>>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.