ABOUT

BEFORE THIS SESSION. YOU CAN

REACH THE SPECIALIST THERE AT AT

THE GARD INFORMATION CENTER AND

THEY HAVE A VIRTUAL EXHIBIT HERE

AT THE CONFERENCE SO FEEL FREE

TO SRI THEM AT THEIR BOOTH. --

VISIT THEM AT THEIR BOOTH.

ANOTHER RESEARCH AVAILABLE IS

NIH REPORTER WHICH YOU CAN FIND

AT REPORTER.NIH.GOV. YOU CAN

ENTER YOUR DISEASE AND FIND

RESEARCHERS STUDYING YOUR RARE

DISEASE AS WELL AS NIH ICs

FUNDING RESEARCH IN YOUR

DISEASE. THE OFFICE OF PATIENT

RECRUITMENT AT THE NIH CLINICAL

CENTER CAN HELP YOU WITH

CLINICAL TRIAL PARTICIPATION,

JUST A MATTER OF REACHING OUT TO

THE INFORMATION SPECIALIST TO

CONNECT. YOU CAN FIND PAPERS

PUBLISHD BY RESEARCHERS OUTSIDE

THE THE NIH AND CONNECT WITH

THEM. WE HAVE FOUND THAT THE

STAFF IS VERY RESPONSIVE AT THE

NIH WHETHER OR NOT CURE JM WAS

SUPPORTING THE PROJECT. LET ME

ADD MANY PROJECT MOVE FORWARD IN

YOUR DISEASE WITH SUPPLEMENTAL

FUNDING. EVEN IF SMALL

SUPPLEMENTAL GRANT INFLUENCE

DIRECTION OF THE RESEARCH

PROJECT, IF THE GRANT OBJECTIVES

MAKES SENSE TO RESEARCHER. I

BELIEVE CURE JM'S FIRST SUPPORT

OF NIH WAS SOMEWHERE AROUND

$25,000.

>> DR. RIDER, OTHER THAN GRANT

FUNDING, WHAT DO YOU THINK NIH

RESEARCHERS VALUE MOST IN

PARTNERSHIPS WITH NON-PROFITS?

>> JIM, I THINK IT RELATES A LOT

TO WHAT YOU HAVE SAID IN IN IN

YOUR OPENING REMARKS, BRINGING

IN FAMILIES AND FINDING A

NETWORK OF MUTUAL SUPPORT, TRUE

STRENGTH IN NUMBERS. CURE JM IS

EXTREMELY SUCCESSFUL IN ENGAGING

FAMILIES AND WE WERE ABLE TO

TRANSLATE THAT ENGAGEMENT TO

RESEARCH PARTICIPATION.

KATHERINE IS A GREAT EXAMPLE OF

THAT. AND REALLY HER OUTCOME AND

HOW SHE HAS DONE WITH HER

ILLNESS IS HEARTENING TO SEE

THROUGH THE YEARS. THAT MAKES

CURE JM AN IMPORTANT PARTNER

MORE THAN RESEARCH GRANT

FUNDING.

>> THANK YOU, DR. RIDE IRAND

THANK YOU KATHERINE AND

CHRISTINE FOR BEING WITH US IN

THIS SESSION. I HOPE THE

AUDIENCE FOUND IT INFORMATIVE

AND WE HAVE RECEIVED MANY

QUESTIONS ON THE Q&A, WE HAVE

USED UP OUR ALLOTTED TIME FOR

THIS PARTICULAR SESSION BUT

WE'LL GET BACK TO Y'ALL

INDIVIDUALLY WITH YOUR QUESTIONS

AS THEY COME IN AND HOPE YOU

HAVE FOUND THIS SESSION TO BE

VALUABLE INFORMATIVE AND

HOPEFULLY INSPIRING ABOUT THE

KINDS OF ACTIVITIES AND ACTIONS

YOU CAN TAKE WITH YOUR OWN

NON-PROFIT OR IF YOU ARE

THINKING OF STARTING A

NON-PROFIT WITH THE NIH OR OTHER

RESEARCH INSTITUTIONS AS

IMPORTANT PARTNERS. THANK YOU.

DECARBOXYLASE.

>> I'M TONI PEARSON, THANKS TO

NCATS FOR THE OPPORTUNITY TO

TALK WITH YOU TODAY ABOUT OUR

EXPERIENCE WITH NATURAL HISTORY

DATA COLLECTION FOR GENE THERAPY

CLINICAL TRIAL FOR AADC

DEFICIENCY. THE OUTLINE OF THE

SESSION WILL BE THAT I WILL

SPEAK FIRST FOR ABOUT TEN

MINUTES OR SO, THEN TELL YOU A

LITTLE BIT ABOUT AADC DEFICIENCY

, AND GENE THERAPY

CLINICAL TRIAL WHICH WE HAVE

BEEN RUNNING WITH NINDS SUPPORT

THE PAST FIVE YEARS. I WILL ALSO

SPEAK ABOUT OUR EXPERIENCE WITH

NATURAL HISTORY DATA COLLECTION

PART OF THAT STUDY. AND THEN WE

WILL BE HAPPY TO INTRODUCE

PARENT OF A CHILD WHOSE

PARTICIPATED IN OUR STUDY AS

WELL, SHILLAN RODRIGUEZ PENA. AT

THE END WE'LL HAVE FEW MINUTES

FOR DISCUSSION WE HOPE AND ALSO

FOR THOSE WHO MIGHT BE WATCHING

THIS ON THE LIVE STREAM DAY WE

WILL BE AVAILABLE TO TAKE

QUESTIONS THROUGH THE WEBSITE

AFTER THE SESSION AS WELL. AS A

BRIEF INTRODUCTION AADC

DEFICIENCY IS ULTRA RARE GENETIC

NEURODEVELOPMENTAL DISORDER.

THERE ARE APPROXIMATELY 150

REPORTED CASES IN THE -- AND

MORE DIAGNOSED BUT THE NUMBER IS

IN THE HUNDREDS WORLDWIDE. THE

UNDERLYING CAUSE OF THE DISEASE

IS THAT THE BRAIN LACKS THE AADC

ENZYME NEEDED TO MAKE DOPAMINE

AND SEROTONIN, TWO VERY

IMPORTANT NEUROTRANSMITTERS IN

THE BRAIN. AND THE DISEASE

STARTS TYPICALLY IN INFANCY WITH

SYMPTOMS THAT INCLUDE OCULAR

DIRECT CRISES WHICH IS YOU CAN

SEE ON THE VIDEO HERE, A YOUNG

BOY HAVING A CRISIS, WITH

INVOLUNTARY MOVEMENTS OF THE

EYES, THE HEAD AND WHOLE BODY

THEY ARE QUITE DISTRESSING

EPISODES THAT CAN LAST A NUMBER

OF HOURS, BABIES ALSO HAVE

TYPICALLY LOW MUSCLE TONE, NO

RANGE IN VOLUNTARY MOVEMENT AND

SLEEPING MOOD DISTURBANCE ALONG

WITH OTHER SYMPTOMS. AND THE

DISEASE ALSO HAS A SIGNIFICANT

IMPACT ON MOTOR AND INTELLECTUAL

DEVELOPMENT WITH MOST PATIENTS

WHO HAVE BEEN REPORTED TO DATE

HAVING MODERATE TO SEVERE

IMPAIRMENT IN DEVELOPMENT.

MEDICATION FOR THIS CONDITION

ARE TYPICALLY NOT EFFECTIVE SO

IT HAS BEEN DIFFICULT DISEASE TO

TREAT FOR A LONG TIME. SO GENE

THERAPY USING AADC GENE VECTOR

TO A PLACE -- REPLACE AADC

FUNCTION INITIALLY STARTED A

NUMBER OF YEARS AGO ACTUALLY AS

A TREATMENT STRATEGY FOR

PARKINSON'S DISEASE. AND THERE

WAS SOME PUBLICATIONS FIRST

PUBLICATIONS FOR THOSE FROM

2008, 2009 AND AS YOU CAN

IMAGINE MANY YEARS OF

PRE-CLINICAL WORK BEFORE THAT.

IT IS OBVIOUSLY A CANDIDATE GOOD

STRATEGY TO TREAT AADC

DEFICIENCY AND AFTER SEVERAL

YEARS OF WORK TO DEVELOP

TREATMENT STRATEGY THAT WOULD BE

APPROPRIATE FOR CHILDREN WITH

AADC DEFICIENCY WE STARTED AN

NINDS SPONSORED PHASE 1, 2 TRIAL

IN 2016 AND THE PI IS

(INDISCERNIBLE). IN THIS STUDY

WHAT WE ARE DOING AS YOU CAN SEE

IT WAS AN MRI SCAN OF THE BRAIN

OF ONE OF OUR PATIENTS, THE GOAL

IS TO DO A NEUROSURGICAL

PROCEDURE THAT DELIVERS INFUSION

OF AADC GENE VECTOR INTO THE MID

BRAIN, DEEP INTO THE CENTER OF

THE BRAIN. AND THE INITIAL

SEVEN PATIENTS WHO WERE ENROLLED

IN THAT TRIAL ARE DESCRIBED IN

PUBLICATION THAT CAME OUT IN

2021. WE ARE NOW CONTINUING TO

ENROLL FOR THE PATIENT --

FURTHER PATIENTS IN THE NEXT

PHASE OF THIS CLINICAL TRIAL.

SO AS WE WERE DEVELOPING THE

STUDY PRIOR TO STARTING IN 2016

ONE OF THE IMPORTANT QUESTIONS

THAT COME UP FOR CLINICAL

TRIALS, WHAT MEASURES ARE

RELEVANT TO MEASURE CLINICAL

CHANGES? WE WERE FORTUNATE TO

HAVE GREAT RESOURCE OF THE ADC

RESEARCH TRUST IN THE COMMUNITY

OF FAMILIES INTERNATIONALLY, WHO

HELPED ANSWER THIS QUESTION AT

FAMILY MEETING IN 2014 WHEN I

PUT A QUESTION TO PARENTS TO ASK

WHAT CHALLENGESTHEY FACE WITH

THEIR CHILDREN AND WHICH WERE

BIGGEST TO EM THIS. TWO STOOD

OUT. WHEN WE DID THIS BECAUSE IT

IS CLEARLY CLINICIANS WE THINK

WE HAVE AN IDEA ABOUT WHAT

SYMPTOMS ARE IMPORTANT TO

PATIENTS AND FAMILIES, IT IS

ALWAYS A GOOD IDEA TO HAVE

FAMILIES AGREE. SO ONE OF THE

SYMPTOMS THAT WAS MENTIONED WAS

I DESCRIBED AND SHARE AD VIDEO

FOR EARLIER, THE OTHER MAIN

POINT EMERGED FROM THIS QUESTION

SESSION WAS MOTOR DISABLE, LEVEL

OF MOTOR DIS DISABILITY OR

DEVELOPMENTAL DISABILITY,

CONDITIONS TWO THINGS THAT CAN

SERVE FAMILIES THE MOST. THOSE

IN LINE WHAT WE THOUGHT

IMPORTANT FEATURES TO CAPTURE.

IN NATURAL MYSTERY DATA IS VERY

IMPORTANT FOR CLINICAL TRIAL WE

CAN THINK OF SOME REASONS WHY

SPECIFICALLY. IN CLINICAL TRIAL

WE WERE DOING RESEARCH STUDY TO

ACIDS NEW TREATMENT SAFE AND

EFFECTIVE. IT DESCRIBED THE

COURSE OF DISEASE WITHOUT GIVEN

TREATMENT COUPLE OF THINGS WE

ARE THINKING ABOUT, IF WE SEE A

CHANGE WITH NEW TREATMENT CHANGE

DUE TO TREATMENT OR DUE TO

DISEASE? WE MIGHT CONSIDER MOTOR

FUNCTION ONE OF THE IMPORTANT

MEASURES WE ARE ASSESSING. IF

THAT WERE TO CHANGE OR START TO

CHANGE AT THE TIME OF DELIVERY

NEW TREATMENT IS THAT SAME WHAT

WOULD HAVE HAPPENED IN THE

COURSE OF THINGS, IF NATURAL

HISTORY IS THAT DIRECTORY THAT

WHEN WE ASSUME TREATMENT IS

HELPFUL. AND SECOND WAY NATURAL

HISTORY HELPS US IS ALSO IN

HELPING TO UNDERSTAND FOR

MEASURING CHANGE IN SYMPTOMS.

IF WE HAVE A GIVEN SYMPTOM LIKE

CRISIS TO MEASURE HOW SHY VEER

IT IS BEFORE ANY TREATMENT IS

GIVEN, IF WE HAVE A SENSE

MEASUREMENTS OVER TIME ARE

STABLE IT IS EASY TO DETECT

CHANGE. ON THE OTHER HAND IF WE

DISCOVER IT VARIES IT CAN BE

MORE DIFFICULT. SO THAT HELPS US

TO FIGURE OUT HOW ACCURATELY

MEASURE. AS PART OF GENE THERAPY

TRIAL, NIH ALSO SPONSORED AND

SUPPORTED US TO DO ADDITIONAL

NATURAL HISTORY COLLECTION. OUR

CHALLENGES FOR THIS WERE AS WE

FACE WITH MANY RARE DISEASES

PATIENTS ARE SCATTERED AROUND

GEOGRAPHICALLY FAR FROM ONE

ANOTHER. WE HAVE 12 PARTICIPANTS

NINE IN NORTH AMERICA, AS YOU

CAN SEE FROM COAST TO COAST

AROUND THE COUNTRY HERE, THIS IS

ME IN ST. LOUIS. NOT EASY FOR

PEOPLE TO DRIVE TO SEE ME IN

CLINIC. AS YOU CAN IMAGINE. WE

DECIDE ON A STRATEGY OF MOSTLY

HOME VISITS TO SEE THESE

PATIENTS. PATIENTS WITH AADC

DEFICIENCY ARE MEDICALLY

FRAGILE, DIFFICULT FOR FAMILIES

TO TRAVEL TO AND FROM ACROSS THE

COUNTRY. SO I WANTED TO TRY TO

REDUCE THAT BURDEN. AND PLAN SRI

IS IT OVER TWO YEAR PERIOD.

VISITS. AS YOU CAN IMAGINE DOING

THE MATH ONCE INTO THIS WE

RECRUITED -- ALL 12 PATIENTS

WITHIN A ONE YEAR PERIOD, IT IS

A LOT OF VISITS, 12 PARTICIPANTS

TIMES THREE PER IN THE FIRST

YEAR AND A LOT OF TRAVELING. SO

IN JANUARY OF 2020, END OF 2019

I STARTED DOING SOME OF THESE

FOLLOW-UP VISITS USING

TELEMEDICINE. THEN OF COURSE

FROM MARCH 2020 THAT BECAME NORM

FOR ALL OF US. THIS IS A PICTURE

OF TYPICAL SET UP OF STUDY HERE

WE HAVE THE PATIENT AT HOME AND

ME WORKING WITH PHYSICAL

THERAPIST IN THAT STUDY

COORDINATOR. SO HERE IS RYAN

SHILLAN'S DAUGHTER YOU WILL HEAR

MORE FROM HER SOON. AT THE

BASELINE WHICH WAS CONDUCTED AT

A FAMILY CONFERENCE WHICH IS

WHERE WE RECRUITED THE FIRST

PARTICIPANTS. ONE OF OUR

IMPORTANT MEASURES WAS MOTOR

FUNCTION ASSESSMENT WHICH IS

WHAT WE WERE ABLE TO DO HERE.

HEN THE OTHER THING WE ASK

PARENTS TO DO WAS HOME WORK WE

ASK THEM TO RECORD SYMPTOMS AT

HOME AND WHILE THIS IS AN

EXAMPLE OF A LOG MY PARENT

FILLED OUT, RECORDING OF THE --

SO WE CAN ACCURATELY MEASURE HOW

LONG THEY WERE, HOW SEVERE OVER

PERIOD OF SEVERAL MONTHS.

FOLLOWING RYAN'S COURSE OVER THE

NEXT TWO AND A HALF YEARS, SHE

WAS SEEN FOR BASELINE VISIT AGE

4, SIX MONTHS LATER VISITED

HOME. . ALMOST 12 MONTHS AFTER

INITIAL VISIT SHE HAD VISIT AT

MY INSTITUTION BEFORE HAVING

GENE THERAPY SURGERY AND OVER

TIME TO APPRECIATE MANY THAT 12

MONTH PERIOD HAD SIMILAR MOTOR

PUNGS ASSESSMENT OVER THAT TIME.

THE FINAL VIDEO IS TAKEN FROM A

TELEMEDICINE VISIT, 18 MONTHS

AFTER SHE HAD GENE THERAPY, WE

CAN ALL APPRECIATE HOW HER

MOVEMENTS CHANGED. WE GOT TWO

VALUABLE PIECES OF INFORMATION

FROM OUR EXPERIENCE MANY THIS

NATURAL HISTORY STUDY. FOR NINE

SUBJECTS HERE OVER PERIOD OF 12

MONTHS, ONE IMPORTANT THING TO

FIGURE OUT IS WHETHER THE CRISES

COULD BE MEASURED IN A STAGE WAY

OVER TIME AND EACH COLORED BAR

REPRESENTS ONE OF THE DIFFERENT

PARTICIPANTS IN THE TRIAL, AND

IT IS A GIVEN STABLE MEASURE

OVER TIME. IN THE SECOND GRAPH,

OUR EXPERIENCE WITH TWO

PARTICIPANTS, FOLLOW AD YEAR FOR

GENE THERAPY. IN THE SECTION

HERE WE SEE MOTOR FUNCTION

MEASURE, WHICH RUNS FROM ZERO TO

100. PRE-SURGERY, MOO TORR

FUNCTION SCORES LESS THAN TEN,

AFTER SURGERY WE SEE A MARKED

CHANGE AND MALL HISTORY DATA

ALLOWS US TO SEE THE CHANGE THAT

HAPPENS FROM THE TREATMENT. IN

SUMMARY, I DESCRIBE TO YOU

OPERATIONAL STUDY, CONCURRENTLY

WITH GENE THERAPY CLINICAL TRIAL

FOR AACD DEFICIENCY. WHICH OPTED

FOR THIS STUDY TO DO I HAVE SITS

AT HOME OR TELEMEDICINE. THIS

DATA WE COLLECTED WERE REALLY

IMPORTANT KEY TO SUCCESSFUL

APPLICATION FOR FUNDING TO

CONTINUE NEXT PHASE OF THE TRIAL

WHICH WE HAVE JUST STARTED.

WITH THAT I WANT TO THANK ALL

THE PATIENTS AND FAMILIES WHO

CONTRIBUTED TO THIS. L PI OF THE

GENE THERAPY TRIAL, AND OUR

STUDY TEAMS. VARIOUS

INSTITUTIONS IN PARTICULAR

SUPPORT FROM NINDS AND FROM THE

AADC RESEARCH TRUST HEADED BY

LISA MANY THE UK AN INVALUABLE

RESOURCE FOR THE AACD COMMUNITY.

WITH THAT, I AM GOING TO HAND

THIS OVER TO SHILLAN RODRIGUEZ

PENA WHO WILL TELL US MORE ABOUT

HER DAUGHTER'S EXPERIENCE.

>> THANK YOU SO MUCH, DR.

PEARSON. HELLO EVERYONE, VERY

HAPPY TO BE PART OF THIS. I'M A

MOM TO 7-YEAR-OLD RYAN BORN WITH

AADC DEEPISH SHY. WE LIVE --

DEFICIENCY. WE LIVE OUTSIDE OF

TORONTO. GETTING A DIAGNOSIS WAS

QUITE A DIFFICULT JOURNEY, JUST

BECAUSE OF THE RARITY OF OUR

DISEASE AS DR. PEARSON

MENTIONED, IN AROUND 150 CASES

WORLDWIDE. IT IS SUSPECTED

THERE'S PROBABLY MORE CASES OUT

THERE, JUST THAT THEY ARE EITHER

UNDIAGNOSED OR MISDIAGNOSED.

ONCE WE DID GET DIAGNOSIS, RYAN

WAS 11 MONTHS OLD AND WE WAISTED

NO TIME KICKING THE GLOBAL

COMMUNITY. AS DR. PEARSON

MENTIONED THE AADC RESEARCH

TRUST BASED OUTSIDE OF LONDON

ENGLAND, IS AN INVALUABLE

RESOURCE FOR OUR FAMILIES AND

THEY HAVE DONE WORK IN

SUPPORTING RESEARCH FOR OUR

CONDITION AND ALSO HEADING A

BIOANNUAL CONFERENCE FOR OUR

DISEASE. MY FAMILY AND I

TRAVELED TO JUST OUTSIDE OF

LONDON ENGLAND TWICE IN 2016 AND

AGAIN IN 2018 TO ATTEND THESE

CONVERSATIONS. WHICH ARE GREAT

TO CONNECT IN PERSON IN

FAMILIES. ALSO TO CONNECT WITH

PROFESSIONALS THAT WORK FROM

ROUND THE GLOBE THAT HAVE

INTEREST IN OUR DISEASE

INCLUDING DR. BANQUET AND

PEARSON. THAT IS WHEN WE STARTED

DOING THE NATURAL HISTORY STUDY

WITH DR. PEARSON. THAT FIRST

VIDEO CLIP IS WHEN WAS OUR FIRST

SESSION IN TERMS OF LOOKING AT

RYAN'S BASELINE. I SAID FROM THE

BEGINNING HOWEVER WE CAN HELP

WITH ANY RESEARCH OR ANY PROJECT

HAPPENING WITH ORUDIS THAT I

WANTED TO BE PART OF IT BECAUSE

I JUST FEEL LIKE IT IS AN

INVALUABLE THING TO BE ABLE TO

SUPPORT AND CONTRIBUTE TO

GROWING INFORMATION AND GROWING

DATA FOR OUR DISEASE AND

ULTIMATELY TREATMENT FOR OUR

DISEASE. AND THINGS LIKE NATURAL

HISTORY STUDY GIVE A GREAT

PICTURE OF THE TRAJECTORY THE

CHILD WAS ON BEFORE GENE

THERAPY. WHICH OBVIOUSLY CAN

ALSO HELP YOU GAUGE THE SUCCESS

DIRECTLY RELATED TO THE

INTERVENTION OF GENE THERAPY

ITSELF. THE QUESTIONS AND THE

FOLLOW-UPS WERE ALL QUITE EASY

TO COMPLETE FROM A FAMILY

PERSPECTIVE. WE WERE TRACKING

BEHAVIORS AND SYMPTOMS AND

OCULAR GYRATE CRISIS WHICH DR.

PEARSON ALSO TOUCHED ON. SOME

MIGHT NOT CLEARLY UNDERSTAND

WHAT THAT IS, BUT JUST TO GIVE A

BRIEF NOTE OF IT EVERY CHILD

DIAGNOSED WITH AADC DEFICIENCY

SUFFERS FROM AN OGC OR OCULAR

GYRATE CRISIS. THESE ARE

EPISODES THAT TYPICALLY HAPPEN

EVERY THREE TO FOUR DAYS. AND

THEY CAN LAST ANYWHERE FROM TWO

TO EIGHT HOURS. A LOT OF

TOMMYING DICE NOSED AS SEIZURE

ACTIVITY BECAUSE THEY DO

CLINICALLY REPRESENT LIKE SEE

INSURES THOUGH NO BRAIN DRAG IS

HAPPENING WHEN THESE CRISIS TAKE

PLACE BUT THE CHILD GETS RIGID

AN DISTONNIC MOVEMENTS, ROLLING

OF THE EYES BACK, ALL THE WAY UP

TO THE TOP OF THEIR HEAD, WHEN

RYAN USED TO HAVE CRISIS SHE HAS

THE BEAUTIFUL BLUE EYE AND WE

COULDN'T SEE THE BLUE OF HER

EYES WHEN SHE WAS STUCK IN ONE

OF THESE CRISIS. THAT CAN LAST

FOR US ON AVERAGE THEY WERE

ANYWHERE FROM FOUR TO EIGHT

HOURS LONG. HAPPENING EVERY

THREE TO FOUR DAYS AND THEN DAY

AFTER SHE WOULD HAVE TO RESET

BECAUSE SHE WOULD BE EXHAUSTED

FROM BEING MANY THE CRISIS. AND

THEN SOON AS WE KNOW IT, IT

WOULD BE HAPPENING AGAIN. SO WE

WERE TRACKING THOSE VERY

CAREFULLY BECAUSE FROM A

PARENTS' PERSPECTIVE I TALK TO

OTHERS ALSO WE WOULD BEFORE GENE

THERAPY SAID GOSH IF THIS

SURGICAL INTERVENTION EVEN JUST

TOOK AWAY THE OGC WE WOULD BE SO

THANKFUL BECAUSE IT WAS

ABSOLUTELY TERRIBLE TO STAND BY

AND WITNESS YOUR CHILD GOING

THROUGH THESE CRISIS SO

REGULARLY LASTING FOR HOURS AND

NOT BEING ABLE TO SOOTHE OR HELP

THEM AT ALL. ANYHOW, WE REALLY

DID TRACK THOSE CRISIS AND THE

SEVERITY OF THOSE CRISIS IN THE

NATURAL HISTORY STUDY QUITE WELL

TO BE ABLE TO HAVE GOOD DATA ON

THAT. I WANT TO TOUCH ON THE

FACT THAT WE WENT TO POLAND IN

SEPTEMBER OF 2019, SEPTEMBER 3

IS WHEN RYAN UNDERWENT GENE

THERAPY SURGERY THAT WAS LED BY

DR. CHRISTOFF. I'M NOT

EXAGGERATING WHEN I SAY SHE'S A

DIFFERENT CHILD NOW AND QUALITY

OF LIFE HAS BEEN IMPROVED

TENFOLD MORE THAN TENFOLD. THIS

IS A CHILD THAT HAD NO

PURPOSEFUL MOVEMENT. SHE

COULDN'T WIPE HER EYES IF SHE

WAS TIRED PRIOR TO GENE THERAPY.

VOMITING DAILY IF NOT EVERY

SECOND DAY. CONSTANT PAIN,

FRUSTRATION, OGCs SHE WAS

TAKING 21 DOSES OF MEDICINE A

DAY BEFORE SURGERY AND ALL OF

THAT IS GONE NOW. WE STARTED

SEEING SOME INCREDIBLE

MILESTONES ABOUT TWO MONTHS

AFTER SURGERY, BASICALLY KIND OF

THE SAME DEVELOPMENT AS A NEURAL

TYPICAL CHILD, SHE STARTED

TRYING TO HOLD HER HEAD UP, TWO

MONTHS POST DOC AND THREE OR

FOUR MONTHS SHE STARTED REACHING

AND BATTING FOR TOYS. AGAIN JUST

LIKE A TYPICAL DEVELOPING CHILD

WOULD ON THAT TIME LINE. BY

SEVEN MONTHS SHE MASTERED

ROLLING, PLAYING WITH TOYS, SITS

INDEPENDENTLY WHICH WAS A

MASSIVE ACHIEVEMENT FOR US,

HEARTING SHE WAS COMPLETELY FED

BY A G TUBE FEEDING TUNE PRIOR

TO GENE THERAPY AND NOW SHE CAN

EAT STEAK AND RICE, LA ZAHNIA,

WE TAUGHT HER HOW TO HOLD HER

OWN CUP AND DRINK OUT OF A

STRAW. SHE'S USING CUTLERY NOW.

QUALITY OF LIFE HAS IMPROVED

TREMENDOUSLY. AND FOR THE RARE

DISEASE COMMUNITY, YOU KNOW WHAT

ALL THOSE MILESTONES MEAN AND

HOW IMPORTANT THEY ALL ARE. AND

SO IT IS MIRACULOUS TO BE ABLE

TO SEE DIFFERENCE IN OUR

DAUGHTER AND DUE TO

NEUROPLASTICITY THERE'S NO LIMIT

TO HOWEVER SHE WILL GO AND HOW

MANY MORE MILESTONES SHE WILL BE

ABLE TO ACCOMPLISH IN THE FUTURE

. THERE ARE CHILDREN

POST-OPERATIVELY WALKING,

TALKING. THAT ARE COMPLETELY

TOILET RAIN -- RAINED REALLY

ENJOYING A SECOND CHANCE AT

LIFE. I'M HAPPY TO SHARE THIS

STORY BECAUSE I THINK IT IS

IMPORTANT TO BE ABLE TO SPREAD

HOPE IN OUR COMMUNITY,

ESPECIALLY WHEN FAMILIES

AFLICKED BY SUCH RARE DISEASES,

HOPE ISN'T HANDED OUT ALL THE

TIME AND I WANTED TO BRIEFLY

EXPLAIN WHAT WE HAVE BEEN

THROUGH AND HOW INCREDIBLY

HOPEFUL GENE THERAPY IS NOT JUST

FOR OUR CONDITION BUT FOR

POSSIBILITY OF MANY DIFFERENT

RARE DISEASES. THANK YOU.

>> THANKS VERY MUCH SHILLAN FOR

TELLING US A RYAN'S STORY, IT IS

A LONG ROAD TO HEAR ABOUT

EVERYTHING YOU AND YOUR FAMILY

WENT THROUGH. IF WE HAVE TIME

FOR ONE QUESTION I WAS JUST

CURIOUS TO I TOUCHED ON IN MY

TALK ABOUT HOW MANY YEARS IN THE

MAKING IT WAS, FOR AADC GENE

THERAPY. MANY FAMILIES IN THE

IMMUNITY WERE WAITING FOR A LONG

TIME AND OBVIOUSLY THAT WAS YOUR

EXPERIENCE AS WELL. I THINK FOR

SEVERAL YEARS. KNOWING THAT IT

WAS SOMETHING THAT WAS ON THE OR

RYESON. I WAS CONSCIOUS WE COULD

MOVE EVERYTHING FASTER FOR EVER

CHILD. WONDERING IF YOU HAVE ANY

REFLECTIONS OR THOUGHTS ABOUT

PERIOD OF WAITING KNOWING GENE

THERAPY WAS THERE. NOT YET

NECESSARILY SOMETHING YOU COULD

ENROLL IN STRAIGHT AWAY. WHAT

PARTICIPATION IN NATURAL HISTORY

PORTION OF THE RILE WAS LIKE --

TRIAL WAS LIKE BEFORE THAT.

>> THE WAITING, OH BOY, IT

TRUTHFULLY NOT -- FOR SAKE OF

TRYING TO SOUND DRAMATIC BUT IT

REALLY WAS EMOTIONAL TORTURE.

REALLY MIXED WITH KNOWING HOW

BLESSED WE ARE. BECAUSE WHEN YOU

HAVE A DISEASE THIS RARE, THE

BLESSING OF HAVING THIS LIFE

CHANGING TREATMENT ON THE

HORIZON IS INCREDIBLE TO HAVE

AND YOU ARE GRATEFUL FOR IT AND

VERY THANKFUL KNOWING THAT IT IS

DOWN THE ROAD FOR YOU. BUT LIKE

YOU SAID HAVING IT OUT OF REACH

WHEN DAY IN AND OUT YOU ARE

WATCHING YOUR CHILD SUFFER, ALSO

ACCOMPANIED BY BEING CLOSE TO

COMMUNITY AND SIGHING OTHER

CHILDREN PASS AWAY, IT IS ALMOST

LIKE THE SANDS OF TIME ARE GOING

AND AS MUCH AS YOU WANT TO TRY

TO STAY FAITHFUL AND BELIEVE

YOUR DAUGHTER WILL RECEIVE WHAT

IT IS YOU ARE HOPING FOR,

REALITY AND THE SEVERITY OF THE

SITUATION WEIGHS HEAVY ON YOUR

WHOLE BEING. EMOTIONALLY, SPIRIT

ACTUALLY, IT WAS VERY DIFFICULT

TO WAIT. HAVING SAID THAT, WE

WAITED, RYAN GOT THE SURGERY

JUST BEFORE FIFTH BIRTHDAY, WE

FOUND OUT ABOUT HOPE OF GENE

THERAPY ON DAY OF DIAGNOSIS AT

11 MONTHS SO FROM 11 MONTHS TO

JUST BEFORE HER FIFTH BIRTHDAY,

I THOUGHT ABOUT IT HUNDREDS OF

TIMES A DAY A THAT IS NOT AN

UNDERSTATEMENT. THE DESPERATION

WAS A DRIVER. IN TERMS OF

CONNECTING WITH YOU AND BEING

ABLE TO BE PART OF THE NATURAL

HISTORY STUDY, I FELT LIKE THAT

IS SOMETHING I CAN DO NOT ONLY

FOR RYAN BUT IMMUNITY AT LARGE

AND HELPING WITH PROMOTING MORE

DATA AND ALLOWING YOU TO FOLLOW

US WAS SUCH AN HONOR BECAUSE WE

REALLY DO ARE CONNECTED TO OUR

COMMUNITY AND HOWEVER WE CAN

HELP SUPPORT RESEARCHER DATA WE

ABSOLUTELY WANT TO BE PART OF

IT. THAT IS EVER GREEN. EVEN

NOW. EVEN POST-OPERATIVELY.

HOWEVER WE CAN HELP AND BE

VERBAL ABOUT OUR STORY AND

CONTRIBUTE, THAT'S WE ARE HAPPY

TO DO SO.

>> YOUR CONTRIBUTION AND -- LIKE

THE OTHER FAMILIES WHO

PARTICIPATED IN THE TRIAL AND

NATURAL HISTORY STUDY HAS BEEN

REMARKABLE OVER THERS YEW. WITH

THAT WE ARE WELL OUT OF TIME. SO

IF YOU WANT TO TELL PEOPLE THAT

SHILLAN AND I WILL BE AS I SAID

AVAILABLE TO TAKE QUESTIONS ON

THE DAY OF THE LIVE SEEM IF YOU

WOULD LIKE THE REACH OUT TO US,

THANKS VERY MUCH.

>> THANK YOU VERY MUCH.

>> WELCOME TO USE OF TELEHEALTH

DURING COVID-19. MY NAME IS

TIFFANY BAILEY LASH, PROGRAM

DIRECTOR NATIONAL INSTITUTE OF

BIOMEDICAL IMAGING AND

BIOIMAGING -- BIOENGINEER. I

WILL SERVE AS MODERATOR AND WE

WILL BE JOINED BY HEIDI ROSS TO

PROVIDE INSIGHT INTO TELEHEALTH

ON GLOBAL SCALE. WE WILL HAVE

DR. GENIN D'ARMIENTO, KRISTIN

GRASSI AND DR. ANDREA GROPMAN TO

DISCUSS TELEHEALTH DURING THE

PANDEMIC. DURING OUR SESSION YOU

CAN ROOK FORWARD TO

UNDERSTANDING WHAT IS MEANT BY

AND INVOLVED IN TELEHEALTH, IT

IS IMPORTANCE FOR RARE DISEASE

PATIENTS AND INDIVIDUAL

TELEHEALTH EXPERIENCES FROM THE

PATIENT AND PROVIDER. I WILL

TURN IT OVER TO HEIDI.

>> THANK YOU TO THE NIH AND

NCATS FOR HOSTING TODAY'S

WONDERFUL RARE DISEASE DAY

EVENT. MY NAME IS HEIDI ROSS,

ACTING VICE PRESIDENT OF POLICY

AND REGULATORY AFFAIRS AT THE

NATIONAL ORGANIZATION FOR RARE

DISORDERS. I'M THRILLED TO KICK

OFF THE SESSION ON USE OF

TELEHEALTH DURING THE COVID-19

PANDEMIC. TELL HEALTH AND

TELEMEDICINE ARE INTERCHANGEABLE

AND REFER TO EXCHANGE OF

INFORMATION FROM ONE PLACE TO

THE OTHER VIA VIDEO AUDIO OR

AUDIO COMMUNICATION. WHILE NOT

A NEW CONCEPT ITS UTILIZATION

DURING COVID-19 PANDEMIC

SKYROCKETED AND MANY OF US USE

TELEHEALTH FOR THE SAFETY OF OUR

OWN HOME AND FROM THEIRS TOO

SOMETIMES. ACCORDING TO THE

(INAUDIBLE) MEDICARE AND

MEDICAID SERVICES 52.7 MILLION

TELEHEALTH VISITS TOOK PLACE

WITH MEDICARE BENEFICIARIES IN

2021. THIS WAS A 63 FOLD

INCREASE. FROM JUST -R8 40,000

TELEHEALTH VISITS IN 2019. THE

RARE DISEASE COMMUNITY WITH

COMPLEX HEALTH NEEDS TO REQUIRE

REGULAR CONTACT WITH HEALTHCARE

PROVIDERS, COVID-19 IS EXTREMELY

DISRUPTIVE. SURVEY CONDUCTED IN

MIDDLE OF 2020 FOUND ALMOST 80%

PATIENTS HAD EXPERIENCED

(INAUDIBLE) AND 32% REPORTED

CHILD ACCESSING MEDICAL CARE. AT

THE SAME TIME 88% PATIENTS TELL

HEALTH APPOINTMENTS (INAUDIBLE).

GIVEN THE CHALLENGES AND BURDENS

ASSOCIATED WITH HAVING A RARE

DISEASE, IT IS NOT SURPRISING TO

SEE THE POSITIVE RESPONSE TO

EXPANDED TELEHEALTH SERVICES.

WITH WHEN NORD CONDUCTED A

SURVEY IN 2020, OUR RESULTS

FOUND 92% PATIENTS HAD A

TELEHEALTH APPOINTMENT SAID IT

WAS A POSITIVE EXPERIENCE AND

70% INDICATED THEY WANT THAT

OPTION FOR FUTURE. NORD SEES IT

AS A CRITICAL TOOL TO ADVANCE

HEALTH EQUITY FOR RARE DISEASE

PATIENTS. ANOTHER SUMMIT PREF

COVID TIMES 40% TRAVELED MORE

THAN 60 MILES FOR MEDICAL

APPOINTMENT THIS IS OFTEN

SIGNIFICANT TRAVEL COST MISSED

WORK AND SCHOOL HANDY ROPINGS TO

FAMILY RUTIN. AND WHAT WE DON'T

KNOW IS WHO IS OPTIMAL CARE

WEREN'T ABLE TO OVERCOME

BURDENS? TELEHEALTH CAN HELP

REDUCE THESE BARRIERS ALLOWING

PATIENTS TO GET EXTRA BENEFIT

FASTER MANY THE CARE GIVING

(INAUDIBLE) MORE TIMELY MANNER.

WE KNOW THE BENEFITS OF

TELEHEALTH. SOME LIKE ACCESS TO

HIGH-SPEED INTERNET SERVICES FOR

OTHERS USING TELEHEALTH

TECHNOLOGY OR DEVICE OR

(INAUDIBLE) CAN BE CONFUSING.

MORE MUST BE DONE TO ENSURE

PATIENTS HAVE ABILITY TO USE IT,

EXPLOIT FULLISTEST

EPIDAIBILITIES AND THAT MEANS

FULLEST CAPABILITY TO TEACH

PEOPLE HOW TO USE THIS TOOL.

EXPANDED TELEHEALTH SERVICES

MIGHT BE THE ONLY GOOD THING HA

HAPPENED DURING COVID. A LOT OF

REGULATIONS ARE COMPLICATED AND

(INAUDIBLE) WHAT TYPE OF HEALTH

INSURANCE. ISSUES SUCH AS

STATEWIDE INSURANCE

REQUIREMENTS, COVERAGE, HAVE

BEEN CHALLENGES MEDICATIONS AND

HEALTHCARE PROVIDERS CONTINUING

TO HAVE TO NAVIGATE. SO NO

REASOND COMMITTED TO ENSURING

TELEHEALTH IS ACTIVELY

INTEGRATED INTO OUR HEALTHCARE

SYSTEM, IN A WAY THAT CAN HELP

IMPROVE HEALTH EQUITY AND

ACHIEVE POSITIVE OUTCOMES FOR

ALL PATIENTS. (INAUDIBLE)

FANTASTIC MODERATOR FOR TODAY'S

SESSION, DR. BAILEY LASH.

>> WE HAVE THREE ESTEEMED

PANELIST, DR. D'ARMIENTO,

KRISTIN GRASSI AND DR. GROPMAN.

STARTING WITH DR. D'ARMIENTO,

WHO SERVES AS PROFESSOR OF

MEDICINE ANESTHESIOLOGY, SHE'S

DIRECTOR OF THE CENTER FOR LYMPH

ANGIOLIE OWE MYOMATOSIS, AND

RARE LUNG DISEASE AND CHAIR OF

BOARD OF DIRECTORS FOR ALPHA 1

FOUNDATION. SHE IS A

PULMONOLOGIST AND ALSO DOES

PRIMARY CARE FOR PATIENTS, SHE

SERVED AS CONSULTANT TO DIRECTOR

OF OFFICE OF RARE DISEASE AND

WORKS WITH THE GARD TEAM. OUR

SHE ALSO SAW FIRST TELEHEALTH

VISIT WHEN COVID BEGAN. SHE WAS

ABLE TO SHUT DOWN IN PERSON

VISITS THE FIRST WEEK OF MARCH,

RECOGNIZING THE ONE ABILITY OF

THE PATIENTS WITH COVID. WITHIN

WEEKS THE UNIVERSITY SET UP

TELEHEALTH CAPABILITIES AND

RAPIDLY MOVED BUSINESS TO TELL

HEALTH. WE ARE HAPPY TODAY TO

HEAR FROM DR. D'ARMIENTO'S

PATIENT, KRISTIN GRASSI. A RARE

DISEASE PATIENT WHEN SHE WAS

DIAGNOSED WITH A RARE DISEASE

PROGRESSIVE LUNG DISEASE, IN

NOVEMBER OF 2020. AFTER

UNDERGOING OPEN LUNG BIOPSY. A

WEEK LATER AFTER HER DIAGNOSIS,

SHE BEGAN SEEING DR. D'ARMIENTO

VIA TELEHEALTH AND WILL CONTINUE

TO DO SO THROUGH SEVERAL MEDICAL

EMERGENCIES OR PROCEDURES THAT

TOOK PLACE MONTHS FOLLOWING HER

DIAGNOSIS. KRISTIN IS CARED FOR

AND GUIDED THROUGH PROGRESSION

OF DISEASE ENTIRELY VIA

TELEHEALTH AND ALL COMMUNICATION

WITH DR. D'ARMIENTO OCCURRED

VIRTUALLY AND DIGITALLY. I'M

ALSO EXCITED TO INTRODUCE DR.

ANDREA GROPMAN, PRINCIPLE

INVESTIGATOR WITH UREA CYCLE

DISORDERS CONSORTIUM. DR.

GROPMAN CONDUCTS RESEARCH AND

CARES FOR PATIENTS WITH RARE

METABOLIC DISORDERS. SHE IS THE

PI OF THE CONSORTIUM AND AFTER

16 YEARS OF RESEARCH IS IN THE

UCDC, THE PANDEMIC CAUSING

ABUNDANT RACE AS A RESEARCHERS

HAD TO PIVOT TO ADAPT TO NEW

WAYS TO CONDUCT REMOTE RESEARCH

HERE FOR PATIENTS AND ALSO SERVE

AS RESOURCE FOR UREA CYCLE

PATIENT COMMUNITY AS INFORMATION

ABOUT THE PANDEMIC AND VACCINES

CAME TO LIFE. SO WE ARE VERY

EXCITED TO HAVE THESE THREE

PANELISTS HERE TODAY. SO I WOULD

LIKE TO GET STARTED. THIS WILL

BE JUST KIND OF GENERAL CAN YOU

SHARE ABOUT YOUR OVERALL

EXPERIENCE DURING -- AT THE

BEGINNING OF THE PANDEMIC? AND

HOW IF YOU HAD TO MAKE A SWITCH

OR WAS WILL SOMETHING YOU WERE

ALREADY COMFORTABLE DOING WITH

TELEHEALTH? I WILL START WITH

ANDREA TO SHARE A LITTLE BIT

ABOUT HER EXPERIENCE FIRST.

>> THANK YOU, TIFFANY. I'M ALSO

A DIVISION CHIEF NEUROGENETICS

AND NEURODEVELOPMENT OF

DISABILITIES SO WE HAD BEEN

DABBLING WITH TELEHEALTH OVER

THE SUMMER PRIOR TO THE PANDEMIC

BUT NOT MAJOR FASHION. SO WHEN

THE PANDEMIC FORCED US TO

TRANSFER PATIENT BUSINESS TO

TELEHEALTH WE HAD A LITTLE BIT

OF EXPERIENCE WITH THAT AND ABLE

O DO IT QUITE QUICKLY. THE

RESEARCH WAS A LITTLE BIT MORE

DIFFICULT BECAUSE MANY OF OUR

CRITICAL REPLIER PATIENTS --

REQUIRE PATIENTS TO COME IN AND

WE HAVE BEEN DOING THIS A NUMBER

OF YEARS THE SAME WAY. SO REALLY

CAUSED US TO THINK ABOUT MORE

FLEXIBLE WAYS TO BRING IN

PATIENTS USING ELECTRONIC

CONSENT FORMS AND UNFORTUNATELY

SOME OF THE PROTOCOLS COULDN'T

CONTINUE BECAUSE THEY DID

REQUIRE FACE TO FACE LIKE MRI

STUDIES AND THINGS LIKE THAT BUT

THE ONE THING THAT CAME OUT FROM

THE PANDEMIC FROM PATIENT ANDRY

SEARCH, TWO THINGS. THE

INEQUITIES OF SOME PATIENTS NOT

BEING ABLE TO HAVE THE RIGHT

ACCESS TO DO TELEHEALTH OR

TELERESEARCH (INAUDIBLE) LAPTOPS

OR SMART PHONES BUT TWO, ALSO AN

OPPORTUNITY FOR RESEARCH TO

BRING IN PATIENTS WHO PROBABLY

WOULD NOT HAVE BEEN ABLE TO

PARTICIPATE OTHERWISE BECAUSE OF

GEOGRAPHIC LIMITATIONS.

>> THANK YOU. DR. ARM TOE.

>> THANK YOU, TIFFANY. WE HAVE

ALL -- HAD ALWAYS HAD A METHOD

OF COMMUNICATING ELECTRONICALLY

WITH OUR PATIENTS SO MANY OF

THEM HAD DEVICES OR WERE USED TO

TALKING TO US BY PHONE OR

THROUGH EMAIL. SO THAT WAS

LITTLE LESS CHALLENGING FOR OUR

POPULATION BUT WE HAD NEVER --

WE DID NOT VIDEO VISIT SO THAT

WAS NERVE WRACKING BECAUSE YOU

CAN'T HAVE REAL CONVERSATIONS

AND CONNECTIONS AT FIRST. WHAT I

FOUND DIFFICULT INITIALLY

BESIDES IN THE MIDDLE OF

PANDEMIC WAS WHEN YOU MET A NEW

PATIENT YOU COULDN'T ENGAGE IN

THE WAY YOU WANTED BUT ALL OUR

PATIENTSNA WE HAD ESTABLISHED

FOUNDED REA-- FOUND IT

REASSURING TO CONNECT THROUGH

VIDEO, WE WERE EXCITED TO SEE

PEOPLE THROUGH VIDEO REASSURING

THEM ABOUT THE PANDEMIC AND

UNDERSTAND THE REGULATIONS AND

MANDATES. SO THAT WAS VERY

HELPFUL.

>> THANKS SO MUCH. CAN YOU SHARE

LITTLE HAVE YOU USED TELEHEALTH

OR IS THIS SOMETHING NEW, WHAT

ARE YOUR THOUGHTS?

>> THANK YOU TIFFANY. I BECAME A

RARE DISEASE PATIENT OR FOUND

OUT I HAD A RARE DISEASE AT THE

HEIGHT OF THE PANDEMIC. SO

TELEHEALTH THAT WAS MY FIRST

ENGAGEMENT WITH TELEHEALTH. A

MENTIONED EARLIER A WEEK AFTER

DIAGNOSIS I STARTED SEEING DR.

D'ARMIENTO SO WHILE IT WAS NEW

TO ME, IT'S BEEN SORT OF MY

NORMAL SINCE MY DIAGNOSIS

BECAUSE THAT IS ALL I HAVE BEEN

DOING IS CARING FOR VIA

TELEHEALTH WHETHER THAT IS VIDEO

OR AUDIO CALLS. SO YEAH, I WAS

DEFINITELY, IT WAS NEW TO ME BUT

I WAS IN A DESPERATE SITUATION

AND I WASN'T THINKING ABOUT PROS

AND CONS OF TELEHEALTH, HAPPY TO

HAVE DOCTOR THAT NEW WHAT SHE

WAS DOING AND COULD TAKE CARE OF

ME AND GROUND ME AS I WAS

SPIRALING DURING THE FIRST FEW

MONTHS OF MY DIAGNOSIS. SO IT

CAME, IT TOOK STRESS AND ANXIETY

FROM ME AND MY CAREGIVERS WHICH

WERE MY PARENTS SO IT CAME -- IT

WAS A GOOD THING FOR ME. AS

MENTIONED TO THIS DAY I'M STILL

SEEING DR. D'ARMIENTO VIA

TELEHEALTH AND HOPE TO CONTINUE

TO DO SO. SO IT'S BEEN AN

INTERESTING, OVERALL POSITIVE

EXPERIENCE.

>> THANKS SO MUCH. SO WITH

TELEHEALTH TELEMEDICINE IT

INVOLVES ALL DIFFERENT -- CAN

INVOLVE ALL DIFFERENT TYPES OF

TECHNOLOGIES. CURIOUS WHETHER

ANY OTHER DIFFERENT APPLICATIONS

THAT YOU MAY HAVE USED DURING

THE THE TELEHEALTH EXMEANS THAT

YOU UTILIZED.

>> -- EXPERIENCE.

>> EVERYONE HAD PULSE OX WHICH

HELPED US A LOT. IT WAS A

LITTLE FRUSTRATING, THERE WAS

SOME THINGS THAT WE HAD TO DEAL

WITH WHERE WE WOULD HAVE CHRISTY

LOG WHAT WAS GOING ON AND SHOW

US CERTAIN THINGS TO LOOK AT THE

COLOR OF THINGS AND SO IT WAS

CHALLENGING BUT WE DON'T RELY ON

TECHNOLOGY OUTSIDE OF -- SO I --

IT WAS HARD NOT TO LISTEN TO

PEOPLE'S LUNGS BECAUSE HA IS

SOMETHING THAT WE CAN PICK UP ON

THINGS AND THAT WAS FRUSTRATING.

THAT IS WHAT WE DID.

>> ANYTHING, DR. GROPMAN.

>> TO ADOPT THE EXAM AND USING

THE FAMILY TO FACILITATE PARTS

OF THE EXAM THAT WE USUALLY DO

HANDS ON OR AFTERWARDS HAVING A

FAMILY SEND US PICTURES OF

THINGS IF WE ARE INTERESTED IN

THE WAY THE FACE LOOKS OR

CREASES ON THE HANDS, IF WE

COULD ARE THE PATIENT MOVE UP TO

THE SCREEN, BUT OTHERWISE HAVE

TO SEND THE SCREEN SHOTS, OR

VIDEOS NEEDED MORE INFORMATION

WE ASK HEM TO SEND VIDEO TO US

AFTER.

>> THIS IS FOR DR. D'ARMIENTO.

WAS THERE A SHARP PIVOT TO

TELEHEALTH DURING THE PANDEMIC?

I KNOW YOU AND DR. DROPMAN

MENTIONED -- GROPMAN MENTIONED

YOU UTILIZED TO A CERTAIN DEGREE

BUT A SHARP PIVOT TO COVID-19 TO

HAVE IT?

>> IT WAS SHARP PIVOT AND THE

HOSPITAL DIDN'T HAVE THE PERFECT

SYSTEM, HARD FOR THE PATIENTS TO

GET ON SO WE WOULD HAVE THEM USE

THEIR DEVICE BUT THEY COULDN'T

GET ON TO THE HOSPITAL SYSTEM.

BUT THEN THINGS MOVED RAPIDLY. I

WAS IMPRESSED BY THE PACE

SOMETHING WHICH MANY DESIRE FORD

A LISTENING TIME GOT IMPLEMENTED

WHEN IT WAS REALLY NECESSARY.

IT WASN'T AS IF PEOPLE WEREN'T

REQUESTING TELEHEALTH FOR YEARS,

IT WAS JUST AMAZING HOW FAST WE

WERE TABLE DO THAT. NOW IT IS

CONVENIENT FOR US. WE DO --

SETTLED INTO -- I DON'T THINK

TELEHEALTH IS MOST APPROPRIATE.

TELEHEALTH MOST APPROPRIATE AT

CONSULTANT FOLLOW-UP AFTER

INITIAL DIAGNOSIS INCLUDING

DISCUSSION OF GENETIC TESTING OR

TREATMENT DECISIONS. WE FOUND

PATIENTS WITH EFFECTIVE LOCAL

PRIMARY CARE PHYSICIAN WILLING

TO WORK IN CONCERT WITH REMOTE

RARE DISEASE SPECIALIST WOULD

BEST SERVE BY TELEHEALTH.

>> GREAT. ALWAYS CURIOUS FROM

PATIENT'S PERSPECTIVE. ARE THERE

ANY IMPROVEMENTS OR DIFFERENCES

YOU WOULD LIKE TO SEE POSSIBLY

FUTURE TELEMED MINUTE

>> NOTHING COMES TO MIND AT THIS

POINT. I'M FORTUNATE TO HAVE HAD

ACCESS TO THE TECHNOLOGY I NEED

AND TO HAVE DOCTORS THAT KEPT AN

OPEN LINE OF COMMUNICATION

ALWAYS. I THINK I ONLY HAD A FEW

FACE TO FACE ZOOM CALLS A LOT OF

MY COMMUNICATION WITH D'ARMIENTO

OCCURRED BY TEXT OR BY PHONE

CALL AT ONE POINT I THINK AT THE

HEIGHT OF MY DISEASE I WAS

TEXTING HER EVERY DAY. AND SO I

THINK TELEHEALTH NATURE OF

TELEHEALTH SINCE IT WAS MY FIRST

EXPERIENCE AS A RARE DISEASE

PATIENT, SET THE TONE FOR THAT

DIGITAL COMMUNICATION. IF YOU

REALLY COMFORTABLE DOING THAT SO

FOR THAT I'M GRATEFUL. IT HAS

BEEN AND OVERALL POSITIVE

EXPERIENCE. AND I HAVE BEEN

FORTUNATE TO HAVE GREAT LOCAL

PULMONOLOGISTS AS AS WELL WHO

WORKED IN COLLABORATION WITH DR.

D. SO IT KIND OF REALLY WAS ALL

THAT INIADED SO I DON'T SEE

ANYTHING MAJOR THAT AFFECTED ME

OR COULD BE DONE. I MISS SORT OF

MAKING THAT CONNECTION IN PERSON

WHICH IS SOMETHING THAT'S BEEN

MENTIONED BUT I HAVE -- NOTHING

MAJOR COMES TO MINE, I'M SORRY

THAT'S PROBABLY NOT THE ANSWER

YOU WANT. MY EXPERIENCE IS

DIFFERENT THAN EVERYONE ELSE'S

SO SOMEONE ELSE HERE SURE THEY

HAVE A DIFFERENCE ANSWER BUT

THAT IS SORT OF WHERE I'M AT

RIGHT NOW WITH TELEHEALTH.

>> CHRISTY, THE FUNNEL RIFF IS

WHEN SHE HAD COME IN FOR X-RAY.

WE HAD NOT VISIBLY SEEN MY

PARTNER AND I -- LIKE SHE'S DOWN

THERE, SHE'S THERE AND WE WENT

OVER THERE AND SHE WAS GETTING

AN P RAY, WE WERE SO EXCITED TO

ACTUALLY SEE HER AND SHE WAS

KIND OF EXCITED.

>> THAT WAS THE FIRST TIME I MET

DR. D IN PERSON AND IT WAS SORT

OF BY CHANCE I HAD MEDICAL

EMERGENCY I WAS BROUGHT TO

COLUMBIA NEW YORK CITY -- RATHER

NEW YORK PRESBYTERIAN AND BY

CHANCE ABLE TO MEET THEM IN

PERSON BUT NEVER CARED FOR IN

PERSON SO A REALLY INTERESTING

JOURNEY AS A PATIENT.

>> THANKS SO MUCH.

>> AS FOLLOW-UP TO THAT,

TELEMEDICINE IS NOT MEANT FOR AN

EMERGENCY SITUATION, HER

SITUATION WAS RARE BECAUSE OF

COVID AND WE LEARNED THAT WE

COULD MANAGE, THAT WAS

INTERESTING THAT WE COULD MANAGE

SOMEONE THROUGH TELEHEALTH WHO

HAD A VERY CRITICAL EVENT.

HIGHLY RECOMMEND THAT THAT SORT

OF THING NOT BE DONE TYPICALLY,

THAT YOU SEE THAT KIND OF PERSON

ONCE AND MANAGE AFTERWARDS.

>> RIGHT. THANK YOU SO MUCH.

QUESTION FOR DR. GROPMAN AND

ALONG THOSE SAME LINES, SO WHAT

WILL TELEHEALTH NOT WORK AND ARE

THERE CASES WE SHOULDN'T DO

TELEHEALTH?

>> I CAN ANSWER IN TERMS OF

RESEARCH BECAUSE YOU HEARD THE

EXPLANATION IN TERMS OF HOW IT

WORKS CLINICALLY. THERE WAS A

QUICK TRANSITION FOR PATIENT

CARE BUT NOT SO MUCH FOR

RESEARCH BECAUSE ALL OF OUR

PROTOCOLS WERE WRITTEN ASSUMING

FACE TO FACE ENCOUNTER. SO WE

OBVIOUSLY HAD TO PUT SOME TRIALS

ON HOLD BECAUSE WE COULDN'T DO

THEM REMOTELY BUT OTHERS WE HAD

TO CHANGE PROTOCOLS TO ALLOW

ELECTRONIC CONSENTING FOR

EXAMPLE, FOR PORGESES OF THE

EVALUATION TO BE DONE REMOTELY

AND OTHER PORTIONS, TRIKER

GETTING BLOOD DONE WE WERE ABLE

TO SUBSTITUTE OUT THESE CHEEK

SWABS AFTER DNA SAMPLES RATHER

THAN HAVING PATIENTS GET BLOOD

DRAWN AND MAIL THAT TO THE

PATIENTS. I THINK DIFFERENT

ASPECTS OF THE EVALUATION AND

EXAM WERE NOT PERFECT BY

TELEMEDICINE, WE COULDN'T LOOK

IN THEIR EYES THOUGH I'M TOLD

THERE IS A TECHNOLOGY THE

OPHTHALMOLOGIST WHERE THEY ARE

ABLE TO GET A SOMEWHAT DECENT

VIEW OF THE PIE PUPIL, AND THEN

SOME ASPECTS OF NEUROLOGIC

EXAMINATION DYSMORPHOLOGY,

THOUGH THAT'S GETTING BETTER. IT

ALSO ALLOWED US TO GET RESEARCH

DATA IN WAYS THAT WE WEREN'T

INTENDING SO FOR EXAMPLE, MANY

OF US NOTICE THAT OUR PATIENTS

WERE A LOT HEALTHIER. SO WE

WEREN'T HAVING AS MANY INTERIM

EVENTS SO PATIENTS HAVE ANEMIA

WHEN SUPPRESS STRESSED OR A

VIRAL TRIGGER OR OTHER ILLNESS.

AND WE NOTICED THAT WASN'T

HAPPENING. PART OF OUR PROTOCOLS

LONGITUDINAL STUDY ACTUALLY

REQUIRES THAT WHEN THE PATIENTS

HAVE AN EVENT THEY COME BACK IN

FOR RESEARCH ASSESSMENT AND

OTHER MEASURES THAT ARE TAKEN TO

SEE WHAT TYPE OF SYMPTOMS THEY

HAD AND IF THEY RECOVER. SO WE

HAD FEWER BECAUSE THE PATIENTS

WERE NOT GETTING SICK, THEY WERE

AT HOME. THERE WAS

MISINFORMATION ABOUT THE

PANDEMIC AND VACCINES SO WE TOOK

THE OPPORTUNITY TO SET UPTOWN

HALLS WITH PATIENT ADVOCACY

GROUPS SO IT GAVE RESEARCHERS

MORE OPPORTUNITIES THAN

TYPICALLY TO INTERACT WITH THE

PATIENT ADVOCACY, USUALLY WE

JUST INTERACT WITH THEM ONCE A

YEAR, WE FELT IT WAS A GOOD

OPPORTUNITY AND IN OUR

RESPONSIBILITY TO UPDATE THEM ON

WHAT WAS HAPPENING WITH RESEARCH

AND ALSO INFORMATION ABOUT THE

VACCINES AND COVID. ALSO TO

COLLECT INFORMATION PATIENT

ADVOCACY GROUP COLLECTED

INFORMATION WHO GOT COVID WHAT

SOME OF THE MANIFESTATIONS WERE

THEY DIFFER WITH DISEASE. WHILE

SOME ON HOLD IT ALLOWED US TO

COLLECT DIFFERENT RESEARCH DATA

SO I FEEL LIKE WE DIDN'T SLOW

DOWN COMPLETELY, WE TRIED TO

KEEP RESEARCH GOING THOUGH IT

MAY HAVE BEEN A DIFFERENT

FORMAT. WHAT WE WERE USED TO

DOING.

>> ALL RIGHT. THANK YOU SO MUCH

SO I'M A LITTLE CURIOUS ABOUT

CAREGIVERS, FAMILY INVOLVEMENT,

CHANGING ENVIRONMENT. DR.

D'ARMIENTO CAN YOU COMMENT ON

THAT?

>> I DEAL WITH IT. I THINK ONE

THING THAT WAS VERY DIFFICULT

DURING VIRTUAL VISITS, USUALLY I

CAN MEET EVERYONE IN A SPACE

WHERE I CAN INTERACT WITH MY

PATIENTS THAT HAVE EYE CONTACT

OR COMMUNICATION WITH THE

FAMILY. THAT IS NOT REALLY EASY

IN TELEHEALTH USUALLY HAVE THE

PERSON -- NORMALLY YOU CAN

COMMENT ON THAT.

>> I WAS GOING TO SAY I WAS IN A

DESPERATE SITUATION AND MY

PARENTS WERE DESPERATE FOR

INFORMATION AN ANSWERS. SO MY

FIRST INITIAL FACE TO FACE ZOOM

CALL WITH DR. D'ARMIENTO AND DR.

(INAUDIBLE) I HAD PREPARED MY

MOM SORT OF, BEHIND ME LIKE

LEANING IN, IT WAS THIS AWKWARD

NATURE TO THE WHOLE THING. OF I

WASN'T THINKING AT THE TIME BUT

IN PREPARATION IS DISCUSSION I

WAS REFLECTING AND LIKE YEAH,

THAT WAS A WEIRD INTERACTION, I

CAN SENSE MY MOM'S ANXIETY, IT

WAS A VERY AWKWARD INTERACTION.

WITH WE GOT ALL THE INFORMATION

WE NEEDED IN A TIMELY MANNER SO

NOT THINKING ABOUT THAT AT THE

TIME. BUT THAT'S SOMETHING THAT

COMES TO MIND NOW.

>> WE CAN SENSE WHEN THEY GOT P

IN, 30 MINUTE WE'LL GET TO

A. 'S QUESTIONS, LET'S GET

HISTORY. BUT SHE'S QUITE RIGHT,

IT WAS VERY DISTINCT MEMORY FOR

BOTH OF US. SO IT IS HARD TO

HAVE A GROUP CONVERSATION

OBVIOUSLY ON ZOOM. SOMETIMES WE

NEED HELP FROM CAREGIVERS SO

THAT INSIGHT IS NOT ALWAYS

AVAILABLE ON ZOOM.

>> I WANT TO ADD IN TERMS OF CAR

GIVEN, I WAS AT A POINT HAVING

TO HAVE PROCEDURE DONE EVERY DAY

AT HOME AND MY SISTER DID IT

HALF THE TIME SO BEING ABLE TO

TEXT OR CALL DR. D OR DR. GOLD

WITH QUESTIONS, MENTIONS ANY

PICTURES. THAT BROUGHT A LOT OF

RELIEF TO MY SISTER AND MY AT

HOME NURSE WHO HAD CONCERNS AT

TIMES SO GETTING IMMEDIATE

INFORMATION AND ANSWERS REALLY

HELPFUL. IN TERMS OF JUST NOT

HAVING TO WORRY ABOUT TRAVEL

WHICH IS ALSO MENTIONED IN THE

LOGISTICS OF GETTING SOMEWHERE,

WHAT I WAS NEEDING CARE AND

GUIDANCE I WAS NOT PHYSICALLY

MOBILE, NOT TO THE POINT I AM

NOW. HAVING TO LUG AN OXYGEN

TANK AROUND AND RECOVERING FROM

DIFFERENT PROCEDURES IT WAS A

HUGE LOAD OFF OF MY SHOULDERS,

PARENTS SHOULDERS WHO WOULD HAVE

TO DRAG ME TO NEW YORK CITY TO

SEE DOCTORS. SO THAT HELPED A

LOT. AND MADE SORT OF -- WE WERE

ABLE TO FOCUS ON MY RECOVERY

RATHER THAN LOGISTICS SO HUGELY

HELPFUL.

>> ONE THING TO ADD, DURING THAT

TIME UNIQUE WITH COVID, LINK

WITH THE AL PA ONE FOUNDATION

COMMUNICATED WITH THE PATIENTS

FREQUENTLY SO THAT HELPED IN

ALSO WHAT WE NEEDED TO DO

THROUGH TELEMEDICINE BECAUSE

THEY HAVE SOME UNDERSTANDING

FROM THESE WEBINARS, WONDERFUL

WEBINARS, SO I THINK IT WAS

INTERESTING COLLABORATIVE CARE

FROM THE COMMUNITY OF PEOPLE

TAKING CARE OF PATIENTS IN THOSE

AREAS.

>> SPEAKING OF THAT, DO YOU

HAPPEN TO KNOW OF ANY

INITIATIVES OR THINGS HAPPENING

OR HAPPENING FOR DIFFERENT

POPULATIONS WITH DIFFERENT

HEALTH EQUITY ISSUES, BECAUSE

CAN'T JUMP ON A PHONE OR UTILIZE

RESOURCES. FAMILIAR WITH

ANYTHING HAPPENING?

>> THAT IS A GOOD -- MY -- OUR

HOSPITAL IN NEW YORK CITY AND

WASHINGTON HEIGHTS WE HAVE A

COMMUNITY OF PATIENTS THAT DON'T

HAVE RESOURCES. AS I SAID WE

HAVE BEEN COMMUNICATING THROUGH

TECHNOLOGY MOST OF THE TIME. AND

I THINK WE -- IT IS IMPORTANT TO

MAKE ADJUSTMENTS TO PEOPLE TO

ACCEPT NOT THE PERFECT VISIT,

SOMEONE IS ON THEIR CELL PHONE

IT IS OKAY AND I TAKE THE TIME.

THERE IS MANY PEOPLE ADVANCE

TECHNOLOGY BUT PEOPLE WORK AND

SOMETIMES THE ONLY TIME THEY CAN

VISIT IS UNFORTUNATELY INTO THE

BATHROOM OF THE WORKPLACE.

PHYSICIANS NEED TO BE

ACCOMMODATING TO PATIENTS NEEDS

ESPECIALLY NOW WHEN PEOPLE ARE

STRUGGLING AND THERE IS A LOT OF

ISSUES WE TRY TO FACILITATE

VISITS, WE DON'T WANT PATIENTS

TO BE LOST TO FOLLOW-UP. BECAUSE

OF THE STRESS THEY ARE UNDER

THOUGH WE OPENED UP, THEY MAY

NOT GET TO US. SO WE REACH OUT

AND SAY LET'S JUMP ON VIDEO

CALL, JUST CONNECT US SO WE CAN

SEE WHAT YOU ARE DOING.

>> THANK YOU. SO DR. GROPMAN,

WHERE DID YOU GO TO FIND

INFORMATION FOR TOOLS

RESEARCHERS TO USE TO CONTINUE

RESEARCH LIKE DATA ON

RECRUITMENT RETENTION RATES,

SATISFACTION SURVEYS NOT

AVAILABLE, DO YOU HAVE ANY

EXPECTATIONS OF HOW DATA LOOK?

>> AS PART OF THE RARE DISEASE

CLINICAL DISEASE RESEARCH

NETWORK PRINCIPLE INVESTIGATORS

OF THE OTHER CONSORTIA WOULD BE

GRAMMING THE SAME QUESTIONS AND

WE HAD GUIDANCE FROM NIH

PARTNERS AND DMCC SO THEY HELPED

US WITH THE LANGUAGE FOR MOVING

PROTOCOLS OVER TO HAVE E CONSENT

AND STANDARDIZE ACROSS ALL THE

CONSORTIUM. SO I THINK IT IS

DIFFERENT FOR EACH DISEASE

POPULATION IN TERMS OF HOW MUCH

FACE TO FACE WAS PART OF YOUR

DATA COLLECTION VERSUS OTHER DIS

DISDISORDERS MORE SURVEY BASED

AND THEY NEED TO SEE THE SAME

PATIENTS IN THE SAME MANNER FACE

TO FACE BUT THIS WAS STARTING

FROM THE GROUND UP BECAUSE THERE

WAS NO PLAY BOOK, NOBODY HAD

DONE IT, JUST TRYING TO FIGURE

IT OUT ON OUR OWN WITH GUIDANCE

FROM NIH CMCC AND OTHER

CONSORTIUM WHAT THEY HAD DONE.

SO I I THINK THERE'S DEFINITELY

GAPS IN THE DATA COLLECTED.

DURING THE TIME WE WERE ABLE TO

GET A PILOT STUDY APPROVED TO

COMPARE TRADITIONAL

NEUROCOGNITIVE TESTING WHICH IS

FACE TO FACE WITH THE NIH

TOOLBOX. AND DOING THE TOOLBOX

REMOTELY SO WE HAVE INFORMATION

ABOUT EFFECTIVENESS AND

APPLICABILITY OF THAT. AND HOW

IT COME PARIS TO TRADITIONAL

FACE TO FACE TESTING. I THINK

THAT IN OTHER WAYS WE CAME

TOGETHER AT CONSORTIUM TO

ADDRESS ISSUES WE NEVER HAVE SO

LOOKING AT ARE WE RECRUITING

PATIENTS FROM ALL ETHNIC

BACKGROUNDS. NOW THAT WE HAVE

TELEHEALTH IS THAT SOMETHING

THAT WILL IMPROVE OUR REACH

PATIENTS WHO DON'T PARTICIPATE

IN RESEARCH STUDIES. WHILE SOME

THINGS WERE DIFFICULT TO DO, IT

ALLOWED MORE INNOVATIVE AND MORE

INCLUSIVE AND LOOK DEEPLY AT

PATIENT TO MAKE SURE OUR DATA IS

APPLICABLE ACROSS ALL ETHNIC

BACKGROUNDS.

>> THANK YOU.

>> ONE NICE THING AS COVID MOVED

TO THE NEW PHASE, WE CAN USE

TELEHEALTH AS A BACK UP. SO WHEN

THE OMICRON SURGE CAME THROUGH

NEW YORK CITY IN LATE NOVEMBER

EARLY DECEMBER, WE SHUT DOWN

BACK TELEHEALTH AND REASSURED

SENT OUT MAILINGS SAYING THIS IS

TEMPORARY. SO I THINK OUR

PATIENTS CAN BEGIN TO LEARN HOW

TO ADJUST. SO EVEN IN THE

CLINICAL TRIALS,S WE MANAGE

COVID BY USING BRINGING PATIENTS

IN USING TESTING MAKING THEM

FEEL COMFORTABLE. IT IS VERY

IMPORTANT WE ARE LOOKING AT

SAFETY AND WOULDN'T BRING THEM

IN UNLESS THERE WAS A HUGE

SURGE. SO TELL HEALTH ALLOWS US

THAT FLEXIBILITY. -- TELEHEALTH

ALLOWS THAT FLEXIBILITY.

>> NOW THAT WE ARE MOVING INTO

ANOTHER PHASE OF THE PANDEMIC,

WHAT DO Y'ALL SEE DR. D'ARMIENTO

SPECIFICALLY, WOULD OUR

PHYSICIANS AND CLIENTS KEEP IT

GOING LIKE IT IS OR SOME TYPE OF

HYBRID, WHERE DO YOU THINK

FUTURE IS GOING TO

>> I THINK IT IS WHERE YOU

LOCATE BECAUSE IF YOU ARE

ALLOWED TO DO THAT BY

REGULATION, FOR TELEHEALTH. WE

INTEND AS LONG AS WE CAN TO KEEP

IT GOING AS A HYBRID, AS YOU

SAID. IT ALLOWS US TO SEE --

COVER MORE FOLLOW-UPS THAT MIGHT

BE REQUIRED. WE HAVE A PACKED

DIFFICULT TO SCHEDULE CLINIC AND

WE CAN EASILY ADD PEOPLE ON WHEN

TELEMEDICINE BECAUSE THEY JUST

WANT TO CONNECT WITH US. A LOT

OF PATIENTS ARE YOUNG AND

SOMETIMES HAVE QUESTIONS THAT

ARE NOT EVEN WHOLLY MEDICAL

QUESTIONS, NECESSARILY LIKE

PHYSICAL ISSUES BUT THEY HAVE

HEARD SOMETHING AND THEY NEED TO

TALK TO US. SO WE ARE NOW

DEVELOPING WAY WE CAN DO 15

MINUTES TO HAVE EVEN IF DOING --

SO HYBRID IS MOST IMPORTANT.

ALSO JUST ALSO HAVE TO REALIZE

TELEHEALTH REALLY DOESN'T WORK

WELL OBVIOUSLY IN ANY LIFE

THREATENING CONDITION. EXCEPT

COVID AND IN TERMS OF ACUTE

ILLNESS THAT REQUIRED

INTERVENTION AND ALSO SOME

PATIENTS MAY HAVE LOW DIGITAL

LITERACY BUT SOMETIMES REQUIRE

MORE INTERACTION IN THE VISIT WE

USED TRANSLATION SERVICES ON

TELL HEALTH BUT SOMETIMES THOSE

WORK BETTER IN PERSON SO YOU

HAVE TO JUDGE EACH OF THOSE

INDIVIDUALLY. I HOPE IT'S HERE

TO STAY. I REALLY DO. I THINK IT

HELPS US A LOT. I LIKE WHAT DR.

GROPMAN WAS SAYING WE CAN THINK

ABOUT WAYS TO INCORPORATE

TECHNOLOGY TELEHEALTH IN

RESEARCH, THAT WOULD BE GREAT

FOR RESEARCH STUDIES BECAUSE

SOMETIMES WORKING PATIENTS CAN

PARTICIPATE IN THOSE TRIALS AND

WHEN YOU HAVE OTHER METHODS THEY

CAN ENGAGE, AND NOT LOSE TIME AT

WORK YOU MIGHT GET MORE

PARTICIPATION.

>> THANK YOU. ANY SUGGESTIONS ON

FUTURE OF TELEHEALTH OR THINGS

YOU WOULD LIKE TO SEE?

>> ECHOING DR. D'ARMIENTO BUT I

DO HOPE IT IS HERE TO STAY AS

WELL FOR THOSE WHO AT BEST WORKS

FOR. I AS I MENTIONED EARLIER,

IT WORKED WELL FOR ME BECAUSE I

HAD WONDERFUL LOCAL

PULMONOLOGIST WHO WAS ACTUALLY I

WOULD GO TO AND HAVE TESTS DONE

AND SWORD OF GET THE GUIDANCE

AND INSIGHT FROM DR. D'ARMIENTO,

HAVING THAT IN PERSON CARE IS

NECESSARY, DEPENDING ON YOUR

NEEDS AND YOUR HEALTH BUT IN

TERMS OF JUST CONNECTING AND

GETTING INFORMATION AND THE

SCIENCE TELEHEALTH HAS BEEN

WONDERFUL RESOURCE FOR ME AND

FOR MY FAMILY. SO I HOPE IT IS

HERE TO STAY AND I PLAN TO

CONTINUE SEEING DR. D'ARMIENTO,

THAT WAY, UNTIL I CAN HOPEFULLY

MAKE IT THERE IN PERSON. WHAT

I'M NOT THERE IN PERSON THAT

MEANS THINGS ARE GOING WELL SO I

ALSO HOPE I DON'T SEE YOU IN

PERSON. SOON. KNOWING I HAVE

THEM AS RESOURCE MUCH MORE

EASILY THAN I WOULD HAVE

TELEHEALTH DIDN'T EXIST. SO I DO

HOPE IT IS HERE TO STAY.

>> THANK YOU. LAST COMMENTS FROM

DR. GROPMAN ON FUTURE OF

TELEHEALTH AND RESEARCH.

>> I THINK WHICH NEED TO

LEVERAGE WHAT TELEHEALTH AND

TECHNOLOGY CAN PROVIDE US FOR

YOU KNOW INVESTIGATIVE RESEARCH.

MONITORING FROM AFAR, THERE'S

SOME SORT OF MONITOR THAT CAN BE

SENT TO THE PATIENT, WEARABLE

DEVICES. I HI THE LID IS

PARTIALLY OFF OF THE BOX SO TO

SPEAK BUT WE REALLY NEED TO

DELVE INSIDE AND SEE HOW WE CAN

EXPAND TECHNOLOGY TO CAPTURE

EVENTS IN REAL TIME. IN

PATIENTS' LIVES THAT MAYBE MORE

MEANINGFUL THAN WE BRING INTO

OUR SITUATION TO EXPAND REACH

ACROSS GEOGRAPHIES AND PATIENTS

WHO WOULD BE ABLE TO CAP CAPTURE

AND TO REALLY PUSH THE

ENENVELOPE FORWARD AND JUST PUT

OUR HEADS TOGETHER AND THINK

ABOUT HOW WE CAN BE INNOVATIVE

AND CONDUCT RESEARCH THAT REALLY

INFORMS WHAT IS IMPORTANT TO THE

PATIENTS AND THEIR DAY TO DAY

LIVES.

>> THANK YOU SO MUCH ESPECIALLY

TO PANELISTS AND HEIDI, WE

CERTAINLY -- I CERTAINLY LEARNED

A LOT SO I HOPE THOSE WATCHING

ARE ALSO RECEIVING INFORMATION

TOO. THANK YOU.

>> WELCOME TO THE LAST SESSION

ABOUT JOURNEY DOWN THE LONG AND

WINDING ROAD OF DIAGNOSTIC

ODYSSEY FOR RARE AND UNDIAGNOSED

CONDITIONS. YOU MADE IT. IN

THIS SESSION WE BROUGHT YOU

PANEL OF NIH PROFESSIONALS,

PATIENTS, AND CAREGIVERS WHO

WILL SHARE HAIR EXPERIENCE FROM

THEIR DIAGNOSTIC ODYSSEY. ALSO

WE WILL PROVIDE YOU WITH USEFUL

TOOLS AND RESOURCES. OUR FIRST

PANELIST IS DR. CYNTHIA TIFFT

FROM THE NATIONAL RESEARCH

INSTITUTE, NIH. DIRECTOR OF THE

UNDIAGNOSED DISEASE Z PROGRAM

AND WILL PROVIDE A SHORT

OVERVIEW WHAT IS DIAGNOSTIC

ODYSSEY. OUR NEXT PANELIST IS

TROY EVANS. HE HAS BEEN

UNDIAGNOSED DISEASE FIGHTER FOR

15 YEARS. HE IS ANSWERING

UNDIAGNOSED DISEASE PROBLEM AS A

KNOWN UDM AS A PATIENT IN 2018

BY VISITING THE CLINICAL SITE.

OVER DIAGNOSTIC HAS NOT BEEN

MADE HE IS CONFIDENT UDM WILL BE

ABLE TO HELP HIM LIKE HAS MANY

OTHERS. OUR NEXT PANELIST IS

ERIKA. FROM TEXAS. HER YOUNGEST

DAUGHTER SEVEN YEARS OLD WAS UND

PATIENT AND DIAGNOSED BY A RARE

NEUROGENETIC DISORDER. OUR NEXT

PANELIST ARE MONIQUE AND HER

DAUGHTER VIVIANNE. BOTH ARE RARE

DISEASE PATIENTS AND TREATED AT

THE NIH. THEY DIEING MOST HICK

ODYSSEY IS A FAMILY STORY WHERE

ONE GENERATION FACES THE UNKNOWN

SO THE NEXT GENERATION CAN HAVE

A CHANCE TO LIVE A NORMAL LIFE.

OUR NEXT PANELIST IS TERRENCE

AND HIS DAUGHTER TERRAN FROM

SOUTH CAROLINA. TERRENCE IS A 20

YEAR VETERAN WITH DEPARTMENT

SOUTH CAROLINA. HIS DAUGHTER

TERRAN HAS BEEN COMING TO THE

NIH SINCE 2014, DIAGNOSE WITH

MESOTHELIOMA IN 2014 AND BEGAN

CLINICAL TRIAL THERE IN 2015.

FINALLY, OUR LAST PANELIST DR.

ERIC SID FROM THE NATIONAL

CENTER FOR TRANSLATIONAL

SCIENCES NIH. HE IS A PROGRAM

OFFICER OF THE OFFICE OF RARE

DISEASE RESEARCH ALSO KNOWN AS

ODR, HE WILL CONCLUDE OUR

SESSION. THANK YOU.

>> GOOD AFTERNOON. WELCOME TO

NIH RARE DISEASE DAY. IN THIS

SESSION YOU WILL HEAR SOME

COMPELLING STORIES FROM PATIENTS

AND CAREGIVERS ABOUT THEIR OWN

DIAGNOSTIC ODYSSEYS. WHAT IS

THE DIAGNOSTIC ODYSSEY? FOR

AUTHORITATIVE INFORMATION I

OFTEN LOOK TO WEBSTER, WHO

DEFINE DIAGNOSIS AS ACTIVE

IDENTIFYING DISEASE -- ACT OF

IDENTIFYING A DISEASE ILLNESS OR

PROBLEM BY EXAMINING SOMEONE OR

SOMETHING. COULD BE A CLINICAL

EVALUATION OR PERHAPS LABORATORY

TEST OR MANY SUCH EVALUATIONS

AND TESTS. DIAGNOSIS IS A

STATEMENT OR CONCLUSION THAT

DESCRIBES THE REASON FOR DISEASE

ILLNESS OR PROBLEM. THAT REASON

COULD BE A CLINICAL DESCRIPTION

BUT IN THE WORLD OF RARE

DISEASES, IT IS OFTEN A GENETIC

OR MOLECULAR DIAGNOSIS. ODYSSEY.

A ALONG WANDERING JOURNEY FULL

OF ADVENTURES AND CHANGES OF

FORTUNE. THESE JOURNEYS ARE WHAT

WE WILL HEAR ABOUT THIS

AFTERNOON. I WOULD ADD THAT SOME

PATIENTS IN OUR UNDIAGNOSED

DISEASE PROGRAM COMPLAIN NOT

THEY DO NOT HAVE A DIAGNOSIS,

BUT THEY HAVE TOO MANY DIAGNOSES

AND NONE OF THEM FIT THE

SYMPTOMS. UNDIAGNOSED

CONDITIONS EFFECT AT LEAST 3

MILLION AMERICANS. AND IN THE

UDP WE DIVIDE THEM INTO FOUR

POTENTIAL CATEGORIES. THE

CONDITION IS RARE, AND DIFFICULT

TO IDENTIFY, IT REPRESENTS AN

UNUSUAL PRESENTATION OF MORE

COMMON CONDITION. THE CONDITION

IS A BLENDING OF MORE THAN ONE

DIAGNOSIS. OR THE CONDITION

ACTUALLY IS UNIQUE AND

REPRESENTS A NEW DISORDER. FOR

MANY THESE ARDUOUS JOURNEYS ARE

VERY LONG. WITH AVERAGE LENGTH

OF EIGHT YEARS. THE RECEIVING

DIAGNOSIS CAN BE LIFE CHANGING

IN SEVERAL WAYS. DIAGNOSIS CAN

SOMETIMES OFFER POSSIBILITY OF

EXISTING TREATMENT. EVEN IN

ABSENCE OF DEFINITIVE TREATMENT

MAY PROVIDE POSSIBILITIES FOR

IMPROVE MANAGEMENT OR ACCESS TO

SERVICES. MOLECULAR OR GENETIC

DIAGNOSIS MAY OPEN FAMILY

PLANNING OPTIONS. DIAGNOSIS MAY

OFFER CHANCE TO JOIN ADVOCACY

GROUP WITH OTHERS. WHO ARE

SIMILARLY AFFECTED FOR MUTUAL

SUPPORT OR RAISE WARENESS OR

FUNDING FOR NEW THERAPIES. MOST

IMPORTANTLY, ALLOWS INDIVIDUALS

AND FAMILIES TO MOVE ON IN THE

NEXT PHASE OF THEIR BUSY LIVES.

SO IN THE RARE DISEASE SPACE IF

YOU ASK ME WHAT IS IN THE NAME I

WOULD HAVE TO SAY EVERYTHING.

NOW I INVITE YOU TO LISTEN TO

SOME STORIES LONG JOURNEY

PATIENTS AND CAREGIVERS.

>> I'M TROY EVANS UNDIAGNOSED

DISEASE MALE FROM UTAH,

NEUROMUSCULAR DISEASE FIGHTER

AND THAT KEY WORD FIGHT CROSSES

MY MIND MANY TIMES FOR DAY. MY

UNDIAGNOSE JOURNEY IS NOT

DIFFERENT FROM MOST, IN 2018 AT

AGE 33, I HAD THE OPPORTUNITY TO

BE SEEN BY DR. NELSON UNDIAGNOSE

DISEASE NETWORK TEAM UCLA

CLINICAL SIDE OF UDN, TO DATE I

REMAIN UNDIAGNOSED BUT I BELIEVE

THE DIAGNOSIS IS COMING. THE

JOURNEY PRIOR TO UNDIAGNOSE

DISEASE NETWORK BEGAN IN 2015 AT

AGE 21. WHEN I FIRST NOTICED

SOMETHING DIFFERENT I HAD GROWN

UP ATHLETIC AND HITTING EVERY

MAJOR PHYSICAL MILESTONE, I WAS

REGULARLY SICK AND CONSIDERED

MYSELF TO BE PRETTY GOOD

PHYSICAL SHAPE. I PARTICIPATED

IN MANY ACTIVITIES AND SPORTS.

UNTIL AFTER GOING FOR EXERCISE

RUN I NOTICE MY LEG MUSCLES WERE

UNUSUALLY SORE AND THAT SORENESS

LASTED FOR A IF OIDIAS WHEN IT

FINALLY WORE OFF I WENT RUNNING

AGAIN AND AGAIN HAD THE SAME

RESULT OF SORENESS. IN 2006

BROUGHT CONTINUED SORENESS IN

BEGINNING STAGES OF MUSCLE

WEAKNESS IN MY LEGS. I BEGAN

FALLING WHEN I TRIED TO SPRINT

AND I EVENTUALLY BECAME UNABLE

TO STAND UP OUT OF A SQUATTED

POSITION WITHOUT ASSISTANCE. SO

IN 2007 I SAW MY GENERAL

PHYSICIAN FOR THE FIRST TIME,

HALLIAN BASIC BLOOD TEST AND

CALLED ME BACK FEW DAYS LATER TO

REFER ME TO A LOCAL

NEUROMUSCULAR SPECIALIST,

BECAUSE HE WAS ALARMED AT HIGH

CK REPORT WITHIN THE BLOOD TEST.

A LITTLE DID I KNOW AT THAT TIME

THAT I WAS BEGINNING THIS

ODYSSEY THAT WOULD CHANGE MY

LIFE. FEBRUARY OF 2007 I WAS

REFERRED TO THE UNIVERSITY OF

UTAH FOR CLINICAL VISITS, WITH

NEUROMUSCULAR SPECIAL ITSELF DR.

BROMBERG, THOSE CONTINUED

ANNUALLY THROUGH 2018. I DID

NUMBER OF TARGETED GENETIC

TESTS, THAT FIRST OF FOUR EMG

TEST, A MUSCLE BIOPSY AND

FINALLY LATER IN 2007 DR.

BROMBERG BEGAN CALLING MY

CONDITION SMA 4 OR ADULT ONSET

SPINAL MUSCULAR ATROPHY. THIS

DESPITE NORMAL TEST RESULTS FOR

MUTATIONS IN THE SMN 1 AND SMN 2

GENES. THUS BEGAN A PATTERN OF

LATE NIGHT GOOGLE SEARCHES WITH

HIS BLESSING I REQUESTED TO SEE

OTHER SPECIALISTS AT THE

UNIVERSITY OF UTAH AND OTHER

TIME MET WITH DR. FLANAGAN AND

DR. ZABOTA B WE DID ADDITIONAL

BLOOD TESTS EMG TESTS, THE

CONCLUSION OF WHICH THEY WERE

UNAWARE OF ANY OTHER POSSIBLE

DISEASE TESTS OR PROGRAMS THAT

COULD HELP MY CASE. SO AS YOU

CAN IMAGINE BACK TO GOOGLE I

WENT. IN 2011 BEGAN

CONVERSATIONS WITH DR.

(INAUDIBLE) CEDARS SINAI IN LOS

ANGELES ACCOMPANYD BY MY FATHER

I MET WITH HIM AND DR. LOUIS

WHERE THEY PERFORMED ANOTHER EMG

TEST AND LIKE SPECIALISTS AT THE

UNIVERSITY OF UTAH THEY WERE

ALSO STUMPED AS TO A POSSIBLE

DISEASE. THEY ALSO INTRODUCED TO

ME DESCRIBED NEW WAY OF ADVANCE

GENETIC TESTING THAT WAS

SUPERIOR TO THE TARGETED SMN

GENETIC TESTING THAT I

PREVIOUSLY DONE. SO AFTER PAYING

A DISGUSTINGLY LARGE SUM OF

MONEY AND WAITING UPWARDS OF SIX

TO EIGHT MONTHS JENNIE X SENT

BACK MY WHOLE SEQUENCING EXOME.

SCIENCE PROGRESSED AND MADE IT

MUCH MORE EFFICIENT. BUT THE

GENE REPORT SHOWED SOME SLIGHT

OR POSSIBLE VARIANTS BUT AFTER

FURTHER RESEARCH NOTHING

RESULTED IN ANY ADDITIONAL

INSIGHTS SO BACK TO GOOGLE I

WENT. THIS TYPE OF PROCESS

CONTINUED FOR QUITE SOME TIME.

OVERALL TESTS AND CLINICAL

VISITS BROUGHT MISDIAGNOSIS AS

KSA -- DAY SACKS, SPINAL

MUSCULAR ATROPHY, LYNN GIRDLE

MUSCULAR DYSTROPHY, SO FORTH.

TODAY I CAN STILL WALK WITH

ABNORMAL GATE THAT LOCKS MY

KNEES, WITHOUT ASSISTANCE I'M

UNABLE TO STAND UP FROM A CHAIR

OR WALK UPSTAIRS. INCLINES OR

EVEN UNEVEN SURFACES. THOSE DAYS

OF PLAYING SPORTS AND RUNNING

AND RACING MOTORCYCLES ARE OVER

FOR NOW. AND THE DIFFERENCE

TODAY EVEN THOUGH DURING THE

STATUS REMAINS THE SAME AS IT

DID WHEN I STARTED THIS IN 2006,

IS THE FEELING OF PRESSURE TO

CONTINUES TO LOOK FOR NEW TESTS

NEW SPECIALISTS OR DISCOVERIES

THAT I FELT PRIOR TO ADMITTED TO

UNDIAGNOSED DISEASE NETWORK IS

GONE. I AM CONFIDENT IN THE UDN

AND THE TEAM THAT THE NIH FORMED

WITHIN UDN TO SUPPORT PEOPLE

LIKE NEE THIS UNDIAGNOSED

DISEASE JOURNEY AND AM CONFIDENT

THAT A DIAGNOSIS WILL COME

THANKS TO THE HELP OF THE UDM.

>> PI I'M ERIKA COX, AVA'S MOM.

AVA IS A UDN PARTICIPANT AND

HEROINESSIC JOURNEY ENDED MARCH

26, 2019. AVA WAS DIAGNOSED WITH

CDCK ASSOCIATE CONDITION A NEW

GENETIC DISORDER THAT WAS

DISCOVERED IN 2016. TVCK IS A

RARE NEUROGENETIC DISORDER, THE

DISEASE IS AUTOSOMAL RECESSIVE,

MEANING BOTH PARENTS HAVE TO

CARRY THE SAME PATIENT FOR TDCK.

THERE ARE VARIANTS WITHIN THE

DISEASE THAT CAUSE A SPECTRUM OF

SYMPTOMS AND CONDITIONS. LIKE

MANY DISEASES THERE IS A RANGE

OF THE CONDITION AND SEVERITY OF

IMPACT OF TDCK. IN GENERAL THE

MAJOR CONDITIONS ARE RELATED TO

HYPERTONEIA, LOW MUSCLE TONE,

EPILEPSY AND INTELLECTUAL

DISABILITY. THE NEW DISEASE IS

ALSO SO NEW THAT MORE RESEARCH

IS NEEDED TO DEEPEN WITH

UNDERSTANDING OF THE SYMPTOM.

BECAUSE EVERY KID DIAGNOSED WITH

TBCK EXHIBITS DIFFERENT THINGS

THOUGH PHYSICALLY THEY LOOK

SIMILAR, THEY HAVE DIFFERENT

SKILL SETS, SO THERE IS A

FOUNDATION ONGOING RESEARCH

CHILDREN'S HOSPITAL PHILADELPHIA

AND SHE HAS OVER 100 FRIENDS

AROUND THE WORLD WITH HER SAME

DIAGNOSIS. HER YOUR METASTASIS

TO DIAGNOSIS BEGAN IN 2014. SHE

KEPT HER HEAD AND NECK TURNED TO

ONE SIDE LATER CALLED OR I

LEARNED LATER CALLED (INAUDIBLE)

HER SUTURE IN BRAIN WAS OPEN

WHEN FUSED CLOSED WHEN SHOULD

HAVE STILL BEEN OPEN.

(INDISCERNIBLE) HER HEAD WAS

MISSHAPEN AND BECAUSE THE SUTURE

WAS CLOSED WILL CAUSE HER HEAD

TO BE DIAGONAL IF SHE DIDN'T

HAVE SURGERY TO OPEN THE SUTURE

AN WEAR A MEDICAL HELMET TO

RESHAPE HER HEAD. I WAS TOLD IT

WAS NOT UNCOMMON BECAUSE SHE WAS

BREECH. SHE WASN'T REACHING

MILESTONES DESPITE PHYSICAL

THERAPY. THAT WAS THE BEING OF O

MULTIPLE DOCTOR VISITS AROUND

THE COUNTRY, TRYING TO FIND OUT

WHAT WAS WRONG WITH ASIA ASIA.

IT DIDN'T PROVIDE ANSWER BECAUSE

BECAUSE TBCK WASN'T DISCOVERED

UNTIL 2016. THOSE FALSE

STATEMENTS GAVE US FALSE HOPE

ABOUT AVA'S FUTURE AND HER

REACHING MILESTONES WERE WAITING

FOR. AFTER COUNTLESS

APPOINTMENTS AND A FEW SNAKE OIL

SALESMEN PRAYING ON OUR

VULNERABILITY FOR AN ANSWER I

WAS LED TO UDM BY POSTS ON

FACEBOOK GROUPS I'M PART OF

BECAUSE THEY HAD SIMILAR SIMILAR

SYMPTOMS TO AVA. HER DIAGNOSIS

IS EVEN MORE RARE LIKE I SAID

BECAUSE TWO PARENTS HAD TO BE

CARRIERS TO HAVE THE TBCK CHILD

AND THAT IS NOT OUR CASE WHICH

MAKES HER MEDICAL TERM DE NOVO.

AND OUR ULTRA RARE TDCK WARE

YOUR. SHE HAS A HUGE SMILE AND

CONTAGIOUS LAUGH. CURRENTLY SHE

WALKS WITH ASSISTANCE, AND SHE

WALKS ON THE TREADMILL, HER

LONGEST TIME TO DATE IS 11

MINUTES WHICH IS A HUGE

ACCOMPLISHMENT. AVA IS

NON-VERBAL BUT SUPER LOUD. THE

LOUDEST NON-VERBAL CHILD EVER.

SHE IS IN SPEECH THERAPY AND WE

ARE CONFIDENT WITH THE MEDICAL

ADVANCEN'T AND RESEARCH SHE WILL

WALK AND TALK ONE DAY IN THE

NEAR FUTURE.

>> HEY EVERYONE MY NAME IS

MONIQUE AND MY NAME IS VIVIAN.

>> WE ARE DIAGNOSED WITH

(INAUDIBLE) CLOSE.

>> CTLA 4 HAPPEN PLEA

INSUFFICIENCY, AND WE WERE

DIAGNOSED IN 2014 AND THAT IS

IMPORTANT BECAUSE THAT IS THE

FIRST YEAR THAT ANY DOCTORS

DESCRIBED, IT WAS DR. SEVERAL AN

COLLEAGUES AT THAT TIME NIH AND

I THINK IT IS SUPER IMPORTANT WE

WERE DIAGNOSED THAT YEAR BECAUSE

AS I BROUGHT A TON OF HOPE TO MY

TAUGHT EAR DAUGHTER'S JOURNEY.

BASICALLY EVERYONE HAS A CTLA 4

GENE AND IT MAKES THE CTLA 4

PROTEIN. THIS PROSTEEN IS SUPER

IMPORTANT IN IN IN YOUR IMMUNE

SYSTEM BECAUSE IT'S THE BRAKES

TO YOUR.

IMMUNOSYSTEM, AND WE DON'T MAKE

THAT PROTEIN SO OUR IMMUNE

SYSTEM IS IN OVERDRIVE ALL THE

TIME AND I KNOW THAT SOUNDS LIKE

A GOOD THING LIKE OH MAN YOU

MUST NEVER GET SICK BECAUSE YOUR

IMMUNE SYSTEM IS PUTTING IN WORK

BUT HONESTLY THAT'S FAR FROM THE

TRUTH. SORRY.

>> THIS ACTUALLY CAUSES BIG

ISSUES AND SPECIFICALLY

AUTOIMMUNE ISSUES. I DID ASK DR.

(INAUDIBLE) LAST TIME ABOUT TWO

WEEKS AGO HOW MANY WORLDWIDE

HAVE THIS DISEASE, HOW RARE IS

IT AND SHE TOLD ME ME THAT ONLY

ABOUT 500 PEOPLE ARE DIAGNOSED

GLOBALLY WITH THIS DISEASE SO I

WAS REALLY SHOCKED TO HEAR THAT

HOW RARE WE WERE, I DO NOT

BELIEVE WE WERE THAT RARE

BECAUSE IT IS A GENETIC THING.

SO SINCE IT IS A GENETIC THING

THAT MEANS THAT IT CAN BE PASSED

FROM GENERATION TO GENERATION

AND BECAUSE OF THAT, OUR

DIAGNOSIS ODYSSEY INVOLVES A LOT

OF OUR FAMILY. AND OUR EXTENDED

FAMILY I DID ATTEND A LOT OF

FUNERALS GROWING UP FOR OUR

FAMILY MEMBERS AND LOOKING BACK

ON THAT NOW THROUGH THE LENS

THAT WE HAVE NOW KNOWING WHAT WE

KNOW NOW, WE REALIZE THAT A LOT

OF THOSE DEATHS COULD HAVE BEEN

CTLA 4 RELATED. TO MY IMMEDIATE

FAMILY MY MOM, MY BROTHER AND ME

WERE ALL POSITIVE FOR THE CTLA 4

DEFICIENCY BUT HONESTLY

THROUGHOUT OUR ODYSSEY OUR

DIAGNOSIS ODYSSEY WE DIDN'T

REALIZE THAT THERE WAS AN

UNDERLYING ISSUE THAT WAS WRONG

WITH US. WE DIDN'T REALIZE THAT

WE WERE MEDICALLY WEIRD OR THAT

WE WERE UNDIAGNOSABLE OR THAT WE

WERE RARE AT ALL. AND THERE ARE

TWO REASONS FOR THIS, NUMBER ONE

IS BECAUSE THIS DISEASE PLAYS

DIRTY, BECAUSE IT MAKES YOU FEEL

LIKE YOU ARE BEING DIAGNOSED. WE

WOULD GET SICK, WE WOULD GO TO

THE DOCTOR, WE WOULD BE

DIAGNOSED WITH AUTOIMMUNE

DISEASE AND THEN WE WOULD

RECEIVE TREATMENT FOR THEM. THE

OTHER REASON THAT WE DON'T

REALLY -- WE DIDN'T REALIZE WE

WERE SICK IS BECAUSE EACH ONE OF

US HAD OUR OWN LITTLE UNIQUE

AUTOIMMUNE ISSUES OUR OWN UNIQUE

MIX OF AUTOIMMUNE ISSUES WE WERE

DEALING WITH. NONE HAD THE SAME

ISSUE US HAPPENING AT THE SAME

TIME AND SO WE THOUGHT THAT WE

ARE UNLUCKY WE HAVE AUTOIMMUNE

ISSUES BUT IT JUST RUNS IN THE

FAMILY. THERE'S NOTHING CAUSING

IT, IT IS JUST IT RUNS IN THE

FAMILY. NOW, DON'T GET ME WRONG,

WE DID HAVE A HARD TIME, WE WERE

IN AND OUT OF HOSPITALS, AND IN

AND OUT OF ERs, THERE WERE

SOME AUTOIMMUNE ISSUES THAT ARE

A LOT RARER THAN OTHERS AND WE

-- IT TOOK A LONG TIME FOR US TO

BE DIAGNOSED OR GET DIAGNOSIS

FOR SOME ISSUE BUT THROUGHOUT

THE ODYSSEY WE WEREN'T BEING

DIAGNOSED AND WE WERE RECEIVING

TREATMENT. SO WE DID NOT THINK

THAT WE NEEDED TO BE LOOKING FOR

ANYTHING MORE. SO JUST TO GIVE

YOU AN IDEA OF HOW UNLINKED WE

WERE, HOW UNLINKED ALL OF OUR

DISEASES WERE, MY MOM AND MY

BROTHER HAVE THREE DISEASES,

THREE AUTOIMMUNE ISSUES THAT ARE

THE SAME AND THE REST ARE

DIFFERENT. MY MOM THAT HAS 15

AUTOIMMUNE ISSUES MY BROTHER HAS

14 AUTOIMMUNE ISSUES. BUT ONLY

THREE OF THEM OVERLAPPED. I

PERSONALLY CONSIDERED

ASYMPTOMATIC TO HAVE CTLA 4

DEFICIENCY, I ONLY HAVE

HYPOTHIGH THYROIDISM, I HAVE

PSORIASIS AND ECZEMA.

>> I HAVE HYPOTHYROIDISM AND

TUBE 1 DIABETES. SO

>> SO SHE HAS TWO AUTOIMMUNE

DISEASES.

>> THANK GOODNESS. THAT IS

BECAUSE OF MY BROTHER BROTHER

AND NOER THIS THEIR GENERATION

FINDING A DIAGNOSIS. SO AFTER

YEARS OF SICKNESS FOR MY BROTHER

AND MOTHER AND THEN GETTING ALL

OF THESE AUTOIMMUNE DIAGNOSIS,

MY BROTHER FINALLY DEVELOPED ONE

THING THAT THEY HAD NO IDEA WHAT

IT WAS. AND IT'S THE THING THAT

FINALLY LED TO US TO FIGURE OUT

WHY WE HAD SO MANY AUTOIMMUNE

ISSUES. HE DEVELOPED LESIONS ALL

IN HIS BRAIN AND ALL DOWN HIS

SPINAL CORD AND DOCTORS HAD

ABSOLUTELY NO ANSWERS FOR US.

THEY SENT HIM TO MD ANDERSON, HE

RECEIVED CHEMO THERE AND HE

RECEIVED SEVERAL TREATMENTS AT

THE VA HOSPITAL IN HOUSTON BUT

THEY HAD NO ANSWERS AND WE HAVE

BEEN LOOKING FOR ABOUT A YEAR AT

THIS POINT AND HE WAS DECLINING

RAPIDLY, HE WAS AT THE VA, HE

WAS INPATIENT, THEY HAD HIM ON

COMFORT MEDS ESSENTIALLY WAITING

FOR HIM TO PASS AWAY AND THEY

DECIDED TO DO A BIOPSY OF ONE OF

THE LESIONS IN HIS BRAIN. SO

THEY DID THE BIOPSY, THEY PUT

HIM ON SLIDES AND SENT HIM OUT

ACROSS AMERICA TO THESE

DIFFERENT RESEARCH HOSPITALS TO

TRY TO GET ANSWERS BECAUSE WE

WERE DESPERATE. WE HAD HOPE THAT

SOMEBODY SOMEWHERE WOULD

RECOGNIZE WHAT THIS IS BUT

UNFORTUNATELY WHEN THE ANSWERS

CAME BACK, NOBODY KNEW WHAT IT

WAS AT ALL. WE WERE LEFT WITH NO

ANSWERS. A RANDOM LAB TECH SAID

WE DIDN'T TRY NIH LET'S SEND

WILL. SO THEY SENT THE SAMPLES

TO NIH AND SOMEHOW GOT TO THEIR

IMMUNOLOGY DEPARTMENT AND THEY

WERE LIKE YOU KNOW WE THINK WE

HAVE AN ANSWER FOR YOU, LET'S

RUN BLOOD TESTS AND THEY RAN THE

BLOOD TESTS, HE WAS POSITIVE FOR

CTLA 4 DEFICIENCY. HE WAS IN

REALLY BAD SHAPE AT THAT POINT

BUT SOMEHOW MY PARENTS WERE ABLE

TO GET MY BROTHER OUT OF THE

HOSPITAL AND FLY HIM FROM TEXAS

TO BETHESDA AND HE STARTED THE

LONG ROAD TO RECOVERY. IT IT WAS

A VERY LONG TIME BEFORE HE WAS

OKAY BUT THEY SAVED HIS LIFE

WITH THE TREATMENT THEY GAVE

HIM. SO CHARLIE AND MY MOM WHO

ARE THE SICKEST OUT OF OUR

FAMILY, OUR IMMEDIATE FAMILY,

GOT US TO OUR DIAGNOSIS. AND

THAT OPENED UP A WHOLE NEW WORLD

FOR OUR FAMILY. AND THAT'S WHEN

MY DAUGHTER'S STORY STARTS.

HERS STARTS AFTER DIAGNOSIS IN

2014, HOW OLD WERE YOU WHEN WE

WERE DIAGNOSED? DO YOU REMEMBER?

>> 3.

>> YOU WERE THREE. AND WE

STARTED -- WE WERE ADDED ON TO

THE RESEARCH PROTOCOL AT THE NIH

AND WE WOULD GO YEARLY FOR CHECK

UPS BECAUSE WE WERE ASYMPTOMATIC

NOT HAD ANY PROGRESSION IN THE

DISEASE AND WHAT HAPPENED, BABY?

>> WHEN I WAS SIX THEY DIAGNOSED

ME WITH HYPOTHIGH THYROIDISM AND

WHEN SEVEN THEY DISCOVERED I HAD

DIABETES.

>> WHAT TYPE OF DIABETES?

>> 1.

>> TYPE 1 DIABETES. SO SHE HAD

STARTED TO DEVELOP AUTOIMMUNE

ISSUES AND THEY CAUGHT HER TYPE

1 DIABETES EARLY ENOUGH THEY

STARTED TREATMENT IMMEDIATELY TO

STOP THE PROGRESSION OF THE

DESTRUCTION OF HER PANCREAS, THE

BETA CELLS IN

MS. PANCHAL: CREEIUS.

>> THEY ARE LIKE YOU BETTER STOP

PROGRESSING OR ELSE.

>> THEY WERE. SO WE STARTED IN

2019,S GOING TO THE NIH EVERY

TWO WEEKS FOR HER TO RECEIVE

MEDICATION THAT REPLACE --

ESSENTIALLY REPLACES HER CTLA 4

PROTEIN AND AT HOME SHE TAKES

MEDICATION TO BRING HER IMMUNE

SYSTEM DOWN SO THAT IT'S NOT IN

OVERDRIVE. SO DO YOU REMEMBER

THOSE FIRST FEW WEEKS WHEN WE

WERE GOING TO THE NIH A LOT? DO

YOU REMEMBER IT? DO YOU REMEMBER

GOING TO THE NIH HOW DID YOU

FEEL FIRST GOING THERE?

>> SCARED.

>> WHAT MADE YOU SCARED??

>> THE SHARP THINGS.

>> THE SHARP THINGS, YEAH. SO WE

WERE GOING EVERY TWO WEEKS FOR A

WHILE AND THEN FOR ABOUT TWO

YEARS WE DID EVERY FOUR WEEKS

TRAVELING FROM TEXAS TO

BETHESDA. AND HERE RECENTLY THEY

CHANGED US NOW WE ARE GETTING TO

TRAVEL EVERY SIX WEEKS. SO THE

TREATMENT IS WORKING FOR HER.

SHE -- H HER AUTOIMMUNE LEVELS

ARE TRENDING DOWNWARD. SHE

HASN'T DEVELOPED ANY MORE

AUTOIMMUNE DISEASES AND HER TYPE

1 DIABETES HAS NOT PROGRESSED.

SHE STILL HAS ALMOST ALL FULL

PANCREATIC FUNCTION. SO THAT IS

WHERE I FEEL LIKE OUR DIAGNOSIS

ODYSSEY IS DIFFERENT FROM MOST

PEOPLE, BECAUSE MOST PEOPLE THAT

ARE UNDIAGNOSED OR HAVE A RARE

DISEASE THEY STRUGGLE THROUGH

GETTING THE DIAGNOSIS. AND THEN

THEY HAVE TO STRUGGLE TO FIND A

CURE OR A TREATMENT. WITH

VIVIAN, WITH HER STORY, MY

PARENTS -- MY BROTHER AND MOTHER

THEIR GENERATION STRUGGLED TO

FIND A DIAGNOSIS. BUT VIVIANNE

GETS TO REAP THE BENEFIT OF

THEIR STRUGGLE AND SHE DOESN'T

HAVE TO PUT UP WITH THE DISEASE

DESTROYING HER BODY BECAUSE SHE

CAN GO STRAIGHT TO THE

TREATMENT. SHE DOESN'T HAVE TO

GO THROUGH THE TROUBLE OF GOING

THROUGH ALL OF THAT DIAGNOSIS

LIKE MY BROTHER AND MOTHER DID.

I THINK OF IT THIS WAY.

DIAGNOSIS, DISCOVERY OF THE

DISEASE WAS THE CEILING FOR MY

MOM AND BROTHER. THEY WILL

FOREVER LIVE WITH THE

DESTRUCTION THAT THIS DISEASE

HAS DONE TO THEIR BODY. THEY ARE

STILL LIVING WITH IT. HE STILL

HA LESIONS IN HIS BRAIN, THEY

ARE SMALLER BUT HE STILL HAS

LEAGUES. MY MOM YESTERDAY JUST

HAD 38 POLYPS REMOVED FROM HER

STOMACH. SHE IS STILL STRUGGLE,

THEY ARE STILL STRUGGLING BUT

THEIR CEILING IS MY DAUGHTERS

FLOOR BECAUSE THEY GOT THEIR

DIAGNOSIS, SHE IS ABLE TO GET

THE TREATMENT RIGHT AWAY, AND SO

HER AND HER FUTURE KIDS REAP THE

BENEFITS OF THE STRUGGLE OF MY

MOM AND MY BROTHER WHAT THEY PUT

IN. IT IS A NEW TRACK FOR MY

DAUGHTER AND ME IF I EVER START

PROGRESSING THAT MY MOTHER AND

BROTHER WON'T EVER GET TO

EXPERIENCE. THE SEARCH FOR THE

ANSWER, SEARCH FOR WHY WE HAD SO

MANY AUTOIMMUNE DISEASES, WAS

ESSENTIALLY COPING FOR MY MOTHER

AND BROTHER BUT THE SEARCH FOR A

CURE FOR MY DAUGHTER, IS THE

OPPORTUNITY FOR HER TO HAVE A

NORMAL LIFE.

>> HELLO, EVERYONE. MY NAME IS

TERRENCE AND THIS IT SEEMS TO ME

DAUGHTER TERRAN. AND WE ARE

EXTREMELY EXCITED TO BE ON THIS

ODYSSEY WITH YOU ALL. TO BEGIN

WITH, MY DAUGHTER AT AGE 14 SHE

WAS DIAGNOSED WITH MESOTHELIOMA

AND I'M GOING TO LET HER SHARE

HER STORY BUT FIRST MESOTHELIOMA

IS VERY, VERY RARE IN KIDS. SO

AT AGE 14 WE SEEN SOME THINGS

GOING ON WITH HER BODY THAT WE

DID NOT UNDERSTAND. SO ONE OF

THE BIGGEST THINGS THAT WE SAW

WAS HER LEGS SWELLING FROM HER

KNEES DOWN TO HER FEET. AND

THAT WAS VERY CONCERNING TO ME

AND HER MOM. SO WE WOULD HAVE

HER GO TO THE DOCTOR, GET THINGS

CHECKED AND THEY THOUGHT THAT IT

WAS MOSTLY IN HER KIDNEYS. THE

DOCTOR AT THE TIME DIDN'T THINK

ABOUT ANY TYPE OF CANCER. SO

BEFORE WE HAD ANOTHER

APPOINTMENT SET, AND BEFORE SHE

WAS ABLE TO GO TO THAT

APPOINTMENT SHE PASSED OUT IN

SCHOOL. SO AT THAT TIME WE STILL

DIDN'T KNOW WHAT WAS GOING ON SO

I GOT TO THE SCHOOL, HER SPEECH

WAS SLURRED, SHE WAS TRYING TO

STAY A AWAKE AT THE TIME. AND

SHE WAS TRYING TO EXPLAIN TO ME

WHAT HAPPENED, AND SHE DID

PRETTY GOOD JOB EXPLAINING TO ME

WHAT WAS GOING ON BUT STILL YET

THERE WAS A LOT OF CONCERN

BECAUSE OF THE WAY SHE LOOKED

LAYING ON THE BED AT THE SCHOOL.

SO WE GOT HER TO THE HOSPITAL,

THE DOCTOR AT OUR LOCAL HOSPITAL

TOLD US THAT SHE HAD BLOOD CLOTS

IN HER LEGS. AND THE REASON

BEING THAT HERE AT OUR HOSPITAL

THEY POUND THE BLOOD CLOTS BUT

THEY DID NOT SEE THE TUMOR. SO

LATER ON WHEN WE ENDED UP GOING

TO -- BECAUSE WE DON'T HAVE A

CHILDREN'S HOSPITAL HERE, SHE

HAD TO GO TO COLUMBIA, SOUTH

CAROLINA, TO CHILDREN'S HOSPITAL

THERE THEY FOUND TUMOR IN METHOD

SECTION AND STILL DIDN'T KNOW

WHAT IT WAS SO WE CAN UNDERSTAND

JOURNEY OF Y'ALL BEING

UNDIAGNOSED BECAUSE THE

CHILDREN'S HOSPITAL SAW

SOMETHING THEY NEVER HAD DEAL

WITH BEFORE THOUGH AT HER AGE

SHE WAS ABLE TO GO TO CHILDREN'S

HOSPITAL. BUT BUT IT WAS STILL A

CONCERN. SO WE WENT TO COLUMBIA,

THEY DID BIOPSY, SEND TO

MASSACHUSETTS, GOT RESULT BACK

AND IT URNED OUT TO BE

MESOTHELIOMA BUT MORE

SPECIFICALLY IT WAS PAIR TA

KNEEL IN HER MID SECTION. SO

WHAT HAPPENED THE BLOOD CLOTS IN

HER LEGS THEY BROKE OFF AND WENT

INTO HER LUNGS AND THAT MADE HER

PASS OUT IN SCHOOL. SO THE TUMOR

WAS SO BIG THAT IT WAS ACTUALLY

COMPRESSING HER BLOOD VESSELS IN

HER MID SECTION SO THAT SHE

WASN'T GETTING ENOUGH OX GENERAL

GOING ON SO WHEN BLOOD CLOTS DID

BREAK OFF ENDED UP TO HER LUNGS

SO THAT'S WHY SHE PASSED OUT

MANY SCHOOL BECAUSE OF THE BLOOD

CLOTS. I'M GOING TOND AND LET

HER TELL HER SORRY BECAUSE IT IS

HER STORY BUT I WAS PART OF YOUR

NCI OF TRYING TO FIND OUT WHAT

WAS GOING ON WITH HER. SO TAKE

IT AWAY.

>> LIKE MY DAD SAID I WAS

DIAGNOSED WITH MESOTHELIOMA. I

DIDN'T FIND OUT UNTIL JUNE OF

2014. AND I STILL REMEMBER THAT

DAY BECAUSE I WAS GOING TO --

EARLY IN THE MORNING AND WALKING

UPSTAIRS AND BEING SO WINDED, IT

WAS JUST LIKE OUT OF NOWHERE

REALLY AND -- YEAH, I WAS GOING

TO LUNCH AND THAT IS WHEN I

PASSED OUT IN THE GIRL'S

RESTROOM. AND REALLY WAS JUST

FROM THAT MOMENT FORWARD, THIS

WHOLE ODYSSEY OR JOURNEY, IT WAS

JUST LIKE REALLY JUST KEPT THE

BALL GOING AND. I'M GRATEFUL

THAT THE BALL SLOWED DOWN. BUT

I'M ALSO VERY GLAD THAT EVEN

THOUGH THE REASON WAS NOT THE

GREATEST, BUT THE FACT THAT I

HAVE GOT TO TRAVEL AND MEET ALL

SORTS OF DIFFERENT PEOPLE AND I

HAVE GOT TO SPEAK IN SOME SPACES

THAT I HAVE NEVER THOUGHT I

WOULD GET A CHANCE TO SPEAK AT,

I'M VERY GRATEFUL AND I TRY TO

LOOK AT THE POSITIVE SIDE AND

EVEN THOUGH NO ONE TELLS ANYBODY

THIS, BEING DIAGNOSED WITH

CANCER CAN REALLY -- IT CAN

REALLY MESS WITH YOUR MENTAL

STATE JUST A LITTLE BIT. AND

I'M GLAD THAT I HAVE OVERCOME

MAPPING ZITY AND MY DEPRESSION.

I'M GRATEFUL FOR THE MEMORIES

THAT I HAVE WITH PEOPLE THAT ARE

UNFORTUNATELY HERE WITH US

TODAY. JUST REALLY GRATE. . I

JUST CAN'T WAIT TO SEE WHAT THE

FUTURE HAS IN STORE FOR ME AND

FOR ALL OF YOU.

>> THIS IS ERIC SID FROM OFFICE

OF RARE DISEASE RESEARCH AGAIN.

I WANTED TO FIRST START BY

SAYING WE WANT TO THANK ALL OF

OUR DIFFERENT PATIENT SPEAKERS

FOR THEIR AMAZING STORIES AND

OPPORTUNITY TO HEAR FROM THEM.

ONE OF THE THINGS THAT YOU

PROBABLY NOTE FROM THE DIFFERENT

STORIES IS THAT THIS IS REALLY A

DIAGNOSTIC ODYSSEY. I'M ON THE

SCREEN YOU ARE ALSO SEEING

GRAPHICS PULLED FROM THE EVERY

LIFE FOUNDATION REPORT ON BURDEN

OF RARE DISEASE. WHAT I WANTED

TO CALL YOUR ATTENTION TO IS THE

FACT THAT THIS ENTIRE DIAGNOSTIC

ODYSSEY PROCESS TAKES MANY,

MANY, MANY YEARS. AS WELL AS GO

THROUGH MANY DIFFERENT

SPECIALISTS. THIS IS NOT

UNCOMMON IN DIAGNOSIS. WHAT YOU

SEE ON THE TOP LEFT IS A

BASICALLY MODEL THAT COMES FROM

NATIONAL ACADEMIES OF SCIENCE

ENGINEERING AND MEDICINE THAT

SHOWS YOU SOME OF THE ISSUES

AROUND HOW DIAGNOSTIC WORKS IN

ISSUES AROUND THERE. THERE'S A

SICK CLICK PROCESS HERE OFTEN

TIMES WHERE PATIENTS STARTING TO

GET DIAGNOSTIC GOING THROUGH

DIAGNOSTIC PROCESS WILL START

GATHERING INFORMATION WITH THEIR

PROVIDER AND THEN START

INTEGRATING DIFFERENCE TYPES OF

LABS AND OTHER MEASURES THEN

GOING THROUGH WORKING DIAGNOSES

AND CYCLE THAT OVER AND OVER

AGAIN. SO THAT UN UNFORTUNATELY

THAT O PROCESS IS NORMAL FOR

RARE DISEASE BECAUSE WE MAY NOT

HAVE EXACT TEST ABLE TO DIAGNOSE

MANY RARE DISEASES BUT ALSO IT

CAN TAKE A WHILE BEFORE IF THERE

IS ONE FOR PROVIDER TO KNOW TO

ORDER IT SO PART OF THE ENTIRE

ISSUE IS UNDERSTANDING THAT THIS

IS A JOURNEY, AS A WHOLE, THAT

MANY DIFFERENT PATIENTS OF RARE

DISEASE WILL FACE. AND PART IS

UNDERSTANDING WHO YOU NEED TO

REACH OUT TO AND CONNECT WITH,

THIS METHOD I SHOWED EARLIER ON

THE RIGHT HAND SIDE IS PATIENT

JOURNEY MAP TOWARDS DIAGNOSIS BY

THE NATIONAL ORGANIZATION FOR

RARE DISEASE, NORD, THEY CALL

ATTENTION TO THE ROLE OF PRIMARY

CARE PROVIDE A Z WELL AS HOW YOU

YOU NEED TO UTILIZE DIFFERENT

SPECIALISTS YOU ARE SEEING.

PRIMARY CARE PROVIDERS ARE

IMPORTANTLY INTEGRAL TO THIS

ODYSSEY FINDING PHYSICIAN

CHAMPION TO COORDINATE CARE AND

HELP CONNECT YOU THROUGH

DIFFERENT SPECIALISTS AND

INTEGRATE THAT INFORMATION IS

VITAL TO THE DIAGNOSTIC PROCESS.

SO FINDING SOMEONE YOU CAN TRUST

AND BE ABLE TO SHARE YOUR

SYMPTOMS YOUR HISTORY, AND YOUR

STORY, MAKE AN UNDERSTANDING AND

INTERPRET HEALTH GUIDE THROUGH

THIS IS VITAL. FOR THOSE

LOOKING FOR SPECIALISTS AND NOT

QUITE SURE WHERE TO GO NEXT, I

WANT TO BRING UP AGAIN RESEARCH

THAT WE WERE SHARING EARLIER,

RARE DISEASE INFORMATION CENTER

WE HAVE A CONTACT CENTER THAT IS

STAFFED BY INFORMATION

SPECIALISTS WHO CAN PROVIDE

SUPPORT INDIVIDUALIZED SUPPORT

IN FINDING MEDICAL SPECIALIST,

PATIENT ORGANIZATIONS OR OTHER

TYPES OF INFORMATION YOU ARE

LOOKING FOR ABOUT RARE DISEASE.

VISIT THAT WEBSITE AND OR GO TO

OUR EXHIBIT BOOTH IF YOU HAVE

ANY QUESTIONS AT ALL. IN

ADDITION TO THAT, RESOURCES WERE

SHARED EARLIER ABOUT UNDIAGNOSED

DISEASE NETWORK HERE IS A LINK

DOWN HERE

UNDIAGNOSED.HMS.HARVARD.EDU.

THAT SERVICE IS REALLY TO CUSS

FOCUSED ON FOLKS THAT HAVE GONE

THROUGH AND BEEN THROUGH

MULTIPLE DIFFERENT STAGE OF

EVALUATION IN THAT DIAGNOSTIC

PROCESS, FIRST AN FOREMOST

STARTING TO MAKE SURE THAT YOU

FIND THE RIGHT SPECIALIST AND

YOU START THAT DIAGNOSTIC

ODYSSEY WITH THE RIGHT CHAMPIONS

AND MEDICAL CARE TEAM TO SUPPORT

YOU. SO PLEASE REACH OUT IF YOU

HAVE ANY QUESTIONS, IN TERMS OF

INFORMATION AND DEFINITELY WE

WILL HEAR BACK FROM OUR

PANELISTS IN A MOMENT. THANK

YOU.

>> I SINCERERY APPRECIATE ALL

THE PANELISTS TO THEIR

PARTICIPATION AND SHARE THE

STORY SPECIFIC STAGES OF TO

BRING YOUR FAVORITES AND TO SHOW

IT TO ALL OF US. I HAVE A

QUESTION TO ALL OF YOU. WHAT IS

THE ONE TAKE HOME MESSAGE YOU

WANT TO SEND TO OUR AUDIENCE?

>> I WOULD SAY TO NEVER GIVE UP.

TO STAY FIGHTING STAY STRONG

CONTINUE TO LOOK FOR POSITIVE

AND OPTIMISTIC AND HAPPY THINGS

IN LIFE. WE HAVE ALL HAD TO DEAL

WITH THINGS THAT ARE

UNFORTUNATE. BUT THERE'S STILL

WAYS TO TRY TO PURSUE THAT AND

BE AS HAPPY AS WE CAN.

>> I WOULD SAY TO TRUST YOUR

INSTINCTS, IF YOU FEEL THAT

SOMETHING IS WRONG WITH YOUR

CHILD AND DIAGNOSIS ISN'T OR

EVEN LACK OF DIAGNOSIS ISN'T

WHAT YOU FEEL IS THE ANSWER TO

EXPLORE GETTING DIAGNOSED, AND

THEN ALSO ONCE YOU HAVE THAT

DIAGNOSIS, DON'T BE CONFINED TO

IT BY LIMITATION. EVERY CHILD IS

DIFFERENT. MEET THEM WHERE THEY

ARE AND KNOW THAT THEY WILL GET

THERE IN THEIR OWN TIME. AVA HAS

DONE MORE THAN WE WERE TOLD SHE

WOULD DO WITH HER DIAGNOSIS AND

SHE CONTINUES EVERY DAY VERY,

VERY SMALL BUT IT CAN HAPPEN

>> I WANT TO GIVE HOPE TO PEOPLE

THAT SEEKING ANSWERS AND DOING

THESE RESEARCH STUDIES WE ARE

PROOF THAT IT'S WORKING. WE ARE

REAPING THE BENEFITS OF THE

DIAGNOSIS OF OTHER PEOPLE AND

THE TREATMENTS THAT ARE WORKING

ON OTHER PEOPLE. WE ARE

DEFINITELY STILL EXPERIMENTAL,

THEY DON'T KNOW HOW MY DAUGHTER

IS GOING TO REACT TO MEDS LONG

TERM BUT THERE IS HOPE. IT IS

WORKING. RESEARCH IS WORKING.

SEEKING ANSWERS AND GETTING

TREATMENT IS WORKING. WE ARE

PROOF OF THAT, OUR FAMILY IS

PROOF OF THAT. IN SUCH A SHORT

AMOUNT OF TIME ONE GENERAL RANKS

TO NEXT. GENERATION TO THE NEXT.

ANYTHING TO SAY BABY TO SAY TO A

KID WHO MIGHT HAVE RARE DISEASE

LIKE YOU? THE WHAT WOULD YOU

TELL THEM? WHEN THEY ARE SCARED

MANY THE HOSPITAL ABOUT NEEDLESS

OR SOMETHING.

>> I DON'T KNOW.

>> YOU DON'T KNOW? WOULD YOU

TELL THEM IT IS OKAY AND IT GETS

BETTER? YEAH? AND TO BE STRONG

AND BRAVE? YEAH.

>> BIBLE VERSE BE STRONG AN

COURAGEOUS ONE.

>> UH-HUH.

>> YES.

>> I GUESS SOMETHING THAT I WILL

SAY IS TO HAVE FAITH EVEN WHEN

IT GETS REALLY HARD AND EVEN IF

IT SEEMS IMPOSSIBLE TO ACHIEVE,

AND FROM MY EXPERIENCE WE BOTH

KNOW THAT THEY ACTUALLY IT RUBS

OFF ON PEOPLE AND -- YEAH, WHEN

YOU HAVE ENOUGH FAITH YOU CAN DO

ANYTHING.

>> OH, YEAH. EVEN BEING WITH HER

AS A CHILD THOUGH SHE'S 22 RIGHT

NOW, BUT SEEING KIDS MANY THE

HOSPITAL AND HOW RESILIENT THEY

ARE, REALLY IS AMAZING TO SEE.

EVEN GROWN UPS, BECAUSE SEEING

ONE THING THAT I LEARNED THAT

LOOKING AT COMMERCIALS ON TV,

DOES NOT COMPARE TO REAL LIFE

SITUATIONS THAT PEOPLE GO

THROUGH. I KNOW THE

ADVERTISEMENTS ARE NICE BUT WHEN

IT HAPPENS TO YOU IT CHANGES

YOUR LIFE COMPLETELY. BUT YOU

LEARN HOW TO DEAL WITH IT AND

HOW TO COPE WITH IT. AND LIKE

TROY SAID, LOOK AT THE POSITIVE

IN IT ALL. AND IT ALL WILL WORK

OUT. EVEN ON THE BAD DAYS.

>> THANK YOU, VERY MUCH FOR

SHARING YOUR STORY AND I HOPE

THE AUDIENCE, WHEREVER YOU ARE

ON YOUR ODYSSEY, BEGINNING

MIDDLE O OR END, HOPEFULLY GIVE

EVERYONE THE HOPE. THANK YOU FOR

WATCHING OUR SESSION AND IN THE

END I WOULD LIKE TO BRING YOUR

ATTENTION THAT THE USEFUL TOOL

AND RESOURCES ARE PREPARED FOR

YOU. THANK YOU.

>> HELLO, EVERYONE. THANK YOU SO

MUCH FOR STAYING WITH US FOR

RARE DISEASE DAY NIH. WE HAD

NEARLY 2000 PEOPLE JOINING FROM

ALL OVER THE WORLD. I DON'T KNOW

HOW SOMETHING CAN BE SO

EXHAUSTING YET SO EXHILARATING

SO THANK YOU SO MUCH FOR

STAYING. BEFORE I PROCEED I WANT

TO ONCE AGAIN THANK ALICE CHEN,

MIRA SHAW AND MANY OTHERS FOR

ORGANIZING THE INFORMATIVE AND

INSPIRING AGENDA TODAY. PLEASE

GIVE ALICE AND TEAM A ROUND OF

VIRTUAL APPLAUSE. THANK YOU SO

MUCH.

I WANT TO CLOSE OUT BY SHARING

SOME REFLECTIONS OF THE DAY AND

THERE ARE MANY OF THEM. I FOUND

IT VERY DIFFICULT TO NARROW IT

DOWN. AT N CATS EVERY DAY IS

RARE DISEASE DAY BUT I LEARNED

SOMETHING NEW FROM RARE DISEASE

DAY AT NIH. THIS EVENT THAT WE

HAD TODAY. AND I HOPE YOU HAVE

TOO. WE HEARD ABOUT THE

STAGGERING ECONOMIC BURDEN OF

RARE DISEASE. THROUGH NCATS LED

STUDY ON IMPACT OF RARE DISEASE

ON ON THE HEALTHCARE SYSTEM. WE

FOUND THAT DIRECT MEDICAL COSTS

FOR RARE DISEASES IN ONE YEAR IS

ABOUT $400 BILLION IN DIRECT

MEDICAL COSTS. AND THIS STUDY

WAS ON THE HEELS OF ANOTHER

IMPORTANT STUDY LIEU THE EVERY

LIFE FOUNDATION WHERE THEY FOUND

USING VERY DIFFERENT APPROACH

VERY SIMILAR NUMBER. IN ABOUT

$450 BILLION IN DIRECT MEDICAL

COSTS. UPWARDS OF $1 TRILLION

IN TOTAL COSTS PER YEAR FOR

THOSE WITH RARE DISEASES. THESE

DATA ARE BEFORE COVID AND I

WOULD BET COVID ONLY EXACERBATED

THESE COSTS. NOTE THAT THE ONE

TRILLION COST INCORP RATES COSTS

TO CAREGIVERS. AND I'M REMINDED

OF DR. MARGARET BEVIN POINTS OF

STRESSORS O CAREGIVERS AND

IMPACT ON QUALITY OF LIFE. SHE

TALKED ABOUT HER DAUGHTER WITH

POMPEII DISEASE DIAGNOSIS

THROUGH A NEWBORN SCREENING

PROGRAM. SEEING THE IMPACT OF

DIAGNOSIS ON GRANDDAUGHTER AND

FAMILY. SHE GAVE US THE REST

ACRONYM R IS REST, E IS EAT

HEALTHY, S IS SLEEP AND T IS

TAKE CARE OF YOURSELF. AND SHE

GAVE BLANKET PERMISSION TO ALL

CAREGIVERS OUT THERE, TO INVOKE

REST. ALWAYS. WE HEARD FROM

MEHMET WITH ATAXIA, SHE WAS ALSO

IDENTIFIED THROUGH NEWBORN

SCREENING. AND MEHMET WAS

WORKING HARD EVER SINCE THAT

DIAGNOSIS TO NAVIGATE THE

RESEARCH AND CLINICAL SPACE

TOWARDS ASO THERAPY. THAT COULD

HELP HIS DAUGHTER. HE FOUND A

RESEARCHER TO WORK WITH HIM AND

FINDING A RESEARCHER HE FOUND

OUT IS NOT ALWAYS THE SAME THING

AS FINDING A TREATMENT. BUT IT

IS A PRETTY GOOD START. HOW CAN

WE HELP FAMILY LIKE MEHMET'S WHO

MAY NOT HAVE A SIMILAR PATH OR

KNOW WHAT TO DO. NEWBORN

SCREENING AND ADVANCE GENETIC

TESTING IS CRITICAL FOR HELPING

IDENTIFY DIAGNOSE RARE DISEASE

EARLY AND IS ONE OF THE KEYS TO

SHORTENING THE DIAGNOSTIC

ODYSSEY. BUT MOST OF THE TIME

THAT ALSO MEANS THE NEXT STEP IS

TREATMENT ODYSSEY. THAT'S WHEN

THAT BEGINS, GETTING A DIAGNOSIS

IS NEEDED FIRST STEP BUT THEN IT

IS THE SEARCH FOR THOSE

TREATMENTS AND CURES. ANOTHER

THING WE CAN DO IS HIGHLIGHT

AWARENESS AND MAKE RESOURCES

AVAILABLE. ERIC SID TALKED ABOUT

SOME NCATS RELATED RESOURCES

SUCH AS THE GENETIC AND RARE

DISEASE INFORMATION CENTER OR

GARD. AND THERE ARE MANY

ADDITIONAL RESOURCES LIKE THAT

ON THE SLIDE THAT HAVE JUST

SHOWN MOMENTS AGO. OTHER

RESOURCES THROUGH PARTNER

ORGANIZATIONS THAT WERE

HIGHLIGHTED TODAY. WE ALSO

HEARD ABOUT MANY NEW EFFORTS AND

STORIES THAT WERE MENTIONED. DR.

SCOTT DEMAREST FROM N OF ONE

ORGANIZATION IS BUILDING NETWORK

OF COLLABORATORS AND

STAKEHOLDERS TO BRING THE

MOVEMENT OF MILA TO MORE RARE

DISEASE. HE TALKED SHARING DATA

AND LESSONS LEARNED AN THE GOOD

AND BAD. HE TALKED ABOUT MAKING

RESOURCES SCALABLE AND THE WORK

FEASIBLE OF N OF ONE OR N OF

SMALL DISEASES AS WE DISCUSSED

DURING THAT PANEL. IN THIS ARE

THE KINDS OF EFFORTS THAT WILL

EVERYONE SCALE RESEARCH AND

RESEARCH ECOSYSTEM SO THERE'S

MORE EXPERIENCE AN MORE

EXPERTISE FOR ALL OF US. AND WE

ARE ALL NEEDED TO HELP MOVE THAT

NEEDLE. DR. PJ BROOKS TALKED

ABOUT A VARIETY OF APPROACHES OF

LOOKING AT MORE THAN ONE DISEASE

AT A TIME. RARE DISEASES ARE

DIVERSITY OF PEOPLE. WITH

DIVERSITY OF DISEASES AND IT

REQUIRES A DIVERSITY OF

APPROACHES. WE TAKED ABOUT AAV

GENE THERAPY FOR PLATFORM VECTOR

GENE THERAPY AND SPOKE GENE

THERAPY CONSORTIUM, WE TALKED

GENE EDITING AND ANTISENSE

OLIGOKNEW CLEO TIDES AND THERE'S

WORK IN OTHER TYPES OF TREATMENT

MODALITIES THROUGH NCATS SHARED

MOLECULAR ENTITY PROGRAM. THERE

WAS AN ENTIRE SESSION ON

DIVERSITY RARE DISEASE RESEARCH

AND EQUITY OF CARE WITH

MODERATING THAT SESSION AND

TALKING IMPROVING OUR DIVERSITY

IN GENETIC STUDIES. AND ENSURING

THAT DIVERSITY IS REFLECTED IN

DIVERSE WAYS. DR. (INAUDIBLE)

POINTED OUT INCREASING DIVERSITY

OF ANCESTRAL POPULATIONS IN

GENETIC STUDIES SO IMPORTANT. WE

HAVE TO GAIN BETTER

UNDERSTANDING OF GENETIC

UNDERPINNINGS OF DISEASE

MECHANISMS AND DIVERSITY WE HAVE

IN IN THE PEOPLE WITH THOSE

DISEASES. THIS DOVE TAILED

NICELY WITH SESSION 3 DESIGNING

CLINICAL TRIALS THAT INCORPORATE

BUILD FROM PATIENT VOICES. LED A

PANEL DISCUSSION TO TALK ABOUT

SPECIFIC EXAMPLE OF HOW ATR

PHARMA REACHED OUT TO THE

FOUNDATION FOR SARCOIDOSIS

RESEARCH ADVOCACY GROUP TO WORK

TOGETHER. THERE WERE TWO KEY

TAKE A AWAYS FOR ME IN THAT. ONE

WORKING WITH AD INVOLVE SKI

GROUPS EARLY AND OFTEN IS A KEY

POINT. THE SECOND ONE WAS THE

IDEA PATIENTS HAVE LIFE HAIKS TO

HELP COPE WITH THEIR RARE

DISEASE. AND THOSE LIFE HACKS

CAN BE HELPFUL INSIGHTS TO

BIOLOGY. THE BIOMEDICAL

ECOSYSTEM ADVOCACY INDUSTRY

ACADEMIA, AND PATIENT

PARTNERSHIPS, THAT WHOLE

ECOSYSTEM REQUIRES TRUST AND

TRANSPARENCY. TAKING THE FIRST

STEPS TO ACHIEVE THE GOAL OF

FINDING A THERAPY THAT WORKS AND

FOCUSES ON IMPACTING PATIENT

LIVES IS SO IMPORTANT. PATIENTS

ARE NOT DATA POINTS. THEY ARE

PARTNERS. AND THAT REMINDS ME OF

DR. LANGFORD'S ASK ACRONYM. A IS

ASSUME PEEP HE WILL WANT TO KNOW

WHAT -- PEOPLE WANT TO KNOW WHAT

OPTIONS ARE. S MEANS YOU CAN

SEEK COUNSELING OF STAKEHOLDERS.

ASK THEM WHAT THEY WANT AND

NEED. K, KNOW YOUR NUMBERS. WHO

IS ACCEPTING TO BE PART OF YOUR

TRIAL OR STUDY AND WHY. THOSE

ARE IMPORTANT KEY ASPECTS OF

AROUND UNDERSTANDING WHAT

PATIENT NEEDS ARE AND HOW TO

IMPACT THOSE PATIENT NEEDS

BETTER. WE NEED MORE INNOVATION

TO BE MORE PROFICIENT IN

BRINGING IN UNDERSERVED

COMMUNITIES AN COMMUNITIES OF

COLOR, THINKING ACCESS TO

STUDIES AN FILES. LACK OF

INSURANCE, LACK OF FLEXIBILITY

IN WORK, LACK OF TRANSPORTATION,

THESE ARE JUST A FEW THINGS THAT

ARE STILL FRUSTRATING ISSUES.

AND WE ARE STARTING TO DO MORE

DECENTRALIZED TRIALS BUT WE HAVE

A LONG WAY TO GO. WE HAVE A

SHORT TIME TO GET THERE. WE

HEARD STORIES FROM SHILLAN

RODRIGUEZ PENA, MOM OF OF AADC

DEFICIENT CHILD AND TOE

MYOPEARSON TREATING DEFISH SAND

HOW THE IMPORTANCE OF

UNDERSTANDING THE NATURAL

HISTORY PUSHED TOWARDS TREATMENT

APPROACHES. DR. PEARSON TALKED

ABOUT TRAVELING TO THE PATIENTS

IN THEIR HOMES AND WHEN COVID

HIT THIS CHANGED TO TELEMEDICINE

VISITS. HER CARE TO GENE

THERAPY TRIAL FOR AADC

DEFICIENCY SO SHE SAW THEM

BEFORE AND AFTER TREATMENT AND

FOUND WAY TO NOT MAKE IT TO

HERRITY DISTANCE OR BY COVID AND

WAS FOCUSED ON THE TREATMENT AND

MAKING AN IMPACT IN THOSE WHO

HAD AADC DEFICIENCY. FINDING

WAYS TO MEET PEOPLE WHERE DAY

ARE. WE HEARD FROM NORD ABOUT

SURVEY ON TELEHEALTH AND

MEDICINE, THESE APPROACHES ARE

STILL VERY MUCH NEEDED, IT WAS

ALSO SORT OF PRECAUTIONARY TALE

IN TELEHEALTH IS NOT THE PANACEA

FOR ACCESS WE WANT BUT IT CAN

GET THERE. THERE'S STILL

INTERNET ACCESS TO DISPARITIES,

TRUST AND NAVIGATING COMPUTER

BASED TECHNOLOGY AND HEALTHCARE,

AND EVEN RESEARCH PROGRAMS,

SEEING SOMEONE VIRTUALLY CAN BE

AWKWARD AND NOT BEING ABLE TO DO

SOME THINGS BETTER TO BE DONE IN

PERSON. BUT TELEHEALTH THESE ARE

FANTASTIC TOOLS THAT PROVIDE

NEEDED ACCESS. AND IT IS HERE TO

STAY. AND IT CAN ONLY GET

BETTER. WE HEARD FROM JIM OF THE

CURE JM FOUNDATION AND GOT

INSPIRED BY KATHERINE AILED FORD

TEACHING FROM GOING FROM ZERO TO

CURE. KATHERINE TALKED ABOUT HER

OWN PATIENT JOURNEY WITH

SOMEWHERE,M AND HOW SHE BELIEVES

NIH WILL FIND TREATMENTS AND

PARTICIPATE IN RESEARCH. IT IS A

STORY MUCH LIKE MONIQUE AND

VIVIANNE AND TERRENCE AND TERRAN

AND ERIKA AND TROY WHO JUST ALL

TALKED ABOUT THEIR OWN

TREATMENT. THESE WERE THE PANELS

WE COULD FIT IN TODAY, THERE ARE

SO MANY MORE AND I CAN'T THANK

THE SPEAKERS, AND THE PANELISTS

AND OUR PATIENTS ENOUGH FOR

SHARING THEIR STORIES ESPECIALLY

THOSE SHARING DIAGNOSTIC

ODYSSEY, THOSE ARE STORIES OF

BRAVERY, COMPASSION. CREATIVITY

AND INNOVATION. AND GRIT.

THERE ARE RARE DISEASE PATIENTS

WHO ARE DESPERATE FOR PROGRESS

AND I HOPE YOU HEARD SOMETHING

TODAY THAT GIVES YOU HOPE. THE

MORE WE LEARN AND SHARE

TOGETHER, THE MORE WE WILL

REALIZE OUR HOPE OF BRINGING

MORE TREATMENTS TO ALL PEOPLE

MORE QUICKLY. BEFORE WE CLOSE

OUT FOR THE DAY I WILL TURN THE

VIRTUAL STAGE OVER TO DR. CHEN

FOR CLOSING ANNOUNCEMENT AND

BEFORE I BID YOU FAIR WELL,

THANK YOU FOR JOINING US AND I

LOOK FORWARD THE NEXT YEAR.

ALICE OVER TO YOU.

>> HI TONI, THANK YOU FOR THAT

EXCELLENT CLOSING AND SUMMARY OF

THE DAY. WE ARE SO HAPPY YOU ARE

ABLE TO KICK OFF AND CLOSE OUR

EVERY VIRTUAL EVENT. I WANT TO

SAY A QUICK HELLO TO EVERYBODY

AND PROMISED A BRIEF

ANNOUNCEMENT AT THE END OF THE

DAY ABOUT CONTEST WINNERS TODAY

AND I WANT TO APOLOGIZE IN

ADVANCE IF I MISPRONOUNCE YOUR

NAMES. TRYING TO GET CREATIVE

HERE. (INAUDIBLE) I'M NOT GOING

TO THROW ACTUAL CONFETTI. SEE IF

THIS IS A GOOD COMPROMISE. ALL

RIGHT. AND PULL THIS OVER,

SORRY. SO WE HAVE OUR TOP

WINNERS FOR OUR LEADER BOARD

CONTEST. THE NAMES ARE FRANK

RIVERA, (INAUDIBLE) JACKSON,

MONIQUE AND VIVIAN WHO YOU JUST

HEARD FROM SESSION 7. WE HAVE

ANNA SHUESTER AND LAUREL

RICHARDSON. THANK YOU AGAIN FOR

INTERACTING WITH US THROUGHOUT

THE DAY AND HOPING TO MAKE --

HELPING TO MAKE OUR SECOND

ATTEMPT AT VIRTUAL EVENT AS MUCH

FUN AS POSSIBLE. FEW CLOSING

REMARKS. AS A REMINDER AN

ARCHIVE WILL BE AVAILABLE IN A

FEW DAYS ACCESSED THROUGH THE

SAME VIDEOCAST LINK YOU USED

TODAY BUT DON'T WORRY IF YOU

LOSE IT WE WILL SEND OUT TO ALL

REGISTRANTS, IF YOU WANT TO GET

NOTIFIED, MAKE SURE YOU HAVE

REGISTERED FOR TODAY'S EVENT.

THERE WERE MORE QUESTIONS

SUBMITTED AND WE CAN GET -- THAN

WE GET TO, AS REMINDER THE

WEBCAST WILL BE AVAILABLE FOR

THREE MONTHS UNTIL MAY SO WE

HAVE ENCOURAGED WONDERFUL

SPEAKERS TO CONTINUE ANSWERING

YOUR QUESTIONS. IF YOU HAVE

FEEDBACK, DON'T FORGET TO SHARE

YOUR THOUGHTS WITH US. IF YOU

HAVE ENJOYED TODAY'S EVENT WE

WANT TO GIVE SPECIAL

ACKNOWLEDGMENT TO ALICIA STEVENS

WHO PUT IN HARD WORK AND LONG

HOURS TO GET EVERYTHING READY IN

TIME. THANKS AGAIN TO OUR

EXCELLENT NIH EVENTS MANAGEMENT

TEAM AND FINALLY FOR THOSE IN

THE BETHESDA, MARYLAND AREA, WE

ARE LIGHTING UP NLM LISTER HILL

CENTER FOR RARE. YOU CAN SEE THE

RARE DISEASE LIGHTS OFF OF

ROCKVILLE PLACE AND WOOD MONT

AVENUE. SWING BY AND TICK A

PICTURE. -- TAKE A PICTURE.

THANK YOU FOR JOINING US AND WE

WILL SEE YOU NEXT YEAR.