>> GOOD MORNING.
THAT WAS A LITTLE LETHARGIC.
CAN WE TRY AGAIN?
GOOD MORNING.
YES.
YOU ALL CAME BACK.
THAT'S WONDERFUL.
DID YOU HAVE A GOOD EVENING?
WAS THE RECEPTION A LOT OF FUN?
DID PEOPLE ENJOY THAT?
OKAY.
AND HOPEFULLY YOU'RE ENJOYING
THE BEAUTIFUL WEATHER WE ORDERED
FOR YOU JUST FOR THE D.C. AREA.
WE'RE PLEASED TO WELCOME YOU TO
DAY TWO.
THIS IS THE INCLUDE PROJECT AND
TRANSFORMATIONAL RESEARCH.
I WANT TO REMIND EVERYBODY IT'S
GOING TO BE A RELATIVELY BRIEFER
SESSION BUT STAY TUNED FOR
SOMETHING REALLY FUN COMING UP.
WE'LL HAVE DR. EAGAN AND
CLINICAL TRIALS READINESS.
THERE'LL BE BREAKOUTS AT LUNCH
WHICH ARE OPTIONAL AND INFORMAL
SO IF YOU'RE PART OF A CLINICAL
TRIAL TEAM OR INTERESTED IN
COHORT DEVELOPMENT WE'LL HAVE
SPECIFIED ROOMS TO GATHER FOR
LUNCH, OTHERWISE YOU CAN PICK UP
BOX LUNCHES AND EAT WHERE YOU'D
LIKE.
IF YOU'D LIKE TO GO OUTSIDE,
THAT'S ALSO AN OPTION.
COME BACK AFTER LUNCH, PLEASE,
AND WE'LL HAVE A SESSION ON DATA
SHARING AND ACCESS AND
INTERNATIONAL DATA ISSUES WHICH
HAVE COME UP IN SOME DISCUSSIONS
IN THE LAST DAY AND A HALF OR
SO.
WE'LL HAVE COMMUNITY OUTREACH
EFFORTS AND WRAP UP WITH SOME
FUTURE DIRECTIONS FOR
INCLUDE-RELATED RESEARCH AND
CLOSING REMARKS FROM DR. SCHWETZ
FROM THE OFFICE OF THE DIRECTOR
AT NIH.
I THINK WE HAVE AN EXCITING AND
PACKED BUT PLEASANT AGENDA AND
WE'RE LOOKING FORWARD TO ALL OF
WHAT YOU'LL SHARE WITH US TODAY.
WE ENJOYED YESTERDAY'S SESSIONS
AND APPRECIATE ALL THE SPEAKERS
AND PARTICIPANTS FOR ALL OF YOUR
COMMITMENT AND ENGAGEMENT.
I WANT TO THANK AGAIN OUR
INCLUDE AMBASSADORS WHO WELCOMED
US AGAIN TODAY.
THANK YOU TO PIA, GABBY AND
THERESA OR EXCELLENT WELCOMING.
HERE THEY ARE.
I WANT TO ACKNOWLEDGE OUR
SELF-ADVOCATES.
AND MR. DAVID EAGAN WHO IS SPEAK
IN A MOMENT.
LET ME TELL YOU ABOUT DAVID.
HE'S INE ADVOCATE AND VOLUNTEER
LEAD WHOER PROMOTES THE CAUSES
OF PEOPLE WITH INTELLECTUAL
DISABILITIES INCLUDING DOWN
SYNDROME AND HAS HAD 20 YEARS OF
COMPETITIVE EMPLOYMENT AND
CAREER IN ADVOCACY AT THE LOCAL,
STATE, AND NATIONAL AND
INTERNATIONAL LEVELS AND THE
FIRST PERSON OF DISABILITY TO BE
A JOSEPH P. KENNEDY JR. PUBLIC
POLICY FELLOW AND WORKED ON
CAPITOL HILL.
HE'S ALSO A SPECIAL OLYMPICS
ATHLETE AND SERGEANT SHRIVER
GLOBAL MESSENGER AND HAS
ADDRESSED OUR COUNCIL AND HAS
DEALT WITH ISSUES WITH DOWN
SYNDROME SINCE HE WAS A BABY.
WE'RE PLEASED TO HAVE HIM AND
THE PUBLISHER OF A BOOK.
JOIN ME IN WELCOMING MR. DAVID
EAGAN TO GIVE US A CALL TO
ACTION.
-- MR. DAVID EGAN FOR THE CALL
TO ACTION.
>> HOW'S EVERYONE DOING TODAY?
HOW'S YOUR MORNING?
THANK YOU, DR. PARISI.
I'M HERE TO THANK ALL WHO CARE
ABOUT DOWN SYNDROME.
THANK YOU, NIH FOR THE INCREASED
FUNDING TO BETTER UNDERSTAND THE
CONDITION AND IMPROVE OUR LIVES.
WHEN I WAS YOUNG, I NEEDED TO GO
TO THE HOSPITAL TO HAVE MY
TONSILS TAKEN OUT.
I ASKED MY FATHER IF THEY WERE
TAKING AWAY THE DOWN SYNDROME
TOO.
SHE SAID IT WILL BE WITH YOU ALL
YOUR LIFE BUT IT DOESN'T STOP
YOU FROM HAVING DREAMS AND BEING
SUCCESSFUL.
SHE WAS RIGHT.
IT DOESN'T STOP A HEALTHY
JOURNEY AND REWARDING LIFE.
AS YOU WELL KNOW, IN THE '70s
WHEN I WAS BORN, PERCEPTION AND
REALITIES WERE NOT SO POSITIVE.
WILL HAVES WITH DOWN SYNDROME
WERE NOT SEEN AS CAPABLE OF
LEARNING AND HAVING A LIFE LIKE
EVERYONE ELSE.
THAT WAS A MYTH.
WE WERE NOT EXPECTED TO LIVE
BEYOND THE AGE OF 25.
THAT WAS A SAD TRUTH.
THANKS TO RESEARCH AND ADVANCES
IN THE MEDICAL FIELD, WE'RE
LIVING LONGER.
HOWEVER, IT IS NOT ENOUGH TO
LIVE LONG.
WE NEED TO PROSPER.
AND A QUALITY OF LIFE IS
IMPORTANT.
I AM 36 YEARS OLD AND LOOKING
BACK AT 1977 WHEN I WAS BORN.
IT WAS ALMOST IMPOSSIBLE TO
BELIEVE SOMEONE LIKE ME WOULD BE
FULLY INCLUDED AND SPECIAL
OLYMPICS ATHLETES, COMPETITIVELY
EMPLOYED, A JOSEPH P. KENNEDY
PUBLIC POLICY FELLOW AND AUTHOR
AND ADVOCATE.
I'M ONE OF MANY PEOPLE OF MY
GENERATION WHO ARE PROOF THAT
EXPECTATIONS FOR US HAVE CHANGED
DEEPLY.
WHAT SEEMED IMPOSSIBLE ON THE
DAY I WAS BORN IS NOW A
POSSIBILITY.
WHILE WE HAVE MADE SOME
PROGRESS, THERE'S MORE WORK TO
BE DONE.
CLINICAL TRIALS HAVE HELPED THE
DAILY HEALTH CARE OF INDIVIDUALS
WITH DOWN SYNDROME.
WE NEED DOCTORS IN EVERY STATE
IN THE UNITED STATES AND ALL
OVER THE WORLD THAT SPECIALIZE
IN CARING WITH INDIVIDUALS LIKE
ME.
I STRONGLY BELIEVE DOWN SYNDROME
DOES NOT DEFINE ME AS A PERSON.
WHILE I SHARE IN THE CONDITION
WITH AN EXTRA CHROMOSOME, DOWN
SYNDROME IS NOT WHO I AM, IT'S
PART OF WHO I AM.
I HAVE ASPIRATIONS, DREAMS,
FEELINGS, CHALLENGES AND
SUCCESSES LIKE EVERYONE ELSE.
I ALSO SHARE IN THE SAME
HUMANITY LIKE ANYONE ELSE WITH
OR WITHOUT A DISABILITY.
AS I SAY IN MY BOOK, WE'RE MORE
ALIKE THAN DIFFERENT.
WE CONTRIBUTE IN OUR COMMUNITY
AND THANKS TO OUR EXTRA
CHROMOSOME WE MAY HAVE THE
INCLUDE FOR RESEARCHERS AND
DISCOVER CURES THAT WOULD HELP
ALL OF US THOSE WITH, WITHOUT
MANY DISEASES LIKE SLEEP APNEA,
ALZHEIMER'S AND MUCH MORE.
I WANT YOU TO KNOW I AM NO
STRANGER TO RESEARCH.
EARLY IN MY CHILDHOOD WE WENT
TO THE UNIVERSITY OF WISCONSIN.
PREVIOUS EDITIONS OF SOME BOOKS
DIDN'T HAVE PICTURES OF DOWN
SYNDROME AND STUDENTS WOULD
LISTEN TO MY HEART AND EVALUATED
MY FINE GROSS MOTOR SKILLS EVERY
MONTH.
LATER WE VOLUNTEERED FOR
RESEARCH AT THE REISMAN FUNDED
BY THE NATIONAL INSTITUTES OF
HEALTH.
AND FOR THE PAST YEARS MY
BROTHER, MARK, AND I VOLUNTEERED
FOR THE NIH INCLUDE ABCDS STUDY
IN PITTSBURGH FOR ALZHEIMER'S.
I TOMORROW SERVED ON A
CONSORTIUM AND DS CONNECTED AND
PROMOTE RESEARCH, EDUCATION,
ADVOCACY FOR HEALTH.
YOU PARTICIPATE THROUGH MY
CAMPAIGN.
WE CAN BE INVOLVED IN THE BASIC
RESEARCH AND CLINICAL TRIALS SO
SCIENCE CAN MAKE ADVANCES AND
TRANSLATE TO OUR DAILY HEALTHY
LIVING.
I SHARE THOSE THOUGHTS AT THE
UNITED NATIONS IN NEW YORK CITY.
THIS PAST MARCH 21 FOR HEALTH
EQUALITY FOR ALL.
WE NEED HEALTH CARE SYSTEM TO
TAKE US SERIOUSLY.
WE NEED CLINICS THAT SPECIALIZE
IN DOWN SYNDROME IN EVERY STATE.
WE URGENTLY REQUEST THAT
GOVERNMENT AND INSURANCE
COMPANIES ESTABLISH SPECIALTY
CLINICS WITHOUT RECIPROCITY OF
CARE ACROSS STATES.
WE NEED TO CHANGE THE WORLD
TOGETHER WE CAN MAKE IT HAPPEN
BY ADVOCATING FOR ALL OF US.
WE CAN BUILD A SOCIETY THAT DOES
NOT INCLUDE BUT RATHER INCLUDE.
THIS IS A CALL TO ACTION.
IN CLOSING, I WILL LEAVE YOU
WITH ONE THOUGHT, ARE YOU READY?
USUALLY BEING UP HERE THIS HIGH
I CAN'T HEAR EVERYBODY.
BEING THIL IS A GOAL FOR EVERY
PERSON ON THIS EARTH INCLUDING
INDIVIDUALS WITH DOWN SYNDROME.
NOW, LET'S IMAGINE THE
POSSIBILITIES AND A WORLD WHERE
PEOPLE WITH DISABILITIES ARE
INCLUDED IN RESEARCH CLINICAL
TRIALS AND ACCESS AND SAVE THE
BEST HEALTH CARE, SERVICE LIKE
EVERYONE ELSE.
THANK YOU FOR BEING HERE AND A
WISH YOU A GREAT DAY AND
INTERESTING EXCHANGES THAT WILL
LEAD TO IMPROVING THE LIVES OF
US ALL.
THANK YOU, NIH.
THANK YOU, DR. PARISI AND ALL OF
YOU HERE AND ALL THE TEAMS AND
RESEARCHERS FOCUSSING ON DOWN
SYNDROME.
I'M HOPEFUL WE'LL MAKE PROGRESS
ENSURING GOOD HEALTH AND CARE OF
ALL REGARDLESS OF BIRTH
CONDITION CAN, DISABILITY, RACE,
SOCIO ECONOMIC STATUS.
THANK YOU.
THANK YOU ALL.
>> THANK YOU SO MUCH, DAVID.
WE APPRECIATE YOUR WORDS AND
CALL TO ACTION.
AND NOW, I HAVE A CALL TO ACTION
FOR EVERYONE HERE.
SO, WE HAVE A WONDERFUL
PHOTOGRAPHER WORKING WITH US
TODAY AND SHE'S AVAILABLE TO
TAKE A GROUP PHOTO BUT THERE'S
SO MUCH OF US WE CAN'T TAKE A
PHOTO WITH EVERYBODY IN THE
BUILDING SO WE'RE GOING TO TAKE
A LITTLE FIELD TRIP, THREE TO
FIVE MINUTES TO THE NATIONAL
LIBRARY OF MEDICINE BUILDING,
THE WORLD'S LARGEST MEDICAL
LIBRARY IN THE WORLD.
THAT'S THE HIGHLIGHT OF YOUR
TRIP HERE AT NIH AND WE'LL TAKE
A PHOTOGRAPH OVER THERE ON THE
STEPS AT THE NLM.
LOOK FOR FOLKS LIKE -- HERE WE
GO.
LOOK FOR THOSE OF US WITH THE
NIH TEAM MEMBERS AND WE'LL FRY
TO MAKE SURE YOU GET TO THE
RIGHT PLACE AND TAKE A QUICK
PHOTO AND COME BACK FOR THE REST
OF OUR SESSIONS.
SO WE'D REALLY APPRECIATE IT IF
EVERYBODY WHO WANTS TO
PARTICIPATE.
WE HAVE A GREAT GROUP HERE TODAY
AND LOOK FORWARD TO SEEING YOU
YOU WILL AND YOUR SMILING FACES. THANK YOU.
>> I'M LOVING THE BOX.
YOU CAN SEE ME OVER THE PODIUM.
WE'RE GOING TO SKIP THE BREAK
AND DO THE SESSION AND THEN
SESSION 8 AND THEN HAVE LUNCH.
I THINK WE SHOULD HAVE PLENTY OF
TIME TO GET TO THE IMPORTANT
THINGS.
WELCOME BACK FROM THE WONDERFUL
PHOTOS WE TOOK.
THAT'S GOING TO BE A GREAT
REMEMBRANCE FROM THE MEETING.
I'D LIKE TO INTRODUCE -- FIRST
MYSELF, LAURIE RYAN FROM THE
NATIONAL INSTITUTE ON AGING PART
OF THE NIH INCLUDE TEAM AND ONE
OF THE LEAD FOR COMPONENTS THREE
THE CLINICAL TRIALS COMPONENT.
OUR FIRST SPEAKER WILL BE
DANIEL COMBS TALKING ABOUT
OBSTRUCTIVE SLEEP AP KNEEIAN
CHILDREN WITH DOWN SYNDROME.
-- APNEA.
>> THE BOX IS LESS HELPFUL FOR
ME.
I'D LIKE TO THANK NIH FOR HAVING
ME.
I'M GOING TO TALK ABOUT
MEDICATIONS FOR SLEEP APNEA AND
WE HAVE AN R61, R33 I'LL FOCUS
ON THE R61 BECAUSE WE FINISHED
THAT PART.
OBSTRUCTIVE SLEEP APNEA IN DOWN
SYNDROME I THINK EVERYONE IS
FAMILIAR WITH AND COMMON, 50% TO
80% PROMINENCE PUSHING 90% TO
100%.
WE KNOW IT'S STRONGLY ASSOCIATED
WITH IMPAIRMENT AND QUALITY OF
LIFE.
CPAP WORKS FANTASTIC IF YOU CAN
WEAR IT BUT MOST CAN'T AND
TONSILLECTOMY GENERALLY MAKES IT
BETTER BUT NOT MAKE IT GO AWAY
FOR MOST CHILDREN.
LOW MUSCLE TONE IS AN IMPORTANT
RISK FACTOR AND A NERVE
STIMULATOR WHICH WAS APPROVED BY
THE FDA LAST YEAR NOW AND THAT
TARGETS MUSCLE HYPOTONIA.
AND THERE'S AN EXISTING FDA
APPROVED MED APPROVED DOWN TO
AGE 6 FOR ADHD SPECIFICALLY.
IT TARGETS NOREPINEPHRINE
ASSOCIATED WITH MUSCLE TONE AND
SLEEP AND OXYBUTYNIN TARGETS AND
SHOWN TO IMPROVE MUSCLE TONE AND
SINCE THEN THERE'S BEEN PROBABLY
FIVE OR SIX OUR STUDY HAD AN
EXCLUSION IF YOU'RE USING CPAP
YOU SHOULD NOT STOP AND THERE'S
A CONSERVATIVE LOOK AND
UNTREATED HYPER THYROIDISM
BECAUSE IT CAN INCREASE SLEEP
APNEA AND CURRENT UNTREATED
DEPRESSION.
IF YOU HAVE BIG TONSILS YOU
SHOULD GET THOSE OUT FIRST.
AND IF YOU HAVE CENTRAL SLEEP
APNEA OR RELATED SLEEP APNEA
THEN YOU'RE EXCLUDED.
WE DID A CROSSOVER DESIGN AND
LOOKED AT HIGH DOSE WHY WAS THE
DOSE USED IN THE ADULT STUDIES
80 MILLIGRAMS ATOMOXETINE AND WE
LOOK AT OUTCOMES.
THE IN LAB SLEEP STUDY WITH OUR
OUTCOME MEASURE AND WEREN'T
POWERED TO SEE ANYTHING IN THAT
AND QUALITY OF LIFE ASSESSMENT
THE OSA18 OBSTRUCTIVE SLEEP
APNEA SPECIFIC IN KIDS AND ONE
MORE GENERAL THESE ARE BOTH USED
COMMONLY IN KIDS WITH DOWN
SYNDROME.
ENROLLMENT WE APPROACHED ABOUT
50, HALF AGREED TO BE IN THE
STUDY.
OF THOSE FOUR DIDN'T HAVE SEVERE
ENOUGH SLEEP APNEA OR AT ALL SO
WERE EXCLUDED.
ONE BETWEEN CONSENTING USED CPAP
AND ONE COULDN'T TOLERATE THE
SLEEP STUDY SO WE HAD 15.
THREE WITHDREW, ONE HAD
MEDICATION AND ONE CITED STUDY
DEMANDS TOO HIGH AND THERE WAS
AN EVENT DUE TO RESPIRATORY
FAILURE AND THIS WAS
UNFORTUNATELY DURING COVID AND
NOT RELATED TO THE STUDY.
ONE PERSON DIDN'T HAVE ENOUGH
DATA ON THE LAST SLEEP STUDY SO
I'LL TALK ABOUT THE COMPLETE
DATA.
SO LOOKING AT THE DEMOGRAPHICS,
SO AGE RIGHT IN THE MIDDLE OF
OUR SAMPLE SIZE OF OUR TARGETS.
MORE BOYS THAN GIRLS WHICH I
THINK IS RANDOM.
OUR POPULATION IS VERY
REPRESENTATIVE OF TUCSON SO HALF
LATINO ABOUT 20% AFRICAN
AMERICAN AND HALF CAUCASIAN AND
THIS IS 20 TO 70 AND SO 40 IS
VERY MUCH IN THE MIDDLE.
IT'S FAIRLY REPRESENTATIVE.
BMI A LITTLE BIT ON THE HIGH
SIDE AND THREE OR FOUR WITH
OBESITY.
MOST HAD HEART DISEASE WHICH
MAKES SENSE.
ONE HAD A HISTORY OF DEPRESSION
AND TWO HAD AUTISM.
AND WE HAD ONE PARTICIPANT
WITHDREW DUE TO SIDE EFFECTS DUE
TO IRRITABILITY.
THAT'S WHAT WAS MORE COMMON ON
THE HIGHER DOSE THAN LOW DOSE
WHICH MAKES SENSE.
WE HAD ONE CHILD ON HIGH DOSE IT
SEEMED LIKE THAT WAS DOSE
DEPENDENT AND THE OF THE SIDE
EFFECTS WERE LIMITED.
LOOKING AT OUTCOMES AND
PARTICIPANT LEVEL CHANGES AND
A.I.
CHILDREN GENERALLY GET BETTER
AND HIGH DOSE AND LOW DOSE SEEM
ROUGHLY THE SAME.
AND THEN LOOKING -- THIS IS IN
MORE DETAIL.
OBSTRUCTIVE H.I. THE PRIMARY
OUTCOME MEASURE FROM 7.4 AVERAGE
TO 3.6 AND 3.9.
THIS WAS SIGNIFICANT.
THIS WAS TRUE IN REM AND
NON-REM.
ONE OF THE ONLY OTHER THINGS
I'LL POINT YOUR ATTENTION TO SO
SLEEP APNEA IS GENERALLY WORSE
ON YOUR BACK AND SAW IT GET
BETTER AND YOU CAN USE
TRADITIONAL THERAPY WHERE YOU
TRAIN THEM NOT TO SLEEP ON THEIR
BACKS.
THAT'S AN INTERESTING POTENTIAL
FUTURE STUDY.
THE AT OWE -- ATOMOXETINE CAN
REDUCE THESE CHANGES BUT WITH A
SMALL SAMPLE WE WERE EXPECTING
BIG CHANGE.
QUALITY OF LIFE OUTCOMES.
LOOKING AT THE OSA18 THIS GOT
BETTER BUT DIDN'T REACH
SIGNIFICANT AND AGAIN IT DIDN'T
REACH SIGNIFICANCE AND ADHD GOT
A BIT BETTER ESPECIALLY ON THE
HIGHER DOSE.
THAT WAS INTERESTING.
WHETHER THAT'S DUE TO SLEEP
APNEA OR TREATING ADHD DIRECTLY
I CAN'T TELL YOU FOR SURE.
I'M PRESENTING THIS AT THE SLEEP
MEETING IN JUNE, SO WE PULLED
OUT RESPONDERS AND PEOPLE WITH
OBSTRUCTIVE H.I. THAT GOT BELOW
FIVE AND 43% OF OUR SAMPLE WERE
RESPONDERS.
IN THIS GROUP IMPROVED QUITE A
BIT.
IT WAS 14 POINTS HIGHER COMPARED
TO THE NON-RESPONDERS.
THE MINIMUM DIFFERENCE IS ABOUT
4.
THIS IS A SIGNIFICANT JUMP.
THAT'S PROMISING.
SUMMARIZING LOW DOSE AND HIGH
DOSE WORKED ABOUT THE SAME.
WE SAW SIMILAR EFFECTS IN THE
LOW DOSE AND AT -- ATOMOXETINE
IMPROVED OVER TIME AND SAW A
CHANGE IN THE TREATMENT
RESPONDERS.
WHERE WE ARE NOW SO THIS IS OUR
61R33.
IT'S A LOW DOSE FOR SIX MONTHS
AND THIS IS A MORE ROBUST
COGNITIVE ASSESSMENT THE STUDY'S
ONGOING AND PRETTY
STRAIGHTFORWARD WE'VE HAD THREE
PARENTS SAYING THEY HAVE DONE
BETTER IN SCHOOL LIKE LEARNING
HOW TO READ WHICH IS EXCITING TO
WE WERE HOPING THE FATIGUE AND
MOOD SIDE EFFECTS GET BETTER
WITH ONGOING THERAPY.
THANK YOU TO OUR RESEARCH
PARTICIPANTS AND OUR DATA SAFETY
MONITORING BOARD AND MY RESEARCH
TEAM AND THEN I'LL LEAVE THIS
WITH SOME PARTICIPANTS AND THIS
IS EXCITING FOR ME AND I'LL STOP
THERE.
THANK YOU.
OUR NEXT SPEAKER TALKING ABOUT
CLINICAL TRIAL TO TREAT ADHD IN
DOWN SYNDROME.
>> I AM SO NOT TECH SAVVY BUT
I'M HUMBLED TO BE HERE AND IT'S
GREAT TO BE HERE AT THE NIH AS
FUTURE AND CURRENT
INVESTIGATORS.
I'LL DO MY BEST TO GET THROUGH
THIS AND I'LL WANT TO POINT AT
THINGS SO IF SOMEBODY CAN SHOW
ME HOW TO DO THIS.
DISCLOSURES, NIH FUNDING, AND
THANK YOU.
SO THE TRIAL I'M PRESENTING ON
IS LOOKING AT A STIMULANT
MEDICATION IN CHILDREN WITH DOWN
SYNDROME AND ADHD.
THE GENERAL POPULATION IS 7% TO
8% AND PEOPLE WITH DISABILITY IS
HIGHER AND LOOKING AT REPORTS IS
DOUBLE OR TRIPLE AND LOOKING AT
CLINICAL ASSESSMENTS IT'S A
THREE TO FIVE TIMES HIGHER FOLD
AND NOT DIAGNOSING AND WE HAVE
STIMULANT WORK SO WHY ARE WE
DOING A TRIAL IN THIS MEDICATION
WE KNOW IT WORKS.
IN THE GENERAL POPULATION KIDS
WITH ADHD ARE TREATED WITH
STIMULANT WE HAVE LARGE EFFECT
SIZE AND KNOW IT WORKS AND MOST
RESPOND TO MEDICATION.
WE HAVE OVER 12 CLINICAL TRIALS
WITH CHILDREN WITH INTELLECTUAL
DISABILITY AND ADHD TO AND WE
HAVE BENEFICIAL RESPONDERS AND
HAVE GUIDELINES THAT SAY IF YOU
HAVE AN INTELLECTUAL DISABILITY
AND ADHD WE RECOMMEND USING
STIMULANTS AND BEHAVIORAL
INTERVENTIONS BUT THE MAJORITY
OF THE TRIALS HAVE INCLUDED AND
WHY WE HAVE INCLUDE FUNDING
BECAUSE OUR KIDS WITH DOWN
SYNDROME WERE COMMONLY EXCLUDED
AND THERE MAY HAVE BEEN TWO AND
IN THE TRIAL AND DIDN'T STATE
SPECIFICS.
WE KNOW IT WORKS SO WHY ARE WE
DOING THE TRIAL?
WE'RE DOING IT BECAUSE IN THE
GENERAL POPULATION WHEN WE
PRESCRIBE IN THE GENERAL
POPULATION THEY'RE NOT GETTING
THE MEDICATION.
IF WE LOOK AT THIS IS ME TRYING
TO VISUALIZE THE RATE AT GENERAL
POPULATION AND 6% ARE GETTING
STIMULANTS THAT'S A GOOD TARGET
IF NOT THEY'RE PROBABLY GET
ANOTHER INTERVENTION AND LOOKING
AT INTELLECTUAL DISABILITY WHERE
THE RATES OF ADHD IS ABOUT 16%
AGAIN 14% ARE GETTING MEDICATION
AND WE KNOW THE MEDICATION
WORKS.
IF YOU HAVE DOWN SYNDROME AND
ADHD WHERE I SAID THE RATE WAS
ABOUT 20% TO 44% OF KIDS HAVING
THE CO-OCCURRING CONDITIONS
WE'RE DOING TERRIBLE.
4% ARE GETTING STIMULANT OR
ANOTHER STUDY SHOWS 6% TO 9%.
WE'RE DRAMATICALLY UNDER
TREATING OUR KIDS WITH DOWN
SYNDROME AND ADHD.
WHY?
THERE'S CONCERNS CAN WHERE
PEDIATRICIAN RELUCTANT TO
PRESCRIBE.
WE KNOW OUR KIDS WITH CAN DOWN
SYNDROME KIDS HAVE CONCERNS FOR
CARDIAC DEATH AND WE WANT TO
HAVE MORE SAFETY IN PRESCRIBING
STIMULANT MEDICATIONS WITH KIDS
WITH HEART DEFECT WHO'S MAY HAVE
DOWN SYNDROME.
THE AMERICAN HEART ASSOCIATION
SUGGESTS IT'S REASONABLE TO
CONSIDER STIMULANTS AND MAYBE DO
AN EKG BUT THE STIMULANTS CAN BE
STILL SAFELY PRESCRIBE.
WE KNOW WHERE HE CAN DO THIS
SAFELY IN KIDS WITH DOWN
SYNDROME BUT THERE'S AN EXTRA
CONCERN WITH CONGENITAL HEART
DEFECTS.
WE WANTED TO BE ABLE TO SHOW HOW
TO SAFELY MONITOR IT AND WHAT
KIND OF SAFETY MONITORING WE
SHOULD BE DOING IN KIDS WITH
DOWN SYNDROME AND ADHD.
AND WE'VE HAD LEARNINGS FROM THE
MECHANISM.
THE FIRST AIM WAS TO FIGURE OUT
WHAT MEASURES DIFFERENTIATE KIDS
WITH DOWN SYNDROME WITH AND
WITHOUT ADHD AND THEN ALSO TO
FIGURE OUT WHICH ONES MAY BE
MORE POWERED FOR A LARGE
CLINICAL TRIAL AND THE MEASURES
MAY BE DIFFERENT FROM THE ONES
TRACKING CHANGE WITH.
SO WE PHENOTYPED 134 KIDS WITH
DOWN SYNDROME BETWEEN AGES 6 AND
17 AND GAVE A CLINICAL OFFER
VIEW AND RESTRICTIVE ON WHO
WE'RE CLASSIFYING ON HAVING
ADHD.
THERE'S THE DESCRIPTORS AND
WE'RE IDENTIFYING A THIRD OF THE
KIDS WERE MEETING CRITERIA FOR
ADHD.
WHEN WE WERE LOOKING AT THE
MEASURES THAT WOULD
DIFFERENTIATE KIDS WITH AND
WITHOUT DOWN SYNDROME AND ADHD,
WE WERE FINDING THAT THERE WAS
THE SCREENING WAS USED TO
DIFFERENTIATE AND IT'S
NO-BRAINER THEY WERE HIGHER ON
THESE ONES BUT INTERESTING TO
FIND THE TREND THAT TEACHERS
RECORDING ALL KIDS AS HIGH IN
ATTENTION.
WHEN WE LOOK AT DIAGNOSTICALLY,
YOU HAVE TO KNOW HOW TO
INTERPRET THE FORMS BUT THEN WE
CAN STILL USE THIS ONE FOR
TRACKING CHANGE.
WARE FOCUSSING PRIMARY OUTCOMES
ON THE HD RATING SCALES FOR
ATTENTIVE AND HYPERACTIVE
SYMPTOMS.
IN TERMS OF SECONDARY OUTCOME
MEASURES WE'RE LOOKING AT THE
CHILD BEHAVIOR CHECKLIST.
WHAT WAS INTERESTING IS THERE
WAS A MEASURE THAT
DIFFERENTIATED THE KIDS BUT ALL
THE KIDS WERE BELOW CLINICAL
THRESHOLD THE RED LINE.
IF WE LOOK AT MEASURES WE HAVE
TO THINK WHAT THE CLINICAL
THRESHOLD IS IN THE GENERAL
POPULATION AND IN DOWN SYNDROME.
WE WERE ABLE TO SELECT TWO
MEASURES HERE THE EXTERNALIZING
SYMPTOMS AS A SECONDARY OUTCOME
MEASURE.
THING A MEASURE OF EXECUTIVE
FUNCTIONING ALL THE KIDS WERE
HIGH ON THE RIGHT SIDE AS A
CLINICAL THRESHOLD AND THE
TEACHERS WERE SCORING HIGH ON
THE MEASURES AND WE WERE ABLE
TOFIDE TWO MEASURES USED AS TWO
PRIMARY OUTCOME MEASURES AND
SECONDARY OUTCOME MEASURES WHICH
I'LL GO OVER MORE IN THE OTHER
SLIDES.
GETTING TO OUR DESIGN WE WERE
PHENOTYPING ALL THE KIDS AT THE
BASELINE VISIT AND HAD EXCLUSION
CRITERIA FOR THOSE WITH SEVERE
CARDIAC DIFFICULTIES AND WANTED
TO INCLUDE FOR SAFETY AND COULD
HAVE OTHERS WE COULD MONITOR.
KIDS GO THROUGH PHASE 1 AND A
TRITRATION.
MEANING WE DON'T KNOW WHAT WEEK
WILL BE THE BLINDED WEEK OF
PLACEBO BUT WE'LL TRITATE THEM
BASED ON THEIR WEIGHT AND THEN
IDENTIFY THE END OF THAT WHAT
THEIR OPTIMAL DOSE IS BASED ON
THE PARENT, TEACHER AND
CLINICIAN AND THEN GET
RANDOMIZED.
EVERYONE HAS THE CROSSOVER AND
THEY GET RANDOMIZED TO THE
OPTIMAL DOSE WEEK.
WE JUST DON'T KNOW WHEN BUT IT
COULD BE THE OPTIMAL DOSE AND
PLACEBO AND NEXT WEEK GET
PLACEBO OR SOME RANDOM OF A TO
GET PLACEBO AND THE OPTIMIZED
DOSE.
THAT THE POINT WE MOVE TO OPEN
LABEL.
WE HAVE SIX MONTHS OF OPEN LABEL
WHERE WE'RE ABLE TO MAKE DOSE
ADJUSTS AND THERE'S LOTS OF
TRACKING OF SYMPTOMS AND ADVERSE
EVENTS.
WE DID THIS INTENTIONALLY.
AND ONE THOUGHT I HAD YESTERDAY
IN THE SCIENCE SIDE OF THINGS WE
HAD TO CHOOSE THE LIQUID FORM.
IT'S HARD TO GET PRESCRIBED IN
THE END BUT IN ORDER FOR EVER TO
BE ABLE TO SWALLOW WE WERE
TALKING ABOUT SWALLOWING
MEDICATION, SO IF YOU HAVE A
PILL FORM YOU CAN'T VIT
ACCESSIBLE TO EVERYBODY BECAUSE
NOT EVERYONE CAN TAKE THE PILL
SO YOU'RE RESTRICTING THE
SAMPLE.
WE WERE TRIPLE BLINDED SO THE
PARENT, TEACHER, STUDY STAFF
DIDN'T KNOW WHAT THEY WERE
RECEIVING, THE PHARMACY DID AND
IN OUR TRIAL WE RAN 16 KIDS
THROUGH THE TRIAL AGAIN TO HELP
IDENTIFY WHAT OUR PRIMARY AND
SECONDARY OUTCOME MEASURES WERE
AND OUR EFFECT SIZES.
WE WERE NICELY POWERED WITH
LARGE AND MEDIUM EFFECT SIZES.
SO NOW IN OUR R33 PHASE WE STILL
WANT TO ROLL 100 KIDS, MOSTLY TO
BE ABLE TO DOCUMENT THE ADVERSE
OR RATES OF ADVERSE EVENTS WHAT
TYPE THEY ARE, HOW THEY MAY BE
PRESENTING DIFFERENTLY IN OUR
KIDS BECAUSE THEY MAY SEE
IRRITABILITY AND THAT NABE
STOMACH ACHE PRESENTING AS
IRRITABILITY AND HELPS TO KNOW
WHAT THE PHYSICIAN TO LOOK FOR
AND LOOKING AT SHORT AND
LONG-TERM EFFICACY AND LOOKING
AT 12 TO 50 KIDS TO SHOW IT
WORKS BECAUSE WE KNOW IT WORKS
AN TO LOOK AT MODERATORS.
BECAUSE WE CURRENTLY HAVE 22
KIDS RAN DEMOCRATIZED WHERE
WE'RE HAVING A SUPPLEMENT TO
ENROLL BOSTON CHILDREN'S
HOSPITAL AND PITTSBURGH TO HELP
WITH OUR RECRUITMENT AND WE WANT
TO HAVE LEARNINGS AND LOOKING AT
THE LANDMARK ADHD TRIALS AND
THESE ARE THE RATES OF
WITHDRAWALS AND PLACEBO
RESPONDERS THEY WERE HAVING AND
THEN ALSO THE OPTIMAL DOSE THE
KIDS ENDED UP BEING ON.
NICELY EVEN.
OPTIMAL WAS I LOW DOSE AND THAT
WAS THEIR BEST DOSE TO RESPOND
TO.
AND LOOKING AT THE RESEARCH AND
PEDIATRIC PSYCHO PHARMACOLOGY
LOOKING AT DOWN STUDIES IN
AUTISM.
LOOKING AT OKAY, ANOTHER DD
POPULATION WHAT'S THEIR RATE OF
WITHDRAWALS AND PLACEBO
RESPONDERS.
WE'RE HAVING A REALLY LOW RATE
OF PLACEBO RESPONDERS AND HAVING
MORE LIKE I DON'T LIKE THE SIDE
EFFECTS AND TRITATION AND I'M
OUT AND WE HAVE HIGHER RATES OF
WITHDRAWALS AND ALSO HAVING NO
KIDS DUE TO THE HIGH DOSE.
THEY'RE DOING TO THE LOWER
DOSES.
YOU START AT A LOW DOSE AND GO
SLOW WITH YOUR TRITATION
MEDICATION AND SOMETHING PEOPLE
KNOW CLINICALLY AND NOW SHOWING
THAT SO IT WILL BE HELPFUL TO
PEDIATRICIANS IN THE COMMUNITY.
THE THINGS LIKE I LOVE HAVING
THE MEETINGS BAU YOU HEAR OTHER
PEOPLE PRESENT AND MAKES YOU ASK
MORE QUESTIONS EVEN YESTERDAY
THE OTHER QUESTIONS I WANTED TO
KNOW IS DO WE HAVE PEOPLE TO DO
PHARMACO KINETIC STUDIES AND
CAN WE HAVE PILLS MORE IN THE
LIQUID FORM SO WE'RE NOT ALWAYS
MAKING OUR ROADS AND STREETS
MORE ACCESSIBLE FOR EVERYBODY
AND MEDICATION AVAILABLE TO
EVERYBODY REGARDLESS OF
SWALLOWING ABILITIES IS MY HOPE.
OTHER LEARNINGS WE HAVE IS WE
HAVE COMMITTED FAMILIES BUT
THERE'S ALWAYS BARRIERS TO TIME
AND RECRUITMENT SO WHEN WE SET
UP TRIALS, HOW CAN WE INCLUDE
MORE TELEHEALTH VISITS AND MAKE
IT SO WE'RE ABLE TO GET BLOOD
PRESSURE AND HEART RATE
VIRTUALLY THROUGH THE DIFFERENT
DEVICES.
HOW CAN WE SUPPORT THE KIDS IN
TERMS OF MANAGING THEIR EKG
BECAUSE THEY SAY CHECK MY BLOOD
PRESSURE.
THE KIDS THAT DIDN'T HAVE IT ARE
LIKE WHAT ARE YOU DOING?
GET THIS OFF ME.
AND UNDERSTANDING THE PEOPLE
WE'RE GETTING.
WE'RE RESCREENING 130 KIDS AND
THOSE WHO MET CRITERIA AND THOSE
INTERESTED YOU'RE GETTING MAYBE
A 10% HIT RATE.
IT ENDS UP BE A SMALL
POPULATION.
WE NEED HAVE MORE SITES IN OUR
CLINICAL TRIALS.
WE NEED EARLIER DOSES SO INSTEAD
OF WEEKLY VISITS WE'RE GOING TO
BIWEEKLY VISITS SO THE TRITATION
PHASE TAKES LONGER AND CROSSOVER
AND MAYBE SOMETHING HAPPENS AT
SCHOOL BECAUSE OF A BEHAVIOR AND
WE CHANGE OUR LABEL AND IT TAKES
A VILLAGE TO DO CLINICAL TRIALS
INCLUDING THE NIH SO APPRECIATE
YOU HAVING US HERE.
>> LET'S WELCOME OUR NEXT
SPEAKER DR. SANTORO.
>> THANK YOU SOME OF FOR THE
INTRODUCTION AND I GET THE
DISTINCT HONOR OF TALKING TO YOU
ALL ABOUT THE MOST INTERESTING
TRIAL THE NIH IS FUNDING RIGHT
NOW.
SO REALLY TALK ABOUT WHAT DOWN
SYNDROME REGRESSION IS.
THERE'S BEEN A LOT OF INTEREST
OVER THE LAST FIVE YEARS AND
SOME ACCOMPLISHMENTS IN THE
FIELD HAVE BEEN DEFINING WHAT
THIS IS AND THE FIRST SYMPTOM
REGRESSION DISORDER WAS IN 1986
AND THERE WERE A FEW CASE
REPORTS IN THE LITERATURE THOUGH
WE KNOW IT WAS AFFECTING
INDIVIDUALS IN THE COMMUNITY AND
FROM 2019 ON WITH A PAPER OUT OF
DUKE, WE SAW THAT IMMUNOTHERAPY
MAY BE A WAY TO TREAT THIS
CONDITION DIFFERENT THAN SOME OF
THE PSYCHO TROPICS WE HAD
TRADITIONALLY BEEN USING.
THE KEY FEATURES I'VE INCLUDE
THE LIST OF SYMPTOMS INDIVIDUALS
WITH DSRD EXPERIENCE BUT THE KEY
FEATURE IS IT'S SUDDEN AND
DRAMATIC AND HIGH FUNCTIONING
INDIVIDUALS WITH DOWN SYNDROME
WHO OVER WEEKS OR DAYS WILL
DETERIORATE AND LOSE FUNCTIONAL
STATUS.
PRECEDED BY STRESSORS,
ENVIRONMENTAL OR ILLNESS IN 50%
OF CASES.
THE INTERESTING PIECE IS THIS IS
OCCURRING IN INDIVIDUALS MOSTLY
BETWEEN 10 AND 30 YEARS OF AGE.
TOO LATE FOR THE TRADITIONAL
DIAGNOSIS OF AUTISM SPECTRUM
DISORDER AND TOO EARLY FOR THE
DIAGNOSIS OF ALZHEIMER'S
DISEASE.
WHEN WE LOOK AT THE SYMPTOMS,
INSOMNIA, CATATONIA AND
OBSESSIVE, COMPULSIVE ACTIVITY,
NEW AUTISTIC FEATURES WHERE THEY
DID NOT EXIST PREVIOUSLY AND
SOME YOUNG MALES WE'LL SEOSE
PSYCHOSIS AND WE'LL FIND
INDIVIDUALS LOWS THE AND LOSS OF
LANGUAGE IS A CRITICAL FEATURE
THAT BRINGS PEOPLE IN FOR
MEDICAL CARE.
AND HERE'S A MAN WITH CATATONIA
AND WHEN YOU PUT THEM IN AN
UNCOMFORTABLE POSITION THEY'LL
MAINTAIN IT IN PERPETUITY.
THIS YOUNG MAN WILL STAY THIS
WAY FOR 45 MINUTES UNLESS YOU
TAKE HIM OUT AND THIS YOUNG MAN
LOST 40 POUNDS OVER THE PERIOD
OF SIX MONTHS BECAUSE HE CAN'T
FEED HIMSELF ANYMORE BECAUSE HE
MOVES SO SLOW.
HE WILL NOT INITIATE MOVEMENT
UNLESS HE'S PHYSICALLY GUIDED.
THEY'LL TRY TO GET HIM TO TURN
AROUND HERE.
THE NEXT YOUNG MAN SHOWING THE
MAINTENANCE OF UNCOMFORTABLE
POSITIONS.
NORMALLY HE WOULD DROP HIS HANDS
AND GO BACK TO EVEN WITH
COMMANDS.
WE STARTED TO PHENOTYPE AND TRY
DIFFERENT CONDITIONS AND WE HAD
DIAGNOSTIC CRITERIA AND WORKUP
AND FOLLOWED WITH EVIDENCE OF
NEURO INFLAMMATION AND DETECT
ABNORMALITIES THAT COULD BE
MODIFIED WITH IMMUNE THERAPY AND
THE ABILITY TO TAKE PATIENTS OFF
IMMUNOTHERAPY AND HAS THE
POTENTIAL TO BE DISEASE
MODIFYING AND SAFELY PAPERS AND
THE MOST RECENT PAPER ON
NEUROIMAGING BEING PREDICTIVE OF
IMMUNOTHERAPY RESPONSE AND WE
HAD HAPPY PATIENTS.
THOSE RECOVERING THEIR ABILITY
TO DO THINGS AND ENGAGE WITH
FAMILY, LOVED ONES AND
COMMUNITIES AND THAT IMPORTANT
AS WE INCREASE OUR ABILITY TO
DETECT IT, FIND IT, TREAT IT AND
MOVE ON FROM THERE.
SO FROM THIS TIME WHERE WE'RE
REALLY JUST STARTING TO
PHENOTYPE THIS CONDITION WITHIN
A YEAR, WE'RE STARTING TO APPLY
FOR A CLINICAL TRIAL AND THEN
STARTING THE ENROLLMENT THIS IS
A COMBINED EFFORT.
LOTS OF HANDSOME INDIVIDUALS ON
THE SLIDE.
I'M ON THE FAR LEFT BUT IT'S A
GROUP EFFORT WITH UNIVERSITY OF
COLORADO AS WELL WITH A TEAM OF
PSYCHIATRISTS, NEUROLOGIST AND
PSYCHOLOGISTS ALL WORKING
TOGETHER FOR THE PURPOSES OF THE
TRIAL.
EFFICACY OF AND OUR THIRD AIM IS
TO DETERMINE ARE THERE WAYS TO
DETECT WHO IS GOING TO RESPOND
TO WHAT THERAPY?
I THINK THIS IS THE KEY UNMET
NEED WITHIN DSRD WE KNOW IT WHEN
WE SEE IT AND KNOW THERE'S A
VARIETY OF THERAPIES BUT UP
FRONT WE LACK THE ABILITY TO SAY
THIS IS THE PREFERRED TREATMENT
FOR THE INDIVIDUAL.
I KNOW I'M PREACHING TO THE
CHOIR AND PHASE II TRIALS.
FOR OUR THREE ARMS WERE ALL OPEN
LABEL.
PATIENTS KNEW WHAT WE WERE
GETTING.
WE WEREN'T ANTICIPATING PLACEBO
EFFECT AND WE HAD TREATMENT OF
LORAZEPAM AND WE HAVE AN IMMUNE
GLOBULIN AND JAK INHIBITOR,
TOFACITNIB AND A PATIENT COULD
ENROLL AND DO 12 WEEKS OF NO
THERAPY AND A LITTLE BIT SIMILAR
TO A CROSSOVER DESIGN BUT NOT
EVERY SINGLE PATIENT HAD TO GO
THROUGH THAT.
WE LOOKED AT DIFFERENT MEASURES.
THE STUDY DESIGN WAS RELATIVELY
SIMPLISTIC.
THERE WAS A SCREENING PERIOD
THAT OCCURS WITHIN FOUR WEEKS OF
THE ENROLLMENT AND RANDOMIZED ON
THE BASELINE VISIT AND GETTING
EVERY TWO WEEK VISIT FOR THE
FIRST MONTH SPACING OUT THERE
AFTER WITH MRI STUDIES BACK
SIDE.
BECAUSE WE USE THE CLINICAL
CRITERIA WE WERE ABLE TO OBVIATE
THE REPEAT AS PATIENTS ENROLLED.
THE BIGGEST PIECE IS WE KNOW
SOME WORK IN A HETEROGENOUS
COHORT HAND TO FIGURE OUT IF
IT'S EVIDENCE OF INFLAMMATION
AKIN TO AUTO IMMUNE OR INTRINSIC
TO INDIVIDUALS WITH DOWN
SYNDROME AND WE THINK DSRD MAY
BE SPECIFIC TO INDIVIDUALS WITH
DOWN SYNDROME.
WE'RE LOOKING AT THE SECONDARY
RATES VERSUS THE PSYCHO TROPIC
MEDICATIONS SUCH AS BENZ OWE --
BENZ ODIAZAPINES AND LOOKING AT
THOSE WHO SHOULD GO ON TO
IMMUNOTHERAPY VERSUS NOT AND
USING A CLINICAL TRIAL TO DO THE
BASIC SCIENCE WORK.
AND WE CAN SYNERGIZE OUR
CLINICAL TRIALS GOING FORWARD.
I HAVE A BRIEF UPDATE.
WE HAD TO DEFER A LOT OF PATIENT
WHO'S HAVE SYMPTOMS AND MEET
CRITERIA AND HAVE ALL THE
DIAGNOSTIC STUDIES DONE BUT
CAN'T GET THEM IN AND THEY'RE
READY FOR THE R33 PHASE AND HOPE
TO GET IT READY WITH THE NIH
SUMMER OF 2024.
ENROLLMENT PROCEEDED MUCH FASTER
THAN WE THOUGHT AND THESE ARE
THE SLIDES WE WANT TO SHOW WE'RE
THREE TO FOUR MONTHS AHEAD OF
SCHEDULE BECAUSE THERE WAS HIGH
INTEREST AND THE OUTCOME WE'RE
SEEING.
WHEN WE LOOKED AT THE
RANDOMIZATION FOR THE FIRST 16
PATIENTS IT WAS PRETTY EVEN
ACROSS THE BOARD.
NO SURPRISE THERE'S.
AND THE EARLY FINDINGS, I DON'T
HAVE THE GREAT PRELIM DATA BUT
THE RAPID ENROLLMENT WAS EVIDENT
EARLY AT OUR L.A. SITE
APPROXIMATELY 60% OF PATIENTS
TRAVELED GREATER THAN 500 MILES
TO PARTICIPATE IN THE STUDY
THERE WERE NO SERIOUS ADVERSE
EVENTS.
NO PATIENT DISCONTINUED ON ANY
ARM OF THE THERAPY AND PATIENTS
WERE RESPONDING TO EACH OF THE
THREE TREATMENTS WHICH IS WHAT
WE WERE ANTICIPATING.
THIS IS EVIDENCE OF ONE OF OUR
GREATER COLLABORATIONS.
IT'S PAIRING BASIC SCIENCE WITH
CLINICAL MEDICINE AND PAIRING S,
SCIENTISTS, SELF-ADVOCATES AND
FAMILIES TOGETHER.
I INCLUDED OUR RESEARCH E-MAILS
IF YOU HAVE INDIVIDUALS
INTERESTED OR MIGHT MEET
CRITERIA AND I PUT MY PERSONAL
E-MAIL AT THE BOTTOM IF YOU HAVE
QUESTIONS BUT I APPRECIATE
YOU'RE TIME AND HAPPY TALK
AFTERWARDS ABOUT THE TRIAL.
I'D LIKE TO WILL COME OUR NEXT
SPEAKER.
MAYOR THEY'RE OUT OF ORDER.
DR. HEAD.
>> I'M GOING TO GO BEFORE MIKE
BECAUSE MIKE HAS TO HAVE THE FUN
ENDING TO THE CONVERSATION ABOUT
ALZHEIMER'S DISEASE.
I'LL TALK ABOUT THE LINK BETWEEN
DOWN SYNDROME AND ALZHEIMER'S
DISEASE SO WE'RE ALL ON THE SAME
PAGE.
I KNOW MANY KNOW ALREADY BUT
TRISOMY 21 IS THE MOST COMMON
CAUSE OF DOWN SYNDROME AND
THERE'S THE AMYLOID PRECURSOR
PROTEIN CLEAVED TO TAU PROTEIN
AN UNDERLYING PATHOLOGY IN
ALZHEIMER'S.
THAT MEANS PEOPLE WITH DOWN
SYNDROME SHOW AN EARLY AGE OF
ONSET OF THIS BETA AMYLOID
PROTEIN AND IT'S VERY AGE
DEPENDENT.
IN OTHER WORDS, BASED ON THE AGE
OF A PERSON WITH DOWN SYNDROME
WE CAN PREDICT PRETTY WELL HOW
MUCH BETA AMYLOID THEY HAVE IN
THEIR IT BRAINS BY 40 A PERSON
WILL HAVE NEURAL PATHOLOGY IN
THEIR BRAINS.
IT DOES NOT MEAN THEY HAVE
DEMENTIA.
THESE ARE CLEAR AND DISTINCT.
AND IT ALSO TELLS US DOWN
SYNDROME IS THE MOST COMMON FORM
OF GENETIC ALZHEIMERS DISEASE.
WE HAVE OVER 250,000 PEOPLE WITH
DOWN SYNDROME IN THE U.S. AND
ESTIMATE OVER 6 MILLION PEOPLE
AROUND THE WORLD AT HIGH RISK
FOR DEVELOPING ALZHEIMER'S
DISEASE.
GOOD NEWS IS THAT PEOPLE WITH
DOWN SYNDROME ARE LIVING LONGER.
WE SAW SOME STATISTICS YESTERDAY
AND THE MOST RAPIDLY GROWING AGE
COHORT ARE AGES BETWEEN 40 AND
50 YEARS.
THAT'S THE TIME WHERE WE SEE
FULL A.D. PATHOLOGY IN TEAM'S
BRAINS.
THE AGE OF ONSET OF A PERSON
WITH DEMENTIA IS BETWEEN 50 AND
55 YEARS.
THIS IS REMARKABLY CONSISTENT
ACROSS COHORTS INTERNATIONALLY
AND NATIONALLY.
AND THE AVERAGE AGE OF DEATH FOR
A PERSONAL WOULD BE ABOUT 58.4
YEARS OF AGE.
THIS IS A VERY RAPID DISEASE
PROCESS APPROXIMATELY UNDER FIVE
YEARS DIAGNOSIS TO WHEN THAT
PERSON MAY PASS AWAY.
THE NEWS ISN'T ALL BAD.
WE NEED TO KNOW THE STATISTICS.
I WANT YOU ALL TO UNDERSTAND HOW
URGENT WE THINK THE PROBLEM IS
AND SEEING SOME PEOPLE WITH DOWN
SYNDROME WITH FULL TRISOMY 21
GETTING IN THEIR 60s AND 70s
WITH FULL BLOWN A.D. PATHOLOGY
IN THEIR BRAINS BUT NOT SEEING
DECOGNITION AND WE'RE
INFORMATION RESILIENCE TO
ALZHEIMER'S DISEASE.
I'M LEARNING THIS FROM PEOPLE
WITH DOWN SYNDROME.
ADDITIONAL STATISTICS ARE PEOPLE
WITH DOWN SYNDROME WHO ARE WHITE
ARE MOST REPRESENTED IN OUR
RESEARCH BECAUSE THEY'RE LIVING
LONGEST.
WE'RE STUMBLING TO RECRUIT
PEOPLE WHO ARE BLACK BECAUSE
THEIR LIVES ARE SHORTER AND
OTHER ETHNICITY AND RACES ARE
AFFECTED IN TERMS OF LIFE SPAN.
IT'S NOT BIOLOGICAL.
IT'S A HEALTH DISPARITY ISSUE.
WE NEED TO EXTEND LIFE.
OUR TRACK RECORD ISN'T IS GREAT.
OF ALL THE CLINICAL TRIALS LOOK
AT TREATING DEMENTIA IS BASED ON
SMALL COHORT SIZES WITH LIMITED
OUTCOMES AND SO FAR THERE'S NO
EVIDENCE ANY OF THE CURRENTLY
AVAILABLE DRUGS TO TREAT
ALZHEIMER'S DISEASE LOOK FOR
PEOPLE WITH DOWN SYNDROME.
IT DOESN'T MEAN WE SHOULDN'T BE
TRYING MEDICATION.
THEY DO WORK FOR SOME PEOPLE BUT
THE EVIDENCE IS WE NEED TO DO
BETTER.
PEOPLE WITH DOWN SYNDROME ARE
SPECIFICALLY EXCLUDED IN
CLINICAL TRIALS FOR ALZHEIMER'S
DISEASE AND THAT'S A LITTLE BIT
OF A HEARTBREAK AND DRA RAFII
WILL TALK NEXT ABOUT BUILDING
THESE TRIALS FOR PEOPLE WITH
DOWN SYNDROME.
WE NEED TO UNDERSTAND WHAT THE
NATURAL HISTORY OF COGNITIVE
CHANGES IN PEOPLE WITH DOWN
SYNDROME.
WE ALSO NEED TO UNDERSTAND WHAT
ARE ALL THE BIOMARKERS THAT WE
CAN USE TO PREDICT WHEN AND IF A
PERSON WILL COME DOWN WIN
COGNITIVE DEMENTIA AND WE
COLLECT LOTS OF BIO SAMPLES AND
COLLECT BIO IMAGING.
THERE'S THREE WONDERFUL COHORT
STUDIES AND THEY EXCHANGE
INFORMATION SO THIS WHOLE EFFORT
IS INTERNATIONAL.
THERE'S A GROUP IN BARCELONA,
SPAIN FOLLOWING A COHORT OF
PEOPLE WITH DOWN SYNDROME AS
THEY AGE.
AND THERE'S A COHORT IN LONDON
IN THE UNITED KINGDOM AND
HIGHLIGHT OUR WORK BY THE
ALZHEIMER'S BIOMEDICAL
CONSORTIUM IN THE U.S.
AND THERE'S PEOPLE HERE ALWAYS
ON OUR CALL AND WE HAVE A
PROGRAM OFFICER AND THERE'S THE
WEBSITE IF YOU GOOGLE NIH ABCDS
YOU'LL FIND US.
WE RECRUIT PEOPLE 25 YEARS AND
OLDER AND SPEAK TO THEM EVERY 16
MONTHS AND ASSESS NEURAL
PSYCHOLOGICAL FUNCTION AND GET
AN ASSESSMENT OF NEUROLOGICAL
AND MEDICAL ISSUES AND CAPTURE
IMAGING FOR AMYLOID AND TAU AND
GLUCOSE UTILIZATION AND COLLECT
PLASMA FOR FLUID BIOMARKER
STUDIES AND SOME ARE WILLING TO
DO LUMBAR PUNCTURE BUT I SUSPECT
WE'LL DRIFT AWAY FROM THAT IN
THE FUTURE BECAUSE OUR PLASMA
PROTEIN LEVELS ARE GETTING GOOD
AND WE'RE PRETTY CONFIDENT WE
NEURO PSYCHOLOGICAL OUTCOME
MEASURES TO TELL US ABOUT
DIAGNOSTIC AND HELP DIAGNOSE
PEOPLE AND SERVE AS OUTCOME
MEASURES FOR CLINICAL TRIALS.
THAT'S THE INFORMATION WE SHARED
WITH THE COMMUNITY.
AND WE'VE ALSO BEEN REALLY
ENCOURAGING PEOPLE IN ABC-DS TO
ENROLL TO TRACK DS DR. RAFII
WILL TELL YOU MORE ABOUT AND GO
INTO CLINICAL TRIALS BASED ON
PARTICIPATING IN OUR STUDY.
WE'RE TRYING TO PUT THE DATA
TOGETHER AND IMAGING AND PLASMA
DATA INTO A FRAMEWORK THAT IS
COMMONLY DESCRIBED AS THE JAK
CURVE THAT DESCRIBES HOW BETA
AMYLOID ENTANGLE PATHOLOGY
EVOLVE AS THE DISEASE PROGRESS.
ON THE X AXIS YOU SEE CLINICAL
DISEASE STAGE.
THEY PROGRESS FROM BEING
NON-IMPAIRED TO MILD IMPAIRMENT
TO OVERT DEMENTIA AND THIS SHOWS
BETA AMYLOID SHOWS UP FIRST AS
AN EARLY BIOMARKER AND THEN
EVIDENCE FOR TAU PATHOLOGY AND
THEN EVIDENCE FOR NEURO
DEGENERATION BY MRI AND SEEING
THE BRAIN SHRINK AND FULL BLOWN
DEMENTIA EVOLVES LATER.
IN DOWN SYNDROME WE HAVE AN
OPPORTUNITY WE CAN PUT AGE AND
SAY AT DIFFERENT AGES WE CAN
PREDICT WHAT KINDS OF PATHOLOGY
ARE PRESENT AND SAY AT A CERTAIN
AGE THIS IS THE TARGET WE SHOULD
GO AFTER IN TERMS OF
INTERVENTION.
AT A DIFFERENT AGE, WE MAY BE
TARGETING TWO PATHOLOGIES OR
THREE.
THAT EMPOWERS US IN CLINICAL
TRIAL DESIGN AND GIVES AN
OPPORTUNITY TO MAKE SURE WE'RE
WITHIN CERTAIN SAFETY WINDOWS.
I'LL TELL YOU WHY I THINK THAT'S
IMPORTANT.
SOME CLINICAL TRIALS WE MAY BE
CONSIDERING LIKE BETA AMYLOID
IMMUNOTHERAPY HAVE SOME ADVERSE
EVENTS AND MAYBE WE CAN
UNDERSTAND WHEN WE MIGHT EXPECT
OR PREDICT THOSE IN PEOPLE WITH
DOWN SYNDROME AND AVOID THAT
BASED ON THE AGE OF THE PERSON.
HERE'S THE ONE EXAMPLE I'LL
GIVE.
LET'S TALK ABOUT VASCULAR
PATHOLOGY IN PEOPLE WITH DOWN
SYNDROME AND THEY'RE TYPICALLY
PROTECTED FROM A LOT OF RISK
FACTORS.
THEY DON'T DEVELOP
ATHEROSCLEROSIS FREQUENTLY.
THEY HAVE LITTLE HYPERTENSION
AND THERE WAYS POSTER ON THAT
YESTERDAY AND STILL UPSTAIRS.
ON THE OTHER HAND WE DO HAVE
FACTOR DO DRIVE FACTORS
INCLUDING OBESITY, BEING
OVERWEIGHT AND SLEEP APNEA AND
CAN REDUCE RISK FOR ALZHEIMER'S
IN THE LONG RUN AND WE'RE SEEING
BETA AMYLOID ACCUMULATE AROUND
THE BLOOD VESSELS IN THE BRAIN
AND THIS IS WHAT THEY LOOK LIKE.
THE BETA AMYLOID YOU CAN SEE THE
BIG BROWN BLOBS ARE PLAQUES AND
THE SQUIGGLES ARE CAKED WITH
THIS PROTEIN.
THEY CAN'T CONSTRICT AND DILATE
PROPERLY AND BECOME BUILT ER
BRITTLE AND MAY BREAK AND WE SEE
A LOT OF THIS PATHOLOGY AFTER
PEOPLE ARE 50 YEARS OF AGE OR
OLDER.
AND ASSOCIATED WITH THAT IS
MICROBLEEDS IN THE BRAIN BECAUSE
THEY'RE PATHOLOGICAL.
WE SEE LOTS OF THE MICROBLEEDS
IN THE BRAIN OF PEOPLE WITH DOWN
SYNDROME BUT IT'S NOT MORE
EXTENSIVE THAN WHAT WE SEE IN
SPORADIC ALZHEIMER'S DISEASE.
WE'RE TRANSLATE THESE AND THAT'S
ONE THING THAT MAY BE GOOD.
WE HAVE AMYLOID RELATED MYELOID
ABNORMALITIES TO SO PEOPLE WITH
A LOT OF BLEEDS IN THEIR BRAINS
MAY SHOW I'D SIDE EFFECTS.
WE CAN AVOID THAT AS A POSSIBLE
SIDE EFFECT BY GOING YOUNGER.
I WANTED TO THANK OUR VOLUNTEERS
WITH DOWN SYNDROME.
BEING INVOLVED IN THE RESEARCH
IS A JOY AND INSPIRATION.
I WANT TO THANK MY LAB DOING THE
HANDS ON WORK UNDERSTANDING THE
PATHOLOGIES AND I'LL LEAVE OUR
WEBSITE UP HERE FOR YOU TO LOOK
AT.
THANK YOU VERY MUCH.
>> I'LL INTRODUCE OUR LAST
SPEAKER DR. RAFII TALKING ABOUT
CLINICAL TRIALS TARGETING AD IN
DOWN SYNDROME.
>> THESE ARE MY DISCLOSURES.
WHERE HE WERE FUNDED BY THE R61,
R33 MECHANISM TO LEVERAGE THE
ACTC, ALZHEIMER'S CLINICAL TRIAL
CONSORTIUM FOR ALZHEIMER'S
DISEASE AND HAVE STUDIES
SPECIFICALLY DESIGN FOR DOWN
SYNDROME.
WE WANTED TO HAVE A TRIAL-READY
COHORT TO FACILITATE EFFICIENT
ENROLLMENT AND MAKE SURE THEY'RE
MEDICALLY STABLE AND WOULDN'T BE
EXCLUDED FROM THE CRITERIA WE
HAVE FOR OUR TRIALS.
WE WERE PLANNING TO ENROLL 120
NON-DEPAR
NON-DEMENTED ADULTS AND CONDUCT
A RANDOMIZED CLINICAL TRIAL OF
AN ANTI-AMYLOID THERAPY.
WE'VE HAD SOME CHALLENGES.
WE WERE FUNDED PRIOR TO THE
COVID-19 COVID PANDEMIC AND
WORKED WITH A DRUG WITH OVER A
DECADE OF DATA SAFETY BEHIND IT
AND WAS AMENABLE FOR THE
POPULATION BUT THE DRUG HAD
NEGATIVE PHASE III RESULTS.
AND ALSO WE FACED SIGNIFICANT
DELAYS WORKING WEDGE OUR
EUROPEAN PARTNERS.
THIS IS OUR WORLDWIDE EFFORT TO
BRING TREATMENT TO THE
POPULATION THAT HAS BEEN
EXCLUDED FOR SO LONG.
BUT WE'VE HAD SUCCESSES WITH
ENROLLMENT WITH ABC-DS AND TRACK
DS NOW EXISTS AND THERE'S A
NETWORK AND COMPANIES AND
INDUSTRY ARE PARTNERING WITH US
TO BRING SOME OF THEIR
TREATMENTS TO THIS POPULATION.
THIS IS THE NETWORK.
WE HAVE ABOUT 20 SITES AROUND
THE WORLD, 14 IN THE U.S., SIX
IN EUROPE AND USING A HARMONIZED
PROTOCOL AND ICF TRANSLATED TO
SEVERAL LANGUAGES.
THE TRIAL READY COHORT IS NOW
CLOSE TO 250 PARTICIPANTS.
AND RECRUITS FROM THE NIH
CONNECT REGISTRY, DIRECT
RECRUITMENT AT OUR SITES AND
ALSO IMPORTANTLY, CO-ENROLLMENT
WITH ABC-DS.
THE IDEA IS PARTICIPANTS AT THE
SITES WOULD BE OFFERED ONE OF
SEVERAL CLINICAL TRIALS THEY MAY
BE ELIGIBLE FOR AT THE
COMPLETION OF THOSE TRIALS, THEY
WOULD BE ABLE TO RE-ENTER BACK
TOO THE TRIAL-READY COHORT.
AS WE THINK ABOUT THE ABC-DS
DATA AND UNDERSTANDING THE
NATURAL HISTORY OF ALZHEIMER'S
DISEASE WE'VE BEEN ABLE TO PLACE
INDIVIDUALS WITH DOWN SYNDROME
ON THE AD CONTINUUM AND THE
CONTINUUM HAS BEEN MOVING
TOWARDS THE EARLIER STAGES OF
ALZHEIMER'S DISEASE THE
PRECLINICAL A.D. STAGE TO
IDENTIFY INDIVIDUALS
ASYMPTOMATIC BUT HARBOR THE
PATHOLOGY OF ALZHEIMER'S DISEASE
WE REFER TO AS SECONDARY P
PREVEN
PREVENTION.
WE MAYBE ABLE IT DO THE SAME IN
THE GENETIC POPULATION.
THINK OF CLINICAL TRIALS AND
UTILIZING THE VAST AMOUNT OF
DATA BEING COLLECTED IN ABC-DS
WE'VE HAD LEARNINGS.
ONE IS THOUGH THERE'S A
PREDILECTION TO AMYLOID
POSITIVITY, THERE'S A UNIQUE
PATTERN.
HERE ON THE X AXIS YOU SEE THE
DIFFERENT AGE RANGES IN
PARTICIPANTS IN ABC-DS AND ON
THE Y OF INDIVIDUALS AMYLOID
POSITIVE ON PET USING THREE
THRESHOLDS ON POSITIVITY.
YOU'LL SEE BETWEEN THE AGES OF
40 AND 45 ABOUT 60% OF
INDIVIDUALS WOULD BE AMYLOID PET
POSITIVE USING THE THRESHOLD OF
20.
IF YOU LOOK AT THOSE YOU HAVE
ABOUT 40% PET POSITIVE.
BETWEEN 55 AND 60, THIS
PERCENTAGE INCREASES SO IT'S
WELL OVER 90% WOULD IN AMYLOID
PET POSITIVE.
LOOK AT THOSE UNDER THE AGE OF
40, LESS THAN 5% THAT WOULD BE
CRITICAL IN IDENTIFYING THOSE
FOR OUR TRIALS.
WE'D WANT TO MAKE SURE WE THINK
ABOUT PRESCREENING METHODS SO
WE'RE ABLE TO IDENTIFY THE FEW
INDIVIDUALS UNDER 40 WHO MAY
HAVE LESS MICROBLEEDS AND LESS
CO-EXISTING CONDITIONS THAT MAY
BE SAFETY COMPOUNDS AND TREAT
THEM SAFELY WITH THE
IMMUNOTHERAPIES AVAILABLE.
THE Y AXIS IS CLINICAL DIAGNOSES
AND THE BLUE IS COGNITIVELY
STABLE AND THE GRAY IS DEMENTIA.
THE DASHED VERTICAL LINE AND
LOOK AT THE BLUE LINE THE VAST
MAJORITY OF INDIVIDUALS UNDER 40
ARE COGNITIVELY STABLE
PERFORMING QUITE WELL AND OVER
45 YOU SEE THE PROPORTION DROPS.
AND THOSE WOULD BE THE WILL
HAVES WHO HAVE AMYLOID PATHOLOGY
IN THE BRAIN BUT DO NOT
DEMONSTRATE SYMPTOMS.
THOSE THE INDIVIDUALS THAT ALSO
IN THE GENERAL POPULATION MAY BE
THE POPULATION THAT WOULD SHOW
THE MOST EFFICACY IN
INTERVENTION.
THE EARLIEST STAGE OF
ALZHEIMER'S DISEASE THAT CAN BE
DETECTED PRIOR TO SIGNIFICANT
TANGLE PATHOLOGY OR NEURO
DEGENERATION.
THERE'S SEVERAL TARGETS IN
TREATING ALZHEIMER'S DISEASE.
THE IMMUNOTHERAPY PATHWAY
TARGETS VARIOUS SPECIES OF BETA
AMYLOID PRODUCED.
AND IN THE GENETIC FORMS OF
ALZHEIMER'S DISEASE THESE ARE
OVER PRODUCED.
SO ONE CLEAR TARGET WOULD BE TO
GO AFTER THOSE MONOMERS AND
THERE'S MONOCLONAL ANTIBODY
TREATMENTS AGAINST BETA AMYLOID.
ONE IS USED IN CLINICAL
PRACTICE.
NONE OF THE TRIALS THAT IT STUDY
THE MONOCLONAL ANTIBODIES
INCLUDED A SINGLE PERSON WITH
DOWN SYNDROME.
THOUGH THESE DRUGS ARE AVAILABLE
IN THE POPULATION, CLINICIANS
ARE WONDERING GIVEN THE URGENCY
IN BRINGING TREATMENT TO THIS
POPULATION SHOULD THEY PRE IT OR
NOT AND THEY HAVE NO GUIDANCE.
ON THE RIGHT IS ONE OTHER
MECHANISM TO CONSIDER AND THAT
IS TARGETING APP ITSELF AS
DR. HEAD MENTIONED THE EXTRA
COPY OF APP GENE LEADS TO AN
OVERPRODUCTION OF APP PROTEIN
AND THAT LEADS TO THE CASES OF
PEOPLE WITH BETA AMYLOID AND
THEY DO NOT EXHIBIT ALZHEIMER'S
PATHOLOGY OR SYMPTOMOTOLOGY.
WE HELPED DEVELOP A VACCINE
DELIVERED TO INDIVIDUALS IN A
GENERAL POPULATION AND TRIALS
AND ALSO IN THE DOWN SYNDROME
POPULATION.
THIS WAYS VERY SMALL TRIAL.
WE THOUGHT A VACCINE WOULD BE
SIMILAR TO SUB CUTANEOUS
ADMINISTRATION, SOMETHING MORE
AMENABLE FOR THIS POPULATION.
WE HAD NO CASES OF THE AMYLOID
RELATED IMAGING ASSOCIATED AND
NO EVIDENCE OF CNS INFLAMMATION,
AGAIN, THAT BEING A CONCERN IN
THIS POPULATION AS MENTIONED BY
DR. SANTORO.
ONLY A PERCENTAGE DEVELOPED THE
TITERS AND WERE NOT ASSOCIATED
AND 33% TOLD US WE DOSED IT TOO
LOW.
IT DID NOT ELICIT ENOUGH OF AN
IMMUNE RESPONSE.
WE LAUNCHED THE ABATE TRAIL.
AN ACT-DS TRIAL USING OUR SITES
AND METHODOLOGIES TO RUN THE
BEST TRIAL IN THE SAFEST WAY FOR
THE POPULATION.
IT'S A DOUBLE-BLIND TRIAL
LOOKING AT SAFETY AND
TOLERABILITY.
OUR GOAL IS TO HIT 80
PARTICIPANTS WITH EVIDENCE OF
AMYLOID AND IT SEEMS TO BE THE
AGE RANGE WITH THE LEAST AMOUNT
OF MICROHEMORRHAGES AND THE
BEGINS OF AMYLOID ELEVATION AND
WOULD HAVE TO HAVE PRIOR
EVIDENCE OF TESTING WITH HIGH
RATES IN THAT GROUP.
PATIENTS WILL RECEIVE SIX
INTRAMUSCULAR INJECTIONS WITH A
26 AL FOLLOW UP AND 14 SITES,
SEVEN IN THE U.S. AND E.U.
PARTICIPATING IN THE STUDY WITH
THREE MORE U.S. SITES UNDER
CONSIDERATION.
THE STUDY WAS LAUNCHED LAST YEAR
AND IS ONGOING.
OTHER TARGETS INCLUDE APP AND
THE USE OF MONOCLONAL
ANTIBODIES.
WE'LL BE LAUNCHING A SECOND
TRIAL THIS SUMMER USING AN
ANTI-APPASO AN ANTI-OLIGO
NUCLEOTIDE GIVEN DIRECTLY IN THE
CNS TO EXPRESS THE EXPRESSION OF
APP PROTEIN FROM THE mRNA.
LATER THIS YEAR WE'LL LAUNCH AN
MONOCLONAL ANTIBODY TRIAL IN
THIS POPULATION TO TEST THE
SAFETY AND EFFICACY IN DOWN
SYNDROME AND AS WE THINK OF THE
PROTOCOLS AND MESSAGING AND
COLLABORATING WITH OUR
COMMUNITY, WE'VE PUT TOGETHER A
RESEARCH PARTICIPANT ADVISORY
BOARD.
THIS IS MODELS AFTER THE ACTC
RESEARCH PARTICIPANT ADVISORY
BOARD AND REALLY A PARTNERSHIP
ACROSS ACT-DS AND WE HAVE
SEVERAL MEMBERS HERE AS WELL AS
INDIVIDUALS FROM ACTC-DS AND
INDIVIDUALS AND REVIEWING US TO
MAKE SURE THEY'RE PROVIDING US
WITH INPUT ON WHAT IS TOO MUCH
BURDEN FOR TESTING, COGNITIVE
TESTING, IMAGING AND BLOOD DRAWS
AND SO ON SO THE TESTS ARE NOT
CONSIDERED TOO BURDENSOME AND
WOULD SOMEHOW PROHIBIT THEM FROM
WANTING TO PARTICIPATE.
WE'RE GETTING FEEDBACK FOR THE
POSSIBILITY OF CLINICS IN THE
EVENING.
MANY PARTICIPANTS HAVE JOBS AND
FEEL DEVOTED AND COMMITTED AND
WOULD LIKE TO HAVE FLEXIBILITY
IF PARTICIPATING IN RESEARCH.
WE'RE ACTIVELY WORKING ON WAYS
TO IMPROVE OUR PROTOCOL.
IN SUMMARY, SIGNIFICANT ADVANCES
HAVE BEEN MADE IN UNDERSTANDING
THE NATURAL HISTORY OF AD BIO
MARKERS AND THE REVISED CRITERIA
THAT DEFINE ALZHEIMER'S DISEASE
FOR THE FIRST TIME INCLUDE
PEOPLE WITH DOWN SYNDROME.
THIS ACKNOWLEDGE S THE GENETIC
BASIS FOR ALZHEIMER'S IN
POPULATION AND PUTS PEOPLE WITH
DOWN SYNDROME ON THE SAME
FOOTING AT AUTOSOMAL DOMINANT
AND AD AND CONSIDERED STAGE ZERO
OF ALZHEIMER'S DISEASE.
THERE'S THREE TRIALS FOR DISEASE
MODIFYING TREATMENTS AGAINST
ALZHEIMER'S DISEASE IF THE
POPULATION AND COMBINED WITH
ADDITIONAL COLLABORATORS AND
CONTINUE TO WORK TO BRING OTHER
IMMUNOTHERAPIES AND OTHER
MECHANISMS OF ACTION TO THIS
POPULATION SO THAT WE CAN GET
RID OF THE LEADING CAUSE OF
DEATH IN ADULTS WITH DOWN
SYNDROME.
WE HAVE SEVERAL COLLABORATORS
ACROSS ACTC-DS AND ABC-DS AND TE
COORDINATING CENTER.
THANK YOU VERY MUCH.
>> SO WE HAVE 10 MINUTES FOR
QUESTIONS.
SO PLEASE COME UP.
I WANT TO CONGRATULATION ALL THE
PANELISTS.
AS A PERSON WHO PAID MY TAXES
YESTERDAY I'M PROUD THEY GO IT
TO YOU.
DR. RAFII, MAY I ASK YOU, HOW
COMPLICATED HAS IT BEEN IN LIGHT
OF SOME CONTROVERSIES OVER THE
AMYLOID HYPOTHESIS IN TERMS OF
RECRUITMENT AND WHAT IS YOUR
PERSPECTIVE ON THE COVERAGE
ABOUT THE AMYLOID HYPOTHESIS?
THANK YOU.
>> I THINK THE CONTROVERSY HAS
SETTLED SINCE WE HAVE RANDOMIZED
PLACEBO TRIALS SHOWING TARGETING
AMYLOID IN WHAT'S CALLED EARLY
AD INDIVIDUALS WITH ELEVATED AD
OR MILD DEMENTIA PHASE HAS AN
EFFECT.
THESE TREATMENTS REDUCE AMYLOID
BY 50% OR EVEN 100% OVER 18
MONTHS AND SHOWN A 30% REDUCTION
IN COGNITIVE DECLINE.
36% MAY NOT SEEM SO MUCH BUT
WE'RE NOW RUNNING SECONDARY
PREVENTION TRIALS INCLUDING THE
HEAD STUDY AT AN EARLY STAGE TO
AROUNDS THAT QUESTION OF REMOVAL
OF AMYLOID PRIOR TO NEURO
DEGENERATION.
IN THOSE STUDIES WE HAVE SEEN
THE EARLY PARTICIPANTS THOSE
INDIVIDUALS WITH LESS PATHOLOGY
DID BETTER.
SO I BELIEVE WE'RE ON THE RIGHT
TRACK IN AMYLOID.
WARE READY TO LAUNCH THE AP TAU
PLATFORM THAT TARGETS AMYLOID
AND TAU AND IT COULD BE WE NEED
COMBINATION THERAPY AT THE LATER
STAGE OF THE DISEASE TO SEE
EFFICACY.
GIVEN THE URGENCY AND WHAT
CLINICIANS ARE FACING EVERY DAY
OUR RECRUITMENT AS EVIDENCE BY
ABC-DS AND TRACK DS IS MORE THAN
WE EXPECTED AND I THINK IT
REFLECTS THE DEMAND BY THIS
POPULATION TO GET ACCESS TO NEW
TREATMENTS.
>> I WANT TO CONGRATULATE THE
PANEL EFFORTS.
YOU DID A FANTASTIC JOB, THANK
YOU VERY MUCH.
I WANT TO ASK ABOUT ALZHEIMER'S
AND MAYBE FOR DR. SANTORO AND
RAFII AND DR. HEAD, HOW DO YOU
DETERMINE COGNITIVE FUNCTIONING?
I MEAN, IT'S A RANGE HOW DO YOU
DEFINE THAT?
NOBODY SPOKE ABOUT THAT.
>> THE ASSESSMENT OF COGNITION
IN THE GENERAL POPULATION CAN BE
CHALLENGING ENOUGH TO UNDERSTAND
THE VARIABILITY OVER TIME BUT
OVER THE LAST 30 YEARS THERE'S
BEEN INSTRUMENTS PRODUCED,
TESTED, VALIDATED TO DETECT
COGNITIVE CHANGE IN INDIVIDUALS
ASYMPTOMATIC AND THERE'S
SENSITIVITY TO EARLY COGNITIVE
DECLINE RELATED TO AMYLOID IN
THE BRAIN AND HAVE BEEN
VALIDATED AND ANCHORED WITH
BIOMARKERS BUT TO SPECIFICALLY
ANSWER YOUR QUESTION, THERE'S A
BATTERY OF TESTS IN ABC-DS THAT
BUILD ON DECADES OF RESEARCH
FUNDED BY THE NIH ACROSS SEVERAL
CENTERS PROVIDING THE BASIS FOR
USING THE BEST TOOLS TO IDENTIFY
INDIVIDUALS THEIR FULL COGNITION
AND I.Q. AND THOSE TESTS ALLOW
THE CONSENSUS DIAGNOSIS TO BE
MADE WHETHER SOMEONE IS
COGNITIVELY STABLE, IMPAIRED OR
DEMENTED.
>> THANK YOU.
I'D LIKE TO SEE CONCRETELY THE
PRESENTATION ON JUST THAT.
THANK YOU SO MUCH.
>> IT OCCURS TO ME I STUDY
AUDITORY DEVELOPMENT ACROSS THE
LIFE SPAN AND RATES OF HEARING
LOSS IN BOTH CHILDREN AND ADULTS
PROBABLY FOR DIFFERENT REASONS
ARE VERY HIGH WITH PREVALENCE
RATES UP TO 75% OR 80% AND WE
KNOW EVEN MILD HEARING LOSS CAN
PRESENT AS ADHD OR AFFECT YOUR
ABILITY TO DO A COGNITIVE TEST
OR MAYBE CONTRIBUTE TO SYMPTOMS
OF DEMENTIA AND FOR THOSE
MEASURING BEHAVIOR, HOW DO YOU
CONSIDER AND MEASURE HEARING
LOSS AND LOOK AT IT AS A FACTOR
AND IT MAY BE OUTSIDE THE SCOPE
OF WHAT DO YOU BUT IN OUR FIELD
THERE'S SOME REAL CLEAR EVIDENCE
HEARING LOSS CAN LEAD TO
BEHAVIORAL DIFFERENCES.
I'M WONDERING HOW AND WHAT YOU
DO TO CONSIDER HEARING LOSS IN
THESE MODELS.
>> IT'S A GREAT QUESTION.
FOR REGRESSION THE DIAGNOSIS IS
ONE OF EXCLUSION.
IF YOU LOOK AT THE CONSENSUS
CRITERIA WE'RE GOING THROUGH
SYSTEMATICALLY AND ASKING
QUESTIONS HAS THERE BEEN A
DECLINE IN ANY OF THESE SPECIFIC
FUNCTIONS AND GETTING TEST IN
ABSENCE OF CLINICAL SYMPTOMS AND
KNOW IT'S ISOLATED TO A
PARTICULAR DOMAIN IS EASIER THAN
GOING THROUGH THE PROCESS.
>> SO DO YOU MEASURE HEARING OR
ASK PEOPLE?
IT'S A VERY DIFFERENT -- YOU'LL
GET A VERY DIFFERENT ANSWER
ESPECIALLY IN CHILDREN WHO MAY
HAVE HEARING LOSS.
>> THEY TEND TO HAVE A LOT OF
TESTS 40% HAD A HEARING TEST WIN
A YEAR OR ORDER IT PART OF THE
DIAGNOSTIC WORK UP BUT IT'S NOT
STANDARD UNLESS THERE'S CLINICAL
SYMPTOMS ISOLATED TO LANGUAGE
DOMAIN.
>> THAT MAKES SENSE, OF COURSE.
>> AND THEN FOR OURS WE DO A
SCREENING FOR ADHD INDICATIONS.
WE'RE DOING DIFFERENTIAL
DIAGNOSES AND DOING COLLECTING
OF CO-OCCURRING CONDITIONS.
THANK YOU BECAUSE I FORGOT
SOMETHING I WANTED TO SAY AND
THAT'S THE ADDITIONAL CHALLENGE
NONE OF OUR KIDS ARE PURELY DOWN
SYNDROME OR ADHD.
THERE'LL BE CO-OCCURRING
CONDITIONS.
IN OURS WE'RE GOING ON PARENT
REPORT NOT TESTING FOR AUDIOLOGY
BUT DOING SLEEP SCREENINGS AND
DO RECORD THE OTHER CO-OCCURRING
CONDITIONS AND 75% OF OUR KIDS
HAVE A HEARING IMPAIRMENT AND
SOMEWHAT VISUAL IMPAIRMENT AND
THAT'S WHAT WE LOOK AT IN TERMS
OF NOT EXCLUDING KIDS BUT THEN
TRACKING IT AND THEN
INCORPORATING THAT INTO OUR
ANALYTIC PLAN.
>> OKAY.
THANK YOU.
>> I'M FROM THE ALZHEIMER'S
WORLD AND ABC-DS WE CAPTURE BUT
DON'T GET ACTUAL TESTING DONE
AND THAT'S GOING TO BE
POTENTIALLY A BIG TOROCONTRIBUTO
OUR NEURO PSYCH MEASURES.
>> THANK YOU FOR THE PROGRESS
THAT'S BEEN CLEARLY BEING MADE
IN CLINICAL TRIALS AND I WANTED
TO THROW IN ANOTHER AREA I THINK
WE DO STILL NEED CLINICAL TRIAL
DEVELOPMENT IS ANOTHER AREA
WHERE PEOPLE WITH DOWN SYNDROME
ARE TRADITIONALLY EXCLUDE FROM
THE PHARMACEUTICAL WORLD AND
THAT'S IN AGE-RELATED BONE LOSS
AND WITH THIS AND WONDERING IF
THERE'S MEASUREMENT BY HRPPCT AB
IT'S A BIG ISSUE FOR THOSE OF US
THINK IN THIS FIELD IN THIS
ARENA AND WONDERING WHETHER
THEY'RE PEDIATRIC PATIENTS OR
ALZHEIMER'S GROUP IF THAT'S
SOMETHING CONSIDERED AND IF THE
ANSWER'S NO, THAT'S FINE, IT
JUST MEANS I JUST HAVE MORE
STUFF TO DO.
>> OR ABC-DS THE ANSWER IS KNOW
AND THE MEETING HAS BEEN
REVEALING AND THE OTHER ASPECT
OF THE AGING PROCESS IS LOOKING
AT SEX DIFFERENCES WITH WOMEN
GOING THROUGH MENOPAUSE SIX TO
SEVEN YEARS YOUNGER WITH DOWN
SYNDROME THAT WILL IMPACT BONE
LOSS.
I LOVE THAT YOU'RE POINTING THIS
OUT AND THAT'S A MESSAGE I'LL
TAKE BACK TO OUR TEAM.
THANK YOU.
>> THE ONLY GROUP WE LOOKED AT
IS PATIENTS WITH EPILEPSY.
>> THEY'RE BONE LOSS INDUCING IN
THE CONTEXT.
I JUST WANTED TO THROW IT OUT
THERE.
THANK YOU VERY MUCH.
>> WE HAVE TIME FOR ONE MORE
QUESTION.
I'LL BE PROVOCATIVE.
IN YOUR CLINICAL TRIALS YOU
FOUND DROP OUT DUE TO SIDE
EFFECT AND THE DOSES OF THE
MEDICATIONS YOU WERE TRIALING
WERE TOO HIGH.
JUST WONDERING WHETHER WE SHOULD
BE THINK ABOUT IN THE DOWN
SYNDROME AND THERAPEUTICS AND
START AT LOWER DOSES THAN THE
NANE-DOWN SYNDROME DIAGNOSIS.
>> YES.
AND THOUGH WE MADE OURS MORE
CONSERVATIVE WE HAD TO BE MORE
CONSERVATIVE THAN WE WERE BEING
INITIALLY.
AND THE MECHANISM IS NICE FOR
STARTING IT AND FIXING IT AND
DOING IT WELL.
>> ONE THING FOR US IS IT'S DOSE
DEPENDENT AND WE'LL TRITATE
UPWARDS AND WE'RE CAUGHT BECAUSE
WARE DOING A SHORT STUDY AND HAD
TO TITRATE FAIRLY QUICKLY AND
WONDERING IF THAT'S WHY SOME
SIDE EFFECTS WERE THERE AND
GETTING PEOPLE IN STUDIES IS
CHALLENGING AND GETTING KIDS
INVOLVED IN DRAWING BLOOD AND
THE ANSWER IS YES.
>> I'LL BE THE DISSENTING VOICE
AND SAY NO.
WITH OUR LORAZEPAM WE HAD TO USE
HIGHER DOSES AND WE SEE A
PARADOXICAL EFFECT CLINICALLY AT
LOWER DOSES OF BENZODIAZEPEINES
MAKES THEM WORSE AND TELL THEM
TO PUSH THROUGH FOR THE HIGHER
DOSE THAT IS BEN FIRM --
BENEFICIAL.
THERE'S DIFFERENT METABOLISMS.
>> AND WE STILL FIND OUT WHAT
HAPPENS TO THEM AFTERWARDS AND
THOSE WHO HAVE GONE BACK ON
MEDICATION.
IT'S MORE THE INITIAL GUT
REACTION AND TRY SOMETHING ELSE
AND THEY COME BACK TO THE SAME
DRUG.
THEY'RE NOT IN THE TRIAL BUT
THIS IS THE COMMUNITY THAT IS
HERE TO HELP EACH OTHER AND
HAVING THE CONNECTIONS AND
FOLLOWING UP.
>> ALL RIGHT, I THINK WE'LL HAVE
TO CALL THE SESSION.
THANK YOU ALL.
THIS WAS TERRIFIC.
WE'RE GOING TO BRING UP SESSION
8 AND MY COLLEAGUE WILL
INTRODUCE SESSION 8.
THANKS, EVERYONE.
>> I'M ERICA TARVER AND HAPPY TO
HAVE TWO AMAZING PRESENTERS.
I'M A LITTLE BIT BIASSED BECAUSE
I'M IN THE SESSION AND
DR. SANTORO YOU HEARD FROM
ALREADY AND DR. TONI.
I'LL TALKING ABOUT
CONSIDERATIONS TO PREPARE FOR
CLINICAL TRIALS.
FIRST UP IS DR. SANTORO.
ALL RIGHT.
SO THIS IS KIND OF TO GO OFF
WHAT WE WERE TALKING ABOUT IN
CLINICAL TRIALS.
HAVING THE TALKS BACK TO BACK IS
BENEFICIAL FOR US BUT I WANT TO
HIGHLIGHT OUR EXPERIENCE GOING
FROM THE CLINICAL END OF THINGS
WHICH IS WHERE MY DOMAIN IS AND
PARTNERING>
PARTNERING
PARTNERING WITH THIS INCLUDE IS
BEING ABLE TO PAIR UP BASIC
TRANSLATIONAL AND CLINICAL
SCIENCE ALL TOGETHER.
WITHOUT GOING INTO TOO MUCH
NAMERATION OF THE INCLUDE
INITIATIVE AND WHEN WE LACK AT
THE RESEARCH ON THE BASIC
SCIENCE END WE TALK ABOUT IS IS
THIS READY FOR PRIME TIME?
ARE WE READY TO TAKE THE BASIC
SCIENCE FINDINGS AND TRANSLATE
THEM TO CLINICAL TRIAL OR
EXPLORATORY BIOMARKER STUDY.
WHEN WE LOOK AT THIS, SHOULD IT
BE EXPLORATORY AND SHOULD WE USE
THE BASIC SCIENCE DATA IT TO
GENERATE DATA AND LOOK AT
IMAGING AND SAFETY LABS AND THIS
IS WHERE THE COMBINATION IS
PAIRING SCIENTISTS WITH
CLINICIANS AND IT COMES FROM AN
INFORMATION OF THE CLINICAL
ASPECTS OF THE DISEASE AND
MECHANISMS.
I'LL USE OUR CURRENT CLINICAL
TRIALS AND WE HAD A GROUP
PUBLISHING ON INTERFERON AND AS
A FRESH OUT OF FELLOWSHIP
NEUROLOGIST WE PUBLISHED ON A
DOWN SYNDROME DISINTEGRATION
DISORDER WHICH WE RENAMED THEN
AND IN THE MIDDLE OF THE
PANDEMIC SAID DO YOU THINK THAT
DOWN SYNDROME DEGREDATION
DISORDER IS INFLAMMATORY RELATED
AND HE SAID THIS IS JUAQUIN AND
I THINK WE SHOULD WORK TOGETHER.
AND I THOUGHT MAKING THE
PRESENTATION SLIDES THIS WAS THE
ONSET OF PAIRING BASIC SCIENCE
INFORMATION OF WHAT WAS GOING ON
IN DOWN SYNDROME OVER ALL AND
PAIRING THAT WITH WHAT THE
PHENOTYPE WE WERE JUST STARTING
TO SEE IN THE CLINIC WAS.
THERE WAS OBJECTIVE BIOMARKERS
OF INFLAMMATION IN THE
INDIVIDUALS.
WE APPLIED FOR AN R61, R33 PHASE
1 AND I APPLIED FOR THAT A DAY
AFTER MY DAUGHTER WAS BORN AND
SHE'S MY GRANT BABY AND WE'RE
HERE TALKING ABOUT RESEARCH
SUCCESS AND A GREAT
COLLABORATION OF A GROUP OF
SCIENTISTS AND CLINICIANS TO GET
THE PROJECT ROLLING.
AND YOU MAY SEE THE STAGE IS
WHAT IS THE P.I. OR P.I.s NEED
TO DEMONSTRATE IN THE TRIAL AND
WHAT STAGE OF INVESTMENT ARE WE
IN?
YOU'LL SEE SOME SLIDES ARE PHASE
I /II OR MOVING FORWARD TO SAY
WE KNOW IT'S SAFE AND THE DOSE
WE SHOULD BE USING AND LOOK AT
PLACEBO CONTROLLED PHASE STUDY.
WHAT ARE STANDARD OF CARE AND
WHAT ARE CLINICIANS IN THE
COMMUNITY DOING.
IT'S A CRITICAL UNDERSTANDING
FOR HOW WE DEVELOP THE CLINICAL
TRIAL IN THE BACK END.
AND I THINK THE SIGNING TESTS IN
THE ROOM KNOW BEING AND GET
PRODUCTS IN TO THE HANDS AND A
CLINICAL TRIAL THAT WILL PRODUCE
THE DESIRED RESULT IS IMPORTANT.
WE DON'T WANT TO TWEAK THINGS
TOO MUCH BUT GOES INTO STUDY
DESIGN GENERATION AND WHAT ARE
THE PATIENTS MOST LIKELY TO
PARTICIPATE IN?
ALL ALL STUDIES ARE CREATED
EQUALLY.
WE LIKE THE R61 PHASE BECAUSE WE
CAN TEASE OUT WHAT IS TOO MUCH
FOR FAMILIES AND TOO LITTLE.
WHEN WE GOOD THROUGH THINGS, THE
TRIAL DESIGN IS SOMEWHAT
TAILORED TO THE ACTUAL PHASE OF
THE STUDY YOU'RE DEVELOPING.
IS THIS SOMETHING WHERE WE NEED
TO BE RANDOMIZED OR
NON-RANDOMIZED, OPEN LABEL OR
SINGLE OR IN SOME CASES DOUBLE
BLIND?
DOES IT NEED TO BE PLACEBO
CONTROL VERSUS STANDARD OF CARE
OR IN MANY RARE NEUROLOGICAL
DISEASES, HISTORICAL CONTROL.
FOR THOSE WHO FOLLOW THE
THERAPIES IN ADRENO LEUKO D
DYSTROPHY COMPARED BECAUSE IT
WAS TOO HARD TO ENROLL PATIENTS
FOR IT.
IT'S A DUAL-ARM STUDY?
MULTI-ARM.
WILL WE FOCUS ON ONE OR THE
OTHER AND CROSSOVER DESIGNS.
I'VE CONCLUDED SOME EXAMPLES.
WE TALKED ABOUT BRIEFLY RUN-IN
DESIGNS WHERE INSTEAD OF HAVING
A DEDICATED PLACEBO ARM WHICH
SPOOKS FAMILIES AND PARTICIPATES
FROM JOINING IN A STUDY,
ALLOWING FOR A RUN IN WHERE YOU
GET RANDOMIZED TO A MEDICATION
AT THE END AS OFTEN A WAY TO
SELL PARTICIPATION TO FAMILIES
AND THIS SHOWS THE ABILITY AND
FLEXIBILITY OF AN R61, R33
MECHANISM WHERE IF WE'RE NOT
SURE WHAT MEDICINE MAY BE THE
BEST OR SAFEST, THE R33 PHASE
ALLOW THE ABILITY TO EXTRACT ONE
OF THE ARMS IF IT'S NOT WORKING
THERE'S SAFETY SIGNAL OR POOR
EFFICACY SIGNAL AS WELL.
AGAIN WHEN WE LOOK AT PROTOCOL
DEVELOPMENT WE HAVE TO FIND
SOMETHING MEANINGFUL TO
INDIVIDUALS AND MAKE SURE IT'S
WITHIN THE CONTEXT OF THE STUDY
DESIGN.
ONE INITIAL CONSIDERATION IS HOW
LONG DOES IT TAKE FOR
MEDICATIONS TO WORK?
FOR IGIG WE HAD DID DATA.
BY THERE'S MONTHS YOU SHOULD SEE
AN EFFECT BUT WIN OTHERS WE HAD
TO LOOK AT INDIVIDUALS.
PAIRING UP CALENDAR VISITS AND
LAB DRAWS AND MODIFYING THINGS
TO MAKE SURE IT'S NOT AN
ADDITIONAL BURDEN TO FAMILIES,
CAREGIVERS AND PARTICIPANTS AND
ALSO COLLECTING THE HIGHEST
QUALITY DATA.
I THINK THIS THE MOST IMPORTANT
SLIDES FOR PAIRING CLINICIANS,
SCIENTISTS AND BASIC SCIENTISTS.
WHILE THERE IS A LOT OF
ENTHUSIASM FOR STUDIES, A
CLINICIAN IS VERY DIFFERENT THAN
A SCIENTIST OR A PHYSICIAN
SCIENTIST AND SO FINDING TIME OR
THAT PERCENT FTE THE BASIC
SCIENTIST HAVE TO KAPE HEAR --
HEARING ABOUT IS IMPORTANT FOR
GETTING PHYSICIANS TO
PARTICIPATE OR AN A SCREEN ARE
OR SOMEONE DOING A NEURO LOGIC
EXAMINATION AND IS THIS FEASIBLE
AND TRANSLATABLE TO THE
POPULATION AND DO YOU HAVE THE
TIME AND WHAT DAYS DO YOU HAVE
TIME.
FOR INSTANCE, A .05 FTE FOR A
CLINICIAN MAY NOT BE ENOUGH FOR
THEM TO PARTICIPATE MEANINGFULLY
IN THE TRIAL AND HAVING THE
CONVERSATIONS EARLY IS TO THE
BETTERMENT OF THE CLINICAL
TRIAL.
THE OTHER PIECE OF THIS TOO AND
THIS IS SOMETHING AS A CLINICIAN
AND PHYSICIAN SCIENTIST I DON'T
THINK ABOUT THIS AS MUCH BUT OU
DO YOU MAKE SURE THESE CLINICAL
TRIALS BEING RUN ARE ACTUALLY
GETTING ADDITIONAL DATA WE CAN
USE TO GENERATE EITHER
ADDITIONAL CLINICAL TRIALS OR
SIDELINE BASIC SCIENCE
INVESTIGATIONS.
THIS IS ONE OF THE MORE EXCITING
THINGS IS PAIRING WITH
DR. ESPINOZA AN EXPERT IN THE
OMICS YOU KEEP HEARING ABOUT IN
THE CONFERENCE IS PAIRING THEM
WHILE WE'RE RUNNING A CLINICAL
TRIAL SO WE CAN USE THEM AT A
LATER TIME POINT TO EITHER WORK
TO HAVE BETTER INCLUSION,
EXCLUSION CRITERIA FOR CLINICAL
TRIAL, MAKE SURE THE
THERAPEUTICS ARE IVE AND GOING
TO THE PATIENTS THAT WOULD
BENEFIT.
THE OTHER PLUG I'LL ADD IS YOU
CAN ADD PSYCHOLOGICAL
ASSESSMENT, SURVEYS, QUALITY OF
LIFE, EXTRA IMAGING STUDY,
ANCILLARY TESTS.
THEY'RE EASY, NONINVASIVE IN
SOME SITUATIONS TO RUN BUT CAN
PROVIDE DATA FOR MONITORING IN
THE LONG TERM AS WELL.
WHILE WE TALK ABOUT DOWN
SYNDROME IN THE INCLUDE
INITIATIVE, THE REAL GOAL IS TO
GET TO PERSONALIZED MEDICINE.
WE HAVE THE ONE SIZE FITS ALL
BECAUSE THAT'S THE BEST DATA WE
HAVE AND ULTIMATELY WHEN WE LOOK
AT WHAT IS INCLUDE GOING TO LOOK
AT IN THE NEXT FIVE YEARS, THE
HOPE IS WE CAN BE SAYING, HAVE
YOU OSA AND DOWN SYNDROME
REGRESSION DISORDER.
THIS IS THE PREFERRED TREATMENT
FOR YOU.
WE HAVE A POSITIVE RATE OF 90%
OF S SHOULD BE RESPONDING TO
THIS THERAPY WITH YOUR
PARTICULAR PROFILE.
WE THINK WITH THE PATIENTS,
CAREGIVERS AND THE PARENTS.
THIS IS A CRITICALLY IMPORTANT
THING.
WE DON'T WANT TO ADD BURDEN BY
PARTICIPATING IN A CLINICAL
TRIAL.
WE NEED TO MAKE IT EASY AND
FINANCIALLY SOLVABLE AS WELL.
THE TIMING MATTER.
I TALKED ABOUT THIS WITH OUR
CLINICIANS NOT EVERYBODY CAN GET
ALL THE TESTS COORDINATED ON THE
SAME DAY.
WE SEE THIS WITH OTHER STUDIES
IF AN FMRI AND MRI PUNCTURE ARE
NEED TO BE DONE IN THE SAME DAY
THE MOON HAS TO BE ALIGNED AND
EVERYTHING SOUNDS BETTER ON
PAPER.
IN REALITY IT MAY BE DIFFERENT.
THOUGH WE'RE FIND THE LAB IS NOT
ALWAYS 100% OF THE TIME THE MOST
CONSISTENT PLACE WE REALIZE THIS
IN OUR REGRESSION TRIAL WHERE I
TALKED ABOUT SOME OF OUR
PATIENTS ARE DELUSIONAL,
PSYCHOTIC ANDAGE TATE WILLED --
AND AGITATED.
THE R61 MECHANISM IS IDEAL TO
GET THE KINKS OUT EARLY ON IN A
LIMITED NUMBER OF PATIENTS AND
MOVE FORWARD WITH THE MOST
OPTIMIZED PROTOCOL IN THE
FUTURE.
WITH THAT I'LL HAVE OUR NEXT
SPEAKER TRANSITION OVER BUT
THANK YOU AGAIN.
>> THANK YOU.
NEXT UP WE'LL HAVE DR. LAUREN
TOMI FOR THE TOP FIVE TIPS IN
DOWN SYNDROME RESEARCH AND
READINESS.
>> I GET TO THE BRIDGE OF
TALKING ABOUT THE CLINICAL
TRIALS TO LATER ABOUT TO GET IN
THE COMMUNITY ASPECT AND I'M
BRIDGING THAT AND HOW DO WE
PREPARE CLINICAL TRIALS MORE
FROM THE COMMUNITY ENGAGED END.
SO YOU WANT TO CONDUCT A
CLINICAL TRIAL.
WHAT ARE THINGS YOU NEED TO
THINK ABOUT BEFORE DIVING INTO
THIS.
FOR BACKGROUND I'VE BEEN
CONDUCTING CLINICAL TRIALS IN
INDIVIDUALS WITH DOWN SYNDROME
FOR ABOUT 13 YEARS.
I MOSTLY DO NON-PHARMACOLOGIC
INTERVENTIONS BASED ON
LIFESTYLE, DIET, NUTRITION AND
WE'VE BEEN BRIDGING INTO THE
PHARMACOLOGICAL SPACE IN THE
PAST FEW YEARS AND HOW DO WE
COMBINE THE MECHANISMS.
THE TOP FIVE TIPS.
BUILD YOUR COMMUNITY ADVISORY
BOARD.
WHAT IS A COMMUNITY ADVISORY
BOARD?
IN OUR MIND IT GUIDES EVERYTHING
WE DO.
WE BRING INDIVIDUALS AND
SELF-ADVOCATES WITH DOWN
SYNDROME IN AND CAREGIVERS AND
INDIVIDUALS WORKING IN OUR
COMMUNITY AND OUR COMMUNITY
ORGANIZATIONS LIKE OUR DOWN
SYNDROME GROUP AND BUILD A PANEL
AND BOARD WHO WE RELY ON
HEAVILY.
THEY'RE OUR PARTNERS IN
RESEARCH.
I THINK THIS PARTNERSHIP IS
REALLY IMPORTANT TO US BECAUSE
THEY GUIDE EVERYTHING WE DO.
EVEN WHEN WE COME UP WITH AN
IDEA FOR A GRANT OR AN IDEA TO
STUDY WE ASK WHAT DO YOU THINK
ABOUT THIS AND WE GET GOOD
FEEDBACK AND GET FEEDBACK LIKE
PROTOCOL AND TELL US WHAT YOU
THINK AND WHAT IS CRAZY ON HERE
WE'RE TRYING IT GET YOU TO DO
AND WHAT ARE WE NOT THINKING
ABOUT AND THEY HELP GUIDE IT.
BEING IN SOME OF THE BOARDS
RECENTLY WITH ACTC-DS AND ABC-DS
AND WE'VE ARE TRYING TO INCLUDE
WILL HAVE INDIVIDUALS OF COLOR
AND DIFFERENT AGES AND NOT THE
STANDARD STOCK IMAGES WE CAN
FIND.
I THINK THOSE ARE HELPFUL
GETTING THIS GOING.
BUILDING THE RELATIONSHIP AND
BUILDING TRUST WITH THE
COMMUNITY.
THIS PROBABLY SHOULD HAVE BEEN
NUMBER ONE BUT THIS IS THE MOST
IMPORTANT THING YOU CAN DO.
RECRUITMENT FOR CLINICAL TRIALS
IS ALMOST NEAR IMPOSSIBLE
WITHOUT TRUST.
YOU WANT TO GO IN AND WANT TO BE
EVERYONE'S PARTNER.
THEY WANT TO KNOW YOU HAVE THEIR
BEST INTEREST IN MIND.
WE SPEND A LOT OF TIME
DEVELOPING PARTNERSHIPS WITH OUR
LOCAL DOWN SYNDROME
ORGANIZATIONS AND CLINICS.
IT'S NOT PARTNERSHIP NOT HEY,
CAN YOU RECRUIT FOR ME BUT WE'RE
A PARTNER AND IN THIS TOGETHER
AND WORK ON THAT MAKING IT
MUTUALLY BENEFICIAL.
AND WE HAVE HAD OUR HEALTHY
ALLIANCE IN KANSAS CITY.
THIS IS A GROUP OF US FROM K.U.
MED AND INDIVIDUALS FROM SPECIAL
OLYMPICS AND OUR DOWN SYNDROME
INNOVATIONS GROUP THAT PARTNER
IT TOGETHER FOCUSSING ON HOW CAN
WE IMPROVE THE HEALTH AND WELL
BEING AND WE HOST EVENTS.
THIS IS ONE A COUPLE WEEKS AGO
FOR DOWN SYNDROME DAY AND WE
BROUGHT PEOPLE IN AND DID FUN
PHYSICAL ACTIVITY TOGETHER AND
ALSO HAD SELF-ADVOCATES TALK
ABOUT WHERE THEY ARE AND
STARTING THEIR OWN BUSINESSES
AND BEING MORE EMPOWERING.
THIS IS GOOD FOR FAMILIES OF
YOUNGER INDIVIDUALS WHO GET TO
COME IN AND HEAR ABOUT ALL THE
WONDERFUL THINGS THAT THEIR
CHILD WILL ONE DAY BE ABLE TO
DO.
WE DON'T TALK ABOUT RESEARCH.
WE'RE JUST THERE.
WE'RE A PARTNER IN THE COMMUNITY
AND WE BUILD THAT TRUST SO LATER
WHEN WE'RE LIKE, WE'RE ALSO
DOING THIS RESEARCH TRIAL,
THEY'RE LIKE OH, OKAY, WE TRUST
YOU.
WE BELIEVE YOU HAVE OUR BEST
INTEREST AT HEART.
WE'LL COME IN.
WE MAKE SURE TO ATTEND EVENTS
AND OUT HOSTING OUR OWN EVENTS.
I'LL SHOW A VIDEO FROM A FUN
EVENT FROM A COUPLE MONTHS AGO
AND THIS IS OUR COMMUNITY AND WE
WANT EVERYONE TO KNOW WE'RE A
PART OF THAT COMMUNITY.
WE CONSIDER SENDING OUT NEWS
LETTERS.
WE SEND OUT A NEWSLETTER TO OUR
RESEARCH REGISTRY WITH TIPS OF
WHAT'S GOING ON RIGHT NOW.
EVENTS THAT ARE HAPPENING AND
PUT RESEARCH INFO GRAPHICS AND
SOMEONE IN A TRIAL CAN SEE
RESULTS IN A WAY THEY
UNDERSTAND.
AND WE CAN LET THEM KNOW FUTURE
OPPORTUNITIES.
WE RELY ON OUR COMMUNITIES
ADVISORY BOARD TOO.
THEY HELP SPREAD THE WORD AND
MAKE SURE THAT WE'RE GETTING
INTO NEW AREAS.
ONE AREA WE REALIZED IS WE'RE
STRUGGLING TO GET IN THE UNDER
SERVED AREAS AND BRING IN PEOPLE
AND WE'RE IN KANSAS AND MOST
PEOPLE THINK OF FARMLAND AND
COWS AND HOW DO WE GET IN RURAL
POPULATIONS INVOLVED AND SERVE
HISPANIC POPULATION AND WE'RE
NOT ABLE TO RECRUIT THEM AND
THAT'S FUTURE DIRECTIONS WHERE
WE'RE TRYING TO GET NOW AND HOW
DO WE BUILD THE RIGHT
RELATIONSHIPS AND ESTABLISH THE
TRUST BEFORE STARTING
RECRUITMENT?
GETTING INTO INTERVENTION
DEVELOPMENT AND DELIVERY, YOU
WANT TO MAKE SURE YOU ADAPT OR
DEVELOP YOUR INTERVENTION
CONSIDERING THE NEEDS OF
INDIVIDUALS WITH DOWN SYNDROME.
ONE, CONSULT WITH YOUR COMMUNITY
ADVISORY BOARD.
I'LL GO BACK TO THAT EVERY
SLIDE.
THAT'S IMPORTANT AND WHAT DO
THEY WANT AND NEED AND WHAT'S
IMPORTANT TO THEM?
THIS IS A GOOD EXAMPLE.
A FEW YEARS AGO WE WANTED TO RUN
A TRIAL WHICH IS A WEIGHT LOSS
MEDICATION TO HELP DIABETES.
WE BROUGHT THEM IN AND SAID WHAT
WOULD YOU THINK OF DOING THIS
DRUG TRIAL?
WHAT WOULD YOU THINK OF DOING
THIS TO HELP WITH WEIGHT LOSS.
THE FAMILIES WERE LIKE, THAT'S
GREAT BUT WHAT WE'RE WORRIED
ABOUT IS LONG TERM MAINTENANCE
AND HEALTH.
WE CALL IT THE POTATO PEELER
STUDY BECAUSE PARENTS SAID
THAT'S WONDERFUL AND GLAD
THERE'S MEDICATIONS.
I WANT TO KNOW HOW TO TEACH MY
CHILD TO COOK HEALTHY FOODS IN
THE KITCHEN AND I'M TERRIFIED TO
THEM BE AROUND A POTATO PEELER
AND STOVE AND HOW CAN THEY LET
THEM LIVE INDEPENDENTLY AND
SCRAPPED THE IDEA AND DEVELOPED
THIS OTHER TRIAL TEACHING
HEALTHY COOKING SKILLS AND THIS
IS A PARTICIPANT MAKING HIS
ENERGY BALLS PART OF THE STUDY.
BUT OUR ADVISORY BOARD WAS
BASICALLY THAT'S A WONDERFUL
TRIAL BUT THIS IS WHAT WE WANT.
SO WE WENT THAT WAY.
YOU ALSO WANT TO CONSIDER THE
REETHD LEVEL OF YOUR AND MAKE IT
EASILY READABLE.
WE'LL BE PROVIDING WRITTEN
MATERIALS AS WELL AS VIDEO.
FOR PEOPLE WHO CAN'T READ AS
WELL HAVE A HARD TIME READING OR
HAVE DIFFERENT STYLES OF
LEARNING, WE'RE ACCOMMODATING
EVERYONE.
THIS TAKES TIME.
FOR EXAMPLE, WE'RE MAKING SOME
VIDEOS FOR OUR CLINICAL TRIAL WE
HAVE COMING UP HOPEFULLY
STARTING THIS FALL AND SPENT A
YEAR MAKING SCRIPTS AND MAKING
DEVELOPMENT AND WORKING WITH OUR
DEVELOPMENT PANEL AND MAKE SURE
THEY'RE REPRESENTATIVE OF OUR
POPULATION AND LOOK AT TRAVEL.
IT'S HARD.
IT'S HARD ON PARENTS AND
CAREGIVERS.
THEY DON'T WANT TO COME IN A
MEDICAL CENTER MULTIPLE TIMES A
YEAR BUT NOT IF YOU'RE LIKE,
HEY, WE NEED TO YOU COME IN
THREE DAYS IN A ROW OR HAVE TO
HAVE YOU ONCE A MONTH.
THAT REQUIRES SOMEONE TO TAKE
TIME OFF WORK IF YOU HAVE A JOB
AND MOST INDIVIDUALS EN OUR
COMMUNITY ARE PROUD OF THEIR
JOBS AN DON'T WANT TO TAKE TIME
AWAY.
YOU WANT TO MAKE SURE YOU'RE
MAKING IT FOR THE PARENTS THEY
CAN EASILY GET AWAY AND THEY CAN
AFFORD TO.
SOMETIMES COMING INTO A MEDICAL
CENTER OR MEDICAL FACILITY THAT
TAKES THEM REQUIRING A WHOLE DAY
OFF WORK AND PAY AND HOW CAN YOU
ACCOMMODATE THAT AND ALLOW
PEOPLE TO COME IN ON WEEKENDS
AND WEEKDAYS AND PILOT THE
INTERVENTION.
YOU MAY THINK YOU HAVE A GREAT
IDEA AND THE R61s ARE DOING THIS
BUT SOMETIMES WHEN PUT INTO
PRACTICE YOU REALIZE OH, IT
WASN'T THAT GREAT OF AN IDEA OR
WHAT WE NEED TO CHANGE.
AS MUCH AS YOU CAN, PILOT,
PILOT, PILOT.
SOMETIMES WE DO PILOTS FOR OUR
PILOTS BUT IT HELPS ONCE YOUR
READY TO DEPLOY THE FINAL
PRODUCT IN A RANDOMIZED CONTROL
SETTING YOU KNOW IT'S READY TO
GO AND YOU'LL HAVE HIGH
ATTENTION AND ADHERENCE AND
TREENGS.
-- RETENTION.
TEST OUT OUR SUBSTANCE PROTOCOL
WITH INDIVIDUALS AND FIND OUT
WHAT'S FEASIBLE.
WE FOUND WE WANTED TO DO AGING
TRIAL AND WERE GOING DO PET
SCANS AND EVERYONE WAS LIKE
WHOA, WHOA, WHOA.
I DON'T THINK I WANT IT DO THAT.
IT'S LIKE, WELL, CAN WE GET
SIMILAR INFORMATION NOT DOING
THAT?
SO TALKING WITH THEM AND FINDING
OUT WHAT THEY DID AND DID NOT
WANT TO DO FOR THIS PARTICULAR
STUDY.
MAKE SURE YOU'RE STUDY TEAM IS
FAMILIAR IN CONDUCTING
ASSESSMENTS IN INDIVIDUALS WITH
DOWN SYNDROME.
WE ARE LUCKY ENOUGH TO HAVE
RETENTION BECAUSE WE HAVE THE
MOST INCREDIBLE TEAM WHO KNOWS
HOW TO MAKE SOMEONE FEEL WELCOME
AND APPRECIATED AND EXCITED AND
THEY'RE PART OF THE SCIENCE AND
THAT'S NOT SOMETHING EVERYONE
CAN DO.
THAT'S GOOD WHEN WE'RE HIRING
SOMETIMES IT'S NOT JUST ABOUT
BACKGROUND AND EDUCATION BUT
ABOUT PERSONALITY.
YOU CAN SEE IT WILL BE A GOOD
FIT AND MAKE IT EXCITING.
AND WE TALKED ABOUT IT'S HARD TO
FIND VALID ASSESSMENTS AND
SOMETIMES YOU HAVE TO DO YOUR
OWN VALIDATION PROCESS BUT BAD
SCIENCE IN IS BAD SCIENCE OUT.
IT'S HARD.
IF YOUR GOING TO SPEND MONEY
COLLECTING DATA YOU WANT TO
COLLECT DATA WE KNOW IS
ACCURATE.
ONE OTHER THING THAT'S HELPFUL
IS DEVELOPING SOCIAL STORIES
THAT CLEARLY SHOW WHAT
ASSESSMENTS WILL OCCUR OR WHAT
WILL HAPPEN WHEN SOMEONE'S
ENROLLED AND MAKE THEM
REPRESENTATIVE OF YOUR TARGET
POPULATION.
SOCIAL STORIES CAN BE AS LITTLE
OR AS MUCH AS YOU WANT.
THIS IS AN EXAMPLE OF ONE OF THE
ONES WE HAVE.
WE GAVE OUT A POWER POINT OF
WHAT WOULD HAPPEN WHEN SOMEONE
COMES IN THE LAB AND WHAT IT
WOULD LOOK LIKE AND EVERY
PROCESS THAT WOULD HAPPEN IN
BETWEEN.
AND I THINK THAT MAKES IT FOR
SOMEONE WITH A LOT OF ANXIETY OR
WORRIED ABOUT IT THEY'LL KNOW
THERE'S VIDEOS GOING ON RIGHT
NOW TOO WHERE YOU CAN MAKE A
WHOLE VIDEO AND FOLLOW SOMEONE
AND YOU KNOW EXACTLY WHAT'S
EXPECTED, WHAT YOU'LL SEE AND
MINIMIZES SOME OF THE FEAR YOU
MIGHT HAVE.
BUDGETS FOR RECRUITMENT.
I CANNOT OVERSTATE THIS ENOUGH.
THEY'LL SAY OUR CLINIC WILL FIND
PEOPLE AND NO, RECRUITMENT IS
HARD.
NEVER UNDERESTIMATE RECRUITMENT
NEEDS AND BUDGETING MONEY FOR
RECRUITMENT EVENTS AND PERSONNEL
AND MAKING SURE YOU HAVE
CONVENIENT PARTNERSHIPS,
COMMUNITY ADVISORY BOARDS.
I DIDN'T MENTION THIS EARLIER
BUT THOSE COMMUNITY ADVISORY
BOARDS YOU WANT TO PAY THEM.
THEY'RE PART OF YOUR STUDY AND
INTEGRAL THEY DESERVE TO GET
PAID FOR THEIR TIME AND THAT'S
SOMETHING TO CONSIDER WHEN DOING
THIS.
THIS WAS AN ICE CREAM SOCIAL
WITH OUR NEW ABATE TRIAL AND WE
HAD A LOCAL ICE CREAM GROUP THAT
ONLY EMPLOYEES INDIVIDUALS WITH
INTELLECTUAL DISABILITIES AND WE
HAD ICE CREAM AND THEN HAD A
DANCE PARTY.
THIS IS A FUN VIDEO OF EVERYONE
GETTING DOWN LITERALLY.
IT'S FUN AND I'M SAD IT'S NOT
GOING TO PLAY BUT WE HOSTED IT
IN OUR RESEARCH PHASE.
PEOPLE GOT FAMILIAR AND THEY
SAID IF I DO A STUDY AGAIN THIS
IS WHERE I'LL GO AND BE FAMILIAR
WITH THE ROOM AND MADE IT SO
YOU'RE REDUCING SOME ANXIETY.
I ALSO WANT TO PUT IN HONORABLE
MENTIONS.
IRB APPROVALS AND CONSENT
DOCUMENTS.
I WAS IN THE AGING AND
ALZHEIMER'S GROUP AND THIS CAME
UP A LOT YESTERDAY IN OUR
BREAKOUT SESSION.
CONSENT AND AASSENT -- ASSENT
DOCUMENTS MAY NOT BE PROPERLY
SET UP WITH DOWN SYNDROME AND
SOME INDIVIDUALS CAN ASSENT FOR
THEMSELVES AND CAN DECIDE IF
THEY WANT TO BE IN A STUDY OR
NOT AND READING LEVELS ARE
DIFFERENT AND CHECK YOUR STATE
LAWS.
IN DIFFERENT STATES THERE'S
DIFFERENT RULES ABOUT ASSENT.
AND SURROGATE DECISION MAKERS.
IT'S GOOD TO KNOW WHEN YOU'RE
COMING IN.
WE TALK ABOUT MAYBE HAVING
TEMPLATE LANGUAGE AND DIFFERENT
THINGS ALL INDIVIDUALS CAN START
TO PUT INTO IRBs.
SUBJECT PAYMENTS AND INCENTIVES.
CONSIDER WHAT PARTICIPANTS WANT.
FOR A LONG TIME WE WOULD PAY
PEOPLE MONEY AND TALKED TO
PARTICIPANTS.
THEY DIDN'T CARE AS MUCH AS
ABOUT THE MONEY.
THEY WANTED SWAG AND T-SHIRTS
AND FUN STUFF AND I ACTUALLY WE
MADE A BUNCH OF FUN T-SHIRTS FOR
OUR UPCOMING CLINICAL TRIALS.
IT'S A DIET TRIAL AND SO WE HAVE
FRUITS AND VEGETABLES ALL
WEARING SUPER HERO CAPES AND
OTHER THINGS.
THAT'S WHAT THEY WANTED.
THE OTHER THING PAID CAREGIVERS.
YOU HAVE PARENTS AND CAREGIVERS
PROBABLY BRINGING IN PEOPLE WHO
ARE DOING EIGHT OF THE WORK.
PAY THEM FOR THEIR WORK.
THEY'RE JUST IMPORTANT TO THE
RESEARCH STUDY.
AND MAKE SURE YOU PAY FOR TRAVEL
REIMBURSEMENT ESPECIALLY IF YOU
HAVE PEOPLE WHO WANT IT FLY IN
OR COME IN FROM FAR AWAY TO JOIN
YOUR TRIAL.
ALSO MAKE SURE YOU DON'T PAY
THEM TOO MUCH.
INDIVIDUALS WHO MAKE TOO MUCH
MAY BE AT RISK OF LOSING THEIR
SSI AND OTHER THINGS SO YOU
DON'T WANT TO GO OVER THE TAX
LIMIT AND FOR US IT'S $800 A
YEAR AND WE SPACE OUT PAYMENT
AND CONSIDER WHAT WILL STILL
BENEFIT THEM IN THE BEST WAY.
DATA SAFETY MONITORING BOARD.
MOST HAVE TO HAVE A DATA SAFETY
MONITORING BOARD AND INCLUDE
INDIVIDUALS WITH BACKGROUND AND
DOWN SYNDROME AND UNDERSTAND
WHAT DIFFERENT SAFETY FEATURES
MAY BE AND DEPENDING ON WHAT YOU
ARE AN EXPERT IN THAT FIELD NOT
IN DOWN SYNDROME AND COMPARE THE
TWO.
I THINK IT'S GOOD TO BRING IN
EVERYONE WHEN MAKING THE BOARDS.
I WANT TO THANK MY LAB WHO IS
REALLY SOLVING WHAT MAKES
CLINICAL TRIALS POSSIBLE AT K.U.
AND OUR RESEARCH PARTICIPANTS.
WE WANT TO TURN IT OVER TO YOU
GUYS TOO AND HEAR WHAT YOU THINK
WE NEED TO BE DOING IN THE
FUTURE.
>> THANK YOU.
WE WELCOME QUESTIONS FROM THE
AUDIENCES.
>> IT'S GREAT TO SEE CLINICAL
TRIALS AND MOU IT CAN TRANSITION
TO OUR HOMES.
I HAVE TWO SUGGESTIONS MAKE.
HAVE YOU THOUGHT ABOUT
CONDUCTING WITH THE DOWN
SYNDROME CLINICS ACROSS THE
UNITED STATES TO SHARE YOUR
RESULTS OR TALK WITH THEM?
OR EVEN RECRUIT PEOPLE?
THAT'S ONE.
THE OTHER ONE DO YOU TALK TO THE
CAREGIVERS' PHYSICIANS?
I THINK THAT'S THE MISSING PIECE
IN THE LONG RUN.
I KNOW IT'S NOT THE BASIC
RESEARCH BUT FROM CLINICAL
TRIALS WE NEED TO GO TO THOSE
PHYSICIANS AND THERE'S A GROUP
CALLED THE DOWN SYNDROME MEDICAL
INTEREST GROUP AND THAT'S THE
PLACE WHERE MANY OF US GO TO
WHEN WE HAVE A PROBLEM.
THEY TALK TO OUR PHYSICIAN AND
THEY NEED YOU AND WE NEED THEM.
>> THAT'S AN EXCELLENT POINT.
FOR THE DOWN SYNDROME MEDICAL
INTEREST GROUP THEY ALMOST
FUNCTION AS A NEUROLOGIST IT'S
OUR THALAMUS THE TRAIN WAY
STATION TO CONNECT RESEARCHERS
AND CLINICIANS ACROSS THE
COUNTRY SO SERVES AN EXCELLENT
PURPOSE FROM THAT STANDPOINT.
I THINK AS A PHYSICIAN SCIENTIST
I'M CONNECTED CLINICALLY WITH
OTHER CLINICS IN OUR REGION AND
AREA.
AND THEN THE RESEARCHERS OFTEN
WILL GO BACK AND FORTH AND SAY,
HEY, WE'RE ADVERTISING THIS
STUDY OR DO YOU HAVE SOMETHING
THAT THAT WE CAN CONTRIBUTE
WITH.
I THINK THAT'S ALSO THE JOY OF
BEING IN THE ROOM WITH EVERYONE
THAT THIS IS WHERE THOSE IDEAS
CAN ACCELERATE.
WHEN WE DO, FOR INSTANCE,
ADVOCACY EDUCATION, WEBINARS ON
SOMETHING LIKE REGRESSION,
THERE'S THE EDUCATION COMPONENT.
WE WANT TO EDUCATE FAMILIES AND
WANT PEOPLE TO KNOW THERE ARE
TRIALS AND A LOT OF THE TIME
WHEN WE GET QUERIES, IT'S MORE
TO SAY, I LIVE IN VIRGINIA, DO
YOU KNOW NEARBY THAT CAN SEE ME
BECAUSE WE KNOW NOT EVERYONE CAN
GO TO COLORADO OR CALIFORNIA AND
WE FUNCTION THAT ON THE RESEARCH
END BUT THERE'S DIFFERENT WAYS
WE'RE INTERCONNECTED.
>> I KNOW A LOT OF US ARE
KEEPING CONNECTED.
WE WORK WITH THE CLINICIAN AND
HAVE A GREAT DOWN SYNDROME
CLINIC AT K.U. HOSPITAL WITH
MOYA PETERSON AND WE ALWAYS GO
TO HER FIRST TO SEE IF SHE WANTS
TO BE INVOLVED.
SHE USUALLY DIDN'T HAVE TIME BUT
KEEP HER ALIGNED AND PROTECTIVE
OF HER PARTICIPANTS TOO AND HAVE
THE ABILITY TO SHARE RESULT BACK
AND THAT'S PART OF OUR CONSENT
LANGUAGE IF WE NEED TO SHARE A
FINDING WITH A CLINICIAN WE WILL
AND LET THEM HAVE A REPORT AT
THE END.
ONE OTHER THING THAT IS
IMPORTANT THERE TOO IS WE A LOT
OF TIMES GET WE GET A PHYSICIAN
RELEASE BEFORE THEY JOIN A
CLINICAL TRIAL SO THE PHYSICIAN
KNOWS THEY'RE IN THE STUDY AND
THERE'S WAYS TO CONTINUE TO
INCLUDE PHYSICIAN.
IT'S IMPORTANT TO BRING THEM IN
THE RESEARCH AND KEEPING THEM
APPRISED OF THE RESEARCH.
>> TO ME THIS IS ONE OF THE MOST
EXCITING PART IS THE
PARTICIPATION INCLUDE AND BASIC
SCIENCE AN ONE THING WE NLTOTIC
IN THE PAST IS THEY CREATE
STRUCTURED DATA SETS THAT ARE
WELL COORDINATE.
AND OFTEN TIMES THAT PERIOD OF
TIME WHERE A PARTICIPANT IS IN
IS BRACKETED A PERIOD OF TIME
BEFORE THEY WEREN'T INVOLVED AND
AFTER IT CONCLUDES.
HOW DO YOU THINK BE THE
FRAMEWORKS OF A CONTINUUM OF
DATA FROM BEFORE AND ESPECIALLY
I THINK IN MANY CONTEXTS THE
LONG-TERM FOLLOW-UP CONTEXT FOR
COORDINATION AROUND THAT.
WHERE YOU LEVERAGE DRUGS ALREADY
APPROVED WHAT ENDS UP HAPPENING
EVEN WITH PROMISING RESULT
OFF-LABEL USE OF THE DRUGS CAN
BECOME PART OF THE COMMUNITY
FRAMEWORK.
WHAT MAY BE WAYS YOU GUYS ARE
THINK IT WILL ABOUT
COORDINATING, COLLECTING THAT
DATA.
HOW DO YOU WORK WITHIN A NETWORK
OF AN ENGAGED COMMUNITY AND
OFF-LABEL USE OF DRUGS PART OF A
STRUCTURED TRIAL?
>> SO I THINK A GREAT EXAMPLE
FOR YOUR FIRST QUESTION SO OUR
ORIGINAL CRITERIA FOR OUR DSRD
TRIAL INCLUDES MRI, EEG, LUMBAR
PUNCTURE DATA THOUGH IT'S NOT
PART OF THE TRIAL IT'S DATA WE
AN CAN SAY THIS PATIENT RESPONDS
ASO WE'RE TAKING PART OF THAT
AND LOOKING AT SUPPLEMENTATION
FOR EXTENSION TO FOLLOW PATIENT.
WHAT WE OBSERVED IS AGAIN MANY
PATIENTS RESPOND TO TREATMENT
BUT MAY ADD ON AN ADDITIONAL
THERAPY AND WE ALSO WANT TO
CAPTURE THAT RESPONSE
LONGITUDINALLY THOUGH IT'S MAYBE
LESS SCIENTIFICALLY CONTROLLED
AND THERE'S HUGE VALUE IN THE
LONGITUDINAL ASPECT.
AND THE SECOND QUESTION I
FORGOT.
OH, DRUG REPURPOSING.
WE'VE BEEN CONSCIOUS FOR IBIG IS
COSTLY.
SO WHEN WE PUBLISH THE STUDIES
THE ACTUAL RETROSPECTIVE DATA
WE'RE USING AND MULTIPLE CENTERS
IS TO SEND THAT TO THE INSURANCE
COMPANY AND GET THE APPROVAL.
WE HAVE A CLINICAL DOCUMENT WE
SENT TO OTHER SITES AS AN APPEAL
LETTER.
FOR PATIENTS WHO WANT TO
CONTINUE IBIG IN THE CLINICAL
TRIAL WE'LL E-MAIL THAT WITH THE
DOCUMENTATION SHOWING THE
IMPROVEMENTS OFFER TIME TO COME
PREPARED WITH A PACKET THEY CAN
THEN SUBMIT OR SUBMIT ON THEIR
BEHALF TOO.
THE RETROSPECTIVE DATA IS
CHALLENGING BECAUSE THERE HAS TO
BE SYNERGY FOR WHAT DATA POINTS
ARE COLLECTING ON THAT END.
I FIND THE MORE SIMPLIFIED YOU
CAN DO IT THE MORE STRICTLY
CLINICAL SITES CAN DO THAT.
>> AND MAYBE A RECOMMENDATION, I
THINK YOU MENTIONED THE AMAZING
JUAQUIN ESPINOZA, FOR EXAMPLE, I
WAS THINKING AND WHAT'S GREAT
ABOUT THE DOWN SYNDROME
COMMUNITY SO MANY PARTICIPANTS
ARE PART OF AN OBSERVATION AL
PROTOCOL AND AUGMENTING OTHER
DATA AND THEN THEY'LL BE IN THE
HB PROTOCOL LONGER TERM AND HAVE
THE MULTI-PROTOCOL FRAMEWORK TO
CREATE LIKE AN UNPRECEDENTED
LONGITUDINAL CONTEXT FOR
PATIENTS THAT I THINK IS ONE OF
THE MOST DIFFERENTIATING
COMPONENTS OF INCLUDE.
>> THAT'S THE EXACT PAIRING WE
HAVE OF THE STUDIES THEY CAN BE
TRACKED LONGITUDINALLY.
JUST BE CAREFUL, IF YOU SAY
JUAQUIN'S NAME THREE TIMES HE
MAY APPEAR OR DISAPPEAR.
>> AND THE PRE AND POST PHASE
THERE'S OTHER LIKE WHERE YOU
ENROLL PEOPLE WHO MAY WANT TO BE
IN A CLINICAL TRIAL IN THE
FUTURE AND YOU'RE GATHERING THE
PRE-DATA, THEY DO THE CLINICAL
TRIAL AND THEN GO BACK TO THIS
COHORT AND YOU CAN FOLLOW LONG
TERM AND NOW WE'RE ABLE TO TRACK
IF THEY DO OTHER TRIALS AND HOW
ONE MAY AFFECT ANOTHER.
AS WE CONTINUE TO BUILD OUT THE
INFRASTRUCTURE IT WILL BE
IMPORTANT GOING FORWARD AND
MAKING SURE WE'RE ABLE TO HAVE
THE PRE AND POST
CHARACTERIZATION OF OUR
PARTICIPANTS GOING THROUGH THAT.
>> MY NAME IS ELIANA AND WORK IN
ONE OF THE MOST CITIES WHICH IS
HOUSTON.
WE CONDUCTED A COUPLE BEHAVIORAL
TRIALS AND I WAS VERY SURPRISED
AND WANT TO HEAR ABOUT YOUR
SURPRISES BY THE FEEDBACK WHICH
NOT NECESSARILY DIRECTED BY OUR
QUESTIONNAIRES OR DOCUMENTS FOR
THE SKILLS WE'RE INTERESTED IN
BUT CAPTURE SOMETHING THAT CAN
BE SOLICITED PRIMARILY IN
QUALITATIVE WORK OR NEEDS DESIGN
WORK.
SOME SAYING THERE'S PEOPLE WHO
ARE APPARENTLY GRATEFUL THOR THE
SERVICES SO TO SPEAK AND THEN
BRING UP MIXED EMOTIONS AND
FEELINGS AND CULTURAL BIASES ALL
THE THINGS WE DON'T TYPICALLY
CAPTURE IN SURVEYS AND ANY
SURPRISE AND HOW DO YOU
ENCOMPASS THE DIVERSITY WHEN
GROUPS REACT WITH PERHAPS A
GRAIN OF SALT TO OUR REGIMENTS
AND SUGGESTIONS AND SO FORTH.
>> THANK YOU.
>> I THINK THAT'S A GREAT
QUESTION TOO.
THERE'S KIND OF THE DIFFERENCE
BETWEEN COMMUNITY NEEDS,
COMMUNITY WANTS AND SCIENTIFIC
RIGOR AND IT'S TRYING TO FIGURE
OUT HOW DO YOU COMBINE ALL OF
THAT TOGETHER AND IT CAN BE
REALLY HARD AND KNOWING SOMETIME
PEOPLE WANT TO CHANGE OR
DIFFERENT THINGS IT AFFECT THE
SCIENTIFIC INTEGRITY AND RIGOR
AND FIND WHAT YOU CAN ADAPT AND
CHANGE WHILE KEEPING WITH THE
SCIENTIFIC RIGOR.
I DON'T KNOW IF THERE'S ONE GOOD
WAY OR NOT EXCEPT FOR WE ARE
CONTINUOUSLY TALKING WITH OUR
FAMILIES AND TALKING WITH
ADVOCATES AND TRYING TO FIGURE
OUT HOW WE CAN CONTINUE TO ADAPT
OUR PROGRAMS TO FIT EVERYONE'S
NEEDS.
I THINK WE ALL KNOW RIGHT NOW
THERE IS NO ONE SIZE FITS ALL
OPTION AN THERE'S A LOT OF WORK
THAT NEEDS TO BE DONE.
I THINK DOING THE FOCUS WORKS
AND STRUCTURED INTERVIEWS AND
EXIST INTERVIEWS OF SOMEONE WHO
DIDN'T LIKE A TRAIL IS REALLY
NEEDED.
I THINK MAKING IT MORE COMMON TO
EVEN PUBLIC THAT DATA AND GET
THAT OUT THERE SO OTHER PEOPLE
CAN HEAR AND LEARN.
I KNOW SOMETIMES QUALITATIVE
DATA CAN BE HARDER TO PUBLISH IN
A MEANINGFUL WAY.
CONTINUING TO FIGURE OUT HOW WE
CAN SHARE THAT INFORMATION IS
REALLY IMPORTANT.
>> SO THIS QUESTION WAS KIND OF
PROMPTED BY THE PRIOR SESSION
BUT IS RELEVANT TO THIS ONE I
THINK WHICH HAS TO DO WITH WHEN
DOES THE FDA THINK YOU'RE READY
FOR A TRAIL.
AND SPECIFICALLY I THINK IT WAS
MENTIONED THAT THERE WOULD BE A
CLINICAL TRIAL OF AN ASO WITH
INTERFECAL DELIVERY OF ABB TO
APP.
I'M AWARE MY INSTITUTION DOES A
LOT OF GENE THERAPY AND AWARE OF
THOSE PROTOCOLS HAVE BEEN
APPLIED TO OTHER DISEASES BUT
DIDN'T KNOW WHETHER THE WAY IT
WORKS IS THE FDA WOULD SAY,
WELL, THIS GENERAL PROCESS IS
OKAY SO NOW YOU CAN TARGET A
DIFFERENT GENE OR HOW DOES THAT
WORK?
>> IT'S A GREAT QUESTION FOR
DR. RAFII BIT THINK FOR
REPURPOSING DRUGS APPROVED FOR
OTHER INDICATION THE BAR IS
LOWER.
YOU REACH OUT TO THE FDA AS PART
OF THE TRIAL PROCESS BUT AGAIN
IN SPECIAL POPULATIONS OF WHICH
DOWN SYNDROME IS ONE, THAT SIGN
OFF AND DESIRE TO GO TO PHASE II
FIRST BEFORE PHASE III THOUGH
THE BAR MAY NOT BE SET IN OTHER
CONDITIONS IS PRETTY TYPICAL.
FOR ASA PLATFORMS IT'S BASED ON
THE GENE TARGET.
>> AND ALSO, DOES THE FDA MORE
LIKELY APPROVE A TRIAL IF YOU
HAVE SOMETHING LIKE REGRESSION
WHICH IS SO SEVERE, TREAT BEING
A CHILD THAT IS GOING OKAY WOULD
BE WHOLE DIFFERENT LEVEL.
>> AND I THINK IT COMES FROM
MULTIPLE DIFFERENT ANGLES.
FOR A CONDITION EVEN IF EASE
EMERGING IT'S MORE DIFFICULT TO
GET THAT ACROSS.
WE'RE MOVING TO A PHASE IN DOWN
SYNDROME AND OUTSIDE OF THAT
WHERE WE'RE GOING TO BE DOING
PREVENTATIVE PHARMACOLOGIC
STUDIES.
I THINK THERE'S MORE NORMATIVE
DESIRE FOR THAT AND LOOKING AT
THE AD SPACE IN GENERAL OUTSIDE
OF DOWN SYNDROME ALL THE TRIALS
ARE TRYING TO PREVENTION
DEMENTIA HAVE HAPPENING EVEN IF
THEY'RE SYMPTOMATIC ALREADY.
>> SHOW OFF THAT DESIGN.
IT'S FOR OUR SELF-ADVOCATES.
>> I WANTED TO EMPHASIZE WHICH
IS THE NOTION WE NEED TO DO LONG
-TERM FOLLOW UP FOR EVERYONE WHO
GRADUATE FROM THE CLINICAL
TRIAL.
S.
NEVER BEFORE IN THE HISTORY OF
HUMAN KIND HAVE THERE BEEN THIS
MANY CLINICAL TRIALS FOR PEOPLE
WITH DOWN SYNDROME.
AND IF YOU LOOK AT THE TRIALS
THAT WERE PRESENTED TODAY, MANY
OF THEM ARE MEDICINES THAT ARE
APPROVED FOR OTHER INDICATIONS
AND MANY PARTICIPANTS IF THEY
BENEFIT WILL REMAIN IN AN
OFF-LABEL PRESCRIPTION.
FOLLOWING UP PEOPLE WHO A TRIAL
AND PHARMA AND GENERAL
POPULATION IS NOT A VERY AND
FUNDING MECHANISM FOR YOU RIGHT
NOW.
SOMETHING FOR TO US THINK ABOUT
HOW WE'LL FOLLOW UP ALL THE
INDIVIDUALS UPON GARAGE BASE.
THAT'S ONE THING.
-- GRADUATION.
THE OTHER THING IS TO EMPHASIZE
IS ABOUT COMMUNITY ENGAGEMENT
AND I CALLED YOU JOHN BECAUSE OF
A MOMENT THAT TOLD ME ABOUT YOUR
WORK AND THIS PERSON WAS A
PATIENT OF YOURS.
EVEN FROM THE GENESIS OF THE I'D
ANDTAKE TAME TO TALK TO AND FDA
APPROVAL FROM PHASE III WILL
TAKE A WHILE WE HOPE TO GET
THERE SOON.
THERE'S SOMETHING GOOD SHORT OF
THAT WHICH IS A VERY GOOD PAPER
WITH RIGOROUS DATA THAT HELPS
OUR PHYSICIAN FRIENDS DO THE
OFF-LABEL PRESCRIPTION OR CHOOSE
BETWEEN MORE THAN ONE OPTION.
THAT WAS INTRINSIC FOR THE
TRIAL.
WHAT DATA DO YOU THINK PUTS THE
QUESTION TO PUT THAT TO REST?
WE NEED RIGOROUS DATA AND NIH
SPONSORED CLINICAL TRIAL THAT
CARRIES A LOT OF WEIGHT SO WE
WON'T HAVE APPROVAL BECAUSE WE
DON'T HAVE THE NUMBERS OR ME
PLACEBO CONTROL ARM BUT HAVE A
GOOD DATA SET THEY'LL BE
COMFORTABLE USING THE MEDICAL
INSURANCE IN OTHER PATIENT FOR
THAT PRESCRIPTION.
I WANT TO THANK YOU FOR
HIGHLIGHTING A LOT OF THE
IMPORTANT POINTS.
>> WHEN WE LOOK AT PUTTING ON
THE PHYSICIAN HAT AND SAY I NEED
TO TRY SOMETHING THAT'S NOVEL,
EXPERIMENTAL AND NEW, THE DATA
BECOMES CRITICALLY IMPORTANT.
WHILE WE'RE RUNNING PHASE II
DATA DO WE NEED TO PUBLISH
SOMETHING ADDITIONAL TO HELP
SUPPLEMENT THAT IN THE INTERIM.
THAT'S BEEN A GAME CHANGER.
AND LOOKING FROM YOUR FIRST
POINT TO THE LONG-TERM FOLLOW UP
WHAT WE HAVE THROUGH THE INCLUDE
INITIATIVE IS DEVELOPING THE
FRAMEWORK FOR WHAT WE SAW WITH
THE FRAMINGHAM HEART STUDY.
FOLLOWING INDIVIDUALS ACROSS A
LONG PERIOD OF TIME TO SEE WHAT
THE DIFFERENTIATING FACTORS WERE
FOR CARDIO VASCULAR RISK AND
STROKE RISK SEEING WHICH ARE
HAVING CLUSTERS OF CONDITIONS
AND WHILE THERE'S NOT A
MECHANISM RIGHT NOW IT'S
SOMETHING TO START BECAUSE THE
OPPORTUNITY IS THERE AND WE'RE
ALL COLLECTING DATA IN
SYNERGISTIC WAYS AND THROUGH
PROJECTS LIKE HTP WE MAY BE ABLE
TO MOVE THAT AT A FASTER RATE
THAN WHAT WE'VE SEEN IN OTHER
DISEASES.
>> I KNOW INCLUDE IS BUILDING
OUT THE DS4C TO BUILD A COHORT
ACROSS THE LIFE SPAN AND WE'LL
BE ABLE TO TRACK WHEN THEY JOIN
CLINICAL TRIALS.
THAT'S MY PLUG FOR INCLUDE RIGHT
THERE.
THAT'S SOMETHING THAT IS GREAT
THIS GROUP IS WORKING ON AND WE
CAN ALL CONTINUE TO TRY TO
CONTRIBUTE TO.
>> I THINK WE HAVE TIME FOR ONE
MORE QUESTION.
>> THANK YOU FOR YOUR REALLY
GOOD ADVICE ABOUT CLINICAL
RESEARCH AND CLINICAL TRIALS.
I WANT TO ASK SOME THINGS MAYBE
NOT RELATED WITH YOUR SPECIFIC
FIELD BUT FACE SOMETHING WE HAVE
TO DO OUTSIDE OF NORTH AMERICA
IN BOLIVIA AND FROM THE
UNIVERSITY AN SOMETIMES WHEN WE
HAVE TO FACE BIOETHICS WE HAVE
TO FACE THE LACK OF KNOWLEDGE OF
OUR SYSTEM INCLUDING PEOPLE AND
NEED TO SOMETIMES IF WE INVITE
THEM TO PARTICIPATE IN THIS
EMPOWERING OF KNOWLEDGE, THEY
CAN BE CONSIDERING WE'RE TRYING
TO INDUCE THEIR RESEARCH THAT IS
UNDERSTANDING THE INDUSTRY OR
THE RESEARCHERS CAN TAKE WANT IT
TAKE ADVANTAGE ABOUT THE
PATIENTS AND WE HAVE TO COMBAT
THE WAY TO DO BECAUSE HERE YOU
HAVE THE RULES AND METHODS AND
PROTOCOLS BUT OUTSIDE IN MY
COUNTRY WE HAVE TO FACE ALL THE
TIME WITH THAT THIS IS WHAT A
WANT TO HEAR ABOUT YOUR
EXPERIENCE.
THANK YOU.
>> SO WHILE THERE MAY BE BARRIER
OUTSIDE THE UNITED STATES, WE'VE
ENCOUNTERED SOME WITHIN THE
UNITED STATES.
WITH OUR FIRST IRB PROTOCOLS, WE
FOUND THERE WAS PATERNALISM
HAPPENING.
THE IRB WOULD SAY WE WOULD NOT
ALLOW X, Y, Z TYPE OF INITIATION
OR INTERVENTION FOR AN
INDIVIDUAL WITH DOWN SYNDROME.
I ASKED THE IRB TO GIVE ME ALL
OF THEIR STUDIES, I LOOKED
THROUGH THEM ONE BY ONE AND
FOUND ONE DOING THE SAME THING
AS US WE WERE PROPOSING AND
SAYING WHY IS IT OKAY IN THIS
PATIENT POPULATION AND NOT OKAY
IN PERSONS WITH DOWN SYNDROME?
THERE'S THAT ASPECT TO MAKE SURE
THE INDIVIDUALS MAKING THE
DECISION UNDERSTAND THAT THEY'RE
NOT MAKING THE SAME DECISION
ACROSS THE BOARD EVEN THOUGH
THERE MAY BE AN ABSENCE OF RISK
FACTORS FOR THAT.
THE SECOND PIECE IS WE'VE
INVITED THE IRB TO COME, THEY
NEVER HAVE, BUT HAVE SENT VIDEOS
OF PATIENTS AND FOR DOWN
SYNDROME REGRESSION DISORDER
MOST HAVE NOT HEARD OF IT.
WE SENT VIDEOS OF PEOPLE WITH
THEIR PERMISSION SHOWING HOW
DEBILITATING IT IS AND HAS BEEN
INFLUENTIAL IN GETTING OUR
PROTOCOLS APPROVED.
>> SO WE HAVE TO BREAK FOR
LUNCH.
WE WERE ABLE TO MAKE UP OR TIME.
AS A NOTE THERE WILL BE LUNCH
BREAKOUT AND I'LL TURN IT OVER
TO LAURIE BUT BEFORE WE DO WE
WANT TO THANK JONATHAN AND
LAURIE FOR THEIR WONDERFUL
PRESENTATIONS.
AND SO THIS CONCLUDES OUR VERY
EXCELLENT MORNING SESSION.
THANK YOU TO ALL THE SPEAKERS
AND ALL THE PARTICIPANTS.
WE DO HAVE INFORMAL BREAKOUTS
AND A CLINI BREAKOUT
IN ROOM C1 AND C2 AND COHORT
DEVELOPMENT BREAKOUT F1, F2,
GRAB YOUR LUNCH AND NETWORK WITH
COLLEAGUES IN THIS AREA AND
WE'LL SEE YOU BACK AT 1:00.
GOOD AFTERNOON.
LET'S START THE NEXT SESSION.
WE HAVE SOME TECHNICAL ISSUES SO
FOR THE SPEAKERS, YOU HAVE TO
SAY NEXT SLIDE TO LET THEM
CONTROL.
WE LOST CONTROL HERE
UNFORTUNATELY TODAY.
THIS SESSION IS ABOUT DATA
SHARING AND DATA ACCESS.
FROM THE MORNING SESSION WE
HEARD WE START TO COLLECT A LOT
OF DATA FROM CLINICAL TRIALS AND
IN THE FUTURE MORE DATA COMING
FROM THE COHORT DEVELOPMENT
PROGRAM.
WE HAVE THIS TOPIC RIGHT IN
TIME.
WE HAVE THREE SPEAKERS TODAY.
OUR FIRST SPEAKER IS MS. VALLEY
COTTON.
MY COLLEAGUE FROM NICHD.
VALE
VALERIE'S DEPUTY CHIEF OF THE
OFFICE OF DATA SCIENCES AND DATA
SHARING.
>> I'M FROM THE EUNICE KENNEDY
SHRIVER AND I'VE BEEN
CONTRIBUTING TO DATA STRATEGIES
THROUGH THE INCEPTION.
THE WHOLE MEET BEING HAS ALREADY
BEEN ABOUT DATA SHARING SO I'M
NOT GOING TO TELL YOU MUCH MORE
NEW EXCEPT FIVE AND SIX YEARS
AGO WHEN THE PROGRAM STARTED IT
WAS NOT THE NORM.
RESEARCHERS WERE NOT REALLY THAT
READY TO SHARE THEIR DATA.
I HAVE TO SAY I WAS INSPIRED BY
LISTENING TO DAVID EGGAN AND
THIS IS THE SLIDE I USED TO USE
AND SHARING EMPOWERING NEW
SCIENTIFIC QUESTIONS AND
INNOVATION, FOSTERING
TRANSPARENCY AND VALIDATION OF
RESEARCH RESULTS, INCREASING
STATISTICAL POWER BY COMBINING
MULTIPLE DATA SETS AND EXPEDITED
DEVELOPMENT IN THERAPEUTIC AND
DIAGNOSTIC STRATEGIES FOR
PATIENTS.
AND CAN LEAD TO DISCOVERIES
LEADING TO ENRICHING THE LIVES
OF PEOPLE WITH DOWN SYNDROME.
WE HAVE ALWAYS TAKEN DATA
SHARING SERIOUSLY BEFORE THE NIH
FINAL POLICY FOR DATA MANAGEMENT
SHARING WENT INTO EFFECT LAST
YEAR.
THAT POLICY NOW REQUIRES ALL
RESEARCHERS TOE -- TO BROAD AND
RAPID DATA SHARING THROUGH DATA
REPOSITORIES.
HERE'S AN OVERVIEW OF THE POLICY
DON'T HAVE TIME TO DO A FULL
CRASH COURSE ON THE DATA
MANAGEMENT POLICY.
I WANTED TO SHARE HIGH LEVEL
TIPS AND REMINDERS ABOUT THE
POLICY.
SO FIRST OFF, REMEMBER THAT GOOD
DATA MANAGEMENT AND SHARING IS
CRITICAL TO GOOD RESEARCH.
IN FACT, DATA MANAGEMENT SHARING
IS INHERENT TO RESEARCH.
SOMETIMES WE HERE THIS IS AN
ADMINISTRATIVE REQUIREMENT.
IT HAS NOTHING TO DO WITH MY
RESEARCH AND THAT'S NOT TRUE.
THE GOAL OF DATA SHARING IS TO
SUPPORT THE GOAL WE TALKED ABOUT
TO ACCELERATE SCIENTIFIC
PROGRESS.
YOUR DATA MANAGEMENT SHARING
PLAN SHOULD SUPPORT THAT GOAL.
YOU SHOULD SEE IF YOU'RE AN
NIH-FUNDED RESEARCHER THERE'S
WAYS TO ORGANIZE THE SHARING
PLAN.
REGARDLESS OF THE STRUCTURE MAKE
SURE YOU'RE CLEAR IN WHAT YOU'RE
TRYING TO DO.
NOT JUST FOR NIH BUT FOUR AS
RESEARCHER TO UNDERSTAND HOW TO
IMPLEMENT YOUR PLAN.
THE PLANS ARE MADE TO BE PUBLIC.
EVERYBODY IN THE ROOM COULD READ
THE DATA MANAGEMENT SHARING PLAN
AND KNOW WHAT'S COMING AND MAKE
SURE WHICH DATA YOU'RE
GENERATING AND SHARING.
WHEN YOU'LL SHARE THE DATA AND
AS SOON AS POSSIBLE BUT NO LATER
THAN PUBLICATION OR END OF THE
WARD.
WHERE YOU'LL SHARE YOUR DATA AND
THAT'S ESSENTIALLY WHICH DATA
REPOSITORIES ARE YOU USING AND
HOW AND INCLUDING THINGS LIKE
WILL THE DATA BE OPEN ACCESS OR
CONTROLLED BY THE DATA
REPOSITORY.
REFERRED TO THE DATA MANAGEMENT
SHARING MATERIALS WHEN YOU'RE IN
DOUBT, WHEN HAVE YOU A STICKY
ISSUE YOU'RE NOT SURE HOW TO
WORK THROUGH, YOU PROBABLY HAVE
GUIDANCE.
IT'S A LITTLE BIT OVERWHELMING.
WE HAVE A NOTICE THAT EXPLAINS
HOW TO THINK THROUGH PRIVACY
CONSIDERATIONS.
WE HAVE A GUIDE NOTICE THAT
TALKS ABOUT SHARING DATA FROM A
TRIBAL COMMUNITY.
AND MAYBE YOU'RE NOT CLEAR ON
WHAT WE MEANT BY DATA SHARING OR
SCIENTIFIC DATA.
WE HAVE DEFINITIONS FOR THOSE
THINGS IN THE POLICY MATERIALS.
FINALLY, THE PRIMARY EXPECTATION
IS RESEARCHERS MAXIMIZE THE
APPROPRIATE SHARING OF
SCIENTIFIC DATA.
IF THERE'S SOME REASON WHY YOU
CAN'T SHARE ALL THE DATA YOU
HAVE TO EXPLAIN WHY.
THE WHOLE PURPOSE OF THE PLAN IS
TO SHARE ALL YOU'RE SCIENTIFIC
DATA UNLESS YOU HAVE A REASON
NOT TO.
WE CALL THESE JUSTIFIABLE
LIMITATIONS IN THE POLICY
FRAMEWORK.
WHAT'S BEAUTIFUL ABOUT THIS
APPROACH IS IT GIVES NIH THE
OPPORTUNITY TO WORK WITH YOU.
AND TO MAKE SURE THAT THESE
ISSUES ARE REAL OPPOSED TO A
PERCEIVED BARRIER AND IF THERE'S
A SOLUTION TO YOUR CONCERN.
IN OUR EXAMPLE WE WORK WITH THE
DATA REPOSITORY.
THE DATA REPOSITORY HAS STANDARD
APPROACHES FOR DEIDENTIFICATION
AND CONTROLLED ACCESS APPROACH
AND MAYBE IT ADDRESSES SOME OF
YOUR CONCERNS.
ONE THEME OF THE PANEL WAS
SUPPOSED TO BE INTERNATIONAL
DATA SHARING.
I WANT TO SAY NIH DOES NOT THINK
ABOUT NATIONAL DATA SHARING FROM
WAYS WE THINK ABOUT THE ENTIRE
POLICY.
YOU'RE EXPECTED TO MAXIMIZE THE
SHARING OF YOUR SCIENTIFIC DATA
REGARDLESS OF WHERE IT'S COMING
FROM.
ALL NIH RECIPIENTS ARE
RESPONSIBLE FOR NAVIGATING NIH
POLICIES WITHIN THEIR LOCAL
REQUIREMENTS AND POLICIES.
SO THAT GOES THE SAME FOR DATA
SHARING AND IF THERE IS A LAW OR
REASON WHY YOU CAN'T SHARE THE
DATA OR SUBSET OF THE DATA,
WRITE THAT IN YOUR DATA
MANAGEMENT AND SHARING PLAN FOR
NIH TO REVIEW AND WORK THROUGH
TOGETHER.
THE DEFINITION OF DATA
REPOSITORIES BECAUSE SHARING TO
MAKE DATA AVAILABLE TO THE BROAD
RESEARCH COMMUNITY OR PUBLIC SO
SHARING DATA JUST FROM YOUR
LOCAL INSTITUTIONAL SERVER NO
LONGER MEETS THE DEFINITION OF
DATA SHARING.
IN PART THIS IS WHY SEVERAL
YEARS AGO WE CHARGED THE INCLUDE
DATA COORDINATING CENTER AS THE
PRIMARY REPOSITORY FOR COHORT
DATA AND FOR INTEGRATING WITH
THE LARGER NIH ECO SYSTEM AND
TALK ABOUT WHAT THAT MEANS IN A
MINUTE.
AND DATA REPOSITORIES BUILD
COMMUNITIES AND FOSI FOR
COLLABORATION AND TRAINING AND
GET TO INNOVATE AND DESIGN
SPECIFIC SERVICES AND FEATURES
THAT ADDRESS THE NEEDS OF THEIR
STAKEHOLDER AND THE RESEARCHERS
AND PARTICIPANTS AND BROADER
PUBLIC AND USE COMMON FORMATS OR
OTHER STANDARDS AND USING THOSE
TO IMPROVE SEARCH, VISUALIZATION
AND COMBINED ANALYSIS AND
FACILITATE PLANNING AHEAD.
AND LEARNING WHAT THE PROCESS
FOR DATA SUBMISSION AND THEY'RE
CONTINUOUS AND IMPROVING OVER
TIME.
THEY ACHIEVED ALL OF THESE AND
BUILT COMMUNITY THROUGH THEIR
ONLINE AND IN PERSON TRAINING
EVENTS AND THROUGH MEETINGS LIKE
THIS.
WE KNOW VATED TOGETHER TO DESIGN
A MULTI-TIERED DATA ACCESS
APPROACH FOR THE INCLUDE DATA
HUB AND ACCESSED TIER WHERE
ANYONE CAN ACCESS AS LONG AS
THEY AGREE TO TERMS AND
CONDITIONS AND CONTROLLED ACCESS
APPROACH WHERE ONLY APPROVED
RESEARCHERS CAN AC IS THES --
ACCESS THE DATA AFTER THE
GENOMIC DATA.
AND IS BALANCES THE NEED FOR
ACCESS OF DATA TO THE BROAD
PUBLIC TO FAMILIES AND ADVOCATES
AND RESEARCHERS AND THAT NED FOR
TRANSPARENCY TO THE PUBLIC WITH
THE NEED TO PROTECT PRIVACY.
YOU SAW YESTERDAY THE PORTAL
ENABLES VISUALIZATIONS AND THE
INCLUDE DCC HAS STANDARD
SUBMISSION PROCESS FOR HELPING
RESEARCHERS GET THEIR DATA
SHARED.
INCLUDE DOES NOT LIVE IN A
VACUUM.
RESEARCHERS MUST BE ABLE TO
INTEGRATE FROM MULTIPLE
REPOSITORIES TO ANSWER IMPORTANT
SCIENTIFIC QUESTIONS AND FOR
INCLUDE IT'S EXTRA CRITICAL
BECAUSE THERE'S A WIDE VARIETY
OF CONDITIONS THAT IMPACT
INDIVIDUALS WITH DOWN SYNDROME.
WE ALWAYS HAD IN MIND
RESEARCHERS NEED TO INCLUDE IT
TO ADDRESS QUESTIONS ABOUT
GENETIC VARIANTS THAT UNDERPIN
GENETIC DISEASE AND PREDICT
DEMENTIA IN WILL HAVES WITH DOWN
SYNDROME AND STUDY THE
CONNECTION BETWEEN AUTISM AND
DOWN SYNDROME.
WE'RE ACHIEVING THIS THROUGH
INTEGRATION WITH A CLOUD
ANALYSIS PLATFORM.
THE INCLUDE DATA HUB INCLUDES A
CONNECTION TO THEY'RE CALLED
CLOUD ANALYSIS PLATFORMS.
SOME PEOPLE ARE STARTING TO CALL
THEM WORK SPACES AND THAT'S WHAT
YOU HEARD A LITTLE BIT ABOUT.
WE'RE USING APPLICATION
INTEGRATION INTERFACES TO ENABLE
THE EXCHANGE OF DATA ACROSS
SYSTEMS.
WHAT THIS IS DOING FOR INCLUDE
NOW A RESEARCHER CAN EASILY
CO-ANALYZE INCLUDE DATA WITH
KIDS FIRST DATA.
AS OF A WEEK AGO IT CAN
INTEGRATE WITH THE READ ARCHIVE.
WE'VE UNLOCKED MORE DATA THAT
CAN EASILY FLOW INTO THE
ANALYSIS ENVIRONMENTS FOR LARGE
SCALE CLOUD-BASED ANALYSIS.
AFTER THE CLINICAL TRIAL AND
ANOTHER STUDY DID OMICS.
THIS IS ABOUT LETTING
RESEARCHERS HAVE SOME AWARENESS
OF WHEN PARTICIPANTS ARE TE SAME
AND THIS IS A CHALLENGE BECAUSE
THE INCLUDE DATA UP AND OTHER
DATA REPOSITORIES ONLY SHARE
DEIDENTIFIED DATA.
WE HAVE TO THINK OF SOME RECORD
LINKAGE SOLUTION THAT DIDN'T
EXPOSE PERSONAL INFORMATION.
ON THE NIH SIDE WE SAID, OKAY,
WE CAN THINK OF DOING THIS BUT
HOW WILL WE NAVIGATE ALL THESE
RISKS AND CORROBORATE THE
INTERSECTION OF POLICIES THAT
COME WITH EACH INDIVIDUAL DATA
SET.
TOGETHER THE DCC AND INCLUDE
STEERING COMMITTEE AND WE WORKED
THROUGH A CHECKLIST OF DATA
GOVERNANCE CONSIDERATIONS AND
TECHNICAL CONSIDERATIONS TO SORT
THROUGH HOW WE WERE GOING TO
SOLVE ALL THESE CONCERNS.
AND AFTER WORKING THROUGH THAT
CHECKLIST, WE ARE HAPPY TO SAY
AND I PROMISE YOU I ONLY HAVE
TWO APPROVALS LEFT TO GET THIS
LIVE.
WE'LL SOON BE IMPLEMENTING THE
GLOBAL UNIQUE IDENTIFIERS IN THE
INCLUDE DATA HUB.
AND THIS TOOK A COUPLE YEARS TO
IMPLEMENT BECAUSE THERE IS A LOT
OF TO THINK THROUGH.
I WANT TO HIGHLIGHT A FEW KEY
PARTS OF THIS STRATEGY.
THE NDA TOOL IS AN NIH-OWNED AND
POLICY PRESERVING RECORD LINKAGE
TECHNOLOGY ALREADY USED BY FORGE
DATA REPOSITORY MAY ALREADY USE
AND ALREADY USED BY MANY OF OUR
INCLUDE RESEARCHERS.
IT ENABLES RESEARCHERS TO LINK
DATA FROM MULTIPLE DATA SETS TO
THE SAME INDIVIDUAL WITHOUT
REVIEWING PII.
DATA WILL ONLY BE SHARED THROUGH
A CONTROLLED ACCESS.
THEY'RE SENSITIVE ENOUGH TO HAVE
THE DATA USE AGREEMENT WE TALKED
ABOUT AND DATA SUBMITTERS WILL
BE RESPONSIBLE FOR WHETHER
DETERMINING IF THEY'RE
APPROPRIATE.
WE WON'T REQUIRE THEM FROM
EVERYONE.
WE NEED TO MAKE SURE THE DATA
SUBMITTER DOES EVERYTHING WE
NEED.
DO THEY NEED TO GO TO THE IRB
AND HAVE DISCUSSION WHAT THIS
MEANS AND WE'LL BE PUBLISHING
CONSENT LANGUAGE INCORPORATED
INTO CONSENT FORMENTZ FORMS TO
ESTABLISH HOW GU GUIDs WILL BE
USED AND THERE'S A LOT WE
PROBABLY CAN'T TALK ABOUT TODAY
BUT IN UPCOMING INCLUDE WEBINARS
WE CAN ANSWER QUESTIONS ON THIS.
THIS IS JUST SOME QR CODES WITH
RESOURCES THAT I TALKED ABOUT.
>> THANKS, VALERIE.
VALERIE SHARED WITH US THE DATA
SHARING ON NIH SO NEXT WE MOVE
ON TO DATA CONTRIBUTORS
PERSPECTIVE OUR NEXT SPEAKER IS
FROM EMORY UNIVERSITY AND THE
HER TALK IS IMPROVING
COLLABORATION PLANNING FOR
EFFECTIVE DATA SHARING.
>> MY SLIDES HAVE FAIRLY SIMPLE
THIS MORNING.
I WANT TO THANK THE ORGANIZERS
AND NIH FOR INVITING ME PRESENT
AND HOPE THEY'LL HELP FACILITATE
SOME DISCUSSION LATER.
I'LL TELL YOU SOME OF THE
HURDLES WE'VE GONE THROUGH IN
BEING ABLE TO SHARE OUR DATA BUT
I'M INTERESTED TO HEAR FROM YOU
ALL THINGS YOU'VE DEAL WITH.
IMPROVING COLLABORATION AND
PLANNING FOR EFFECTIVE DATA
SHARING.
WE TALKED ABOUT THE IMPORTANCE
OF DATA SHARING.
IT'S CRUCIAL TO ADVANCE
RESEARCH.
IT CERTAINLY MAKES OUR
PARTICIPANTS' CONTRIBUTIONS MORE
VALUABLE.
WE'RE ABLE TO USE THAT DATA
ACROSS MULTIPLE STUDIES TO
ANSWER DIFFERENT QUESTIONS AND
CAN BE A COST EFFECTIVE MEASURE
TO INCREASE SAMPLE SIZES.
IF OTHERS ARE USING THE SAME
MEASURES YOU'RE USING INSTEAD OF
STRONG REACH OUT AND RECRUIT A
WHOLE SET OF PARTICIPANTS YOU
COULD POSSIBLY USE THAT DATA.
THEY STARTED DOWN SYNDROME
RESEARCH IN THE LATE 1980s AND
I'VE BEEN DOING RESEARCH THERE
ALMOST 20 YEARS.
SOME OF THE THINGS WE HAD TO
OVERCOME AS FAR AS THE HURDLES
TO BE ABLE TO SHARE DATA YOU
GUYS WON'T HAVE TO DO NOW.
SOME ARE STILL IMPORTANT FOR TO
YOU CONSIDER BEFORE YOU START
DEVELOPING YOUR SHARING PLAN AND
CERTAINLY BEFORE YOU START
WRITING THE CONSENT FORMS YOUR
PARTICIPANTS ARE GOING TO SIGN.
THINKING HOW TO THE DATA WILL BE
STORED.
WILL YOU KEEP EVERYTHING IN
HOUSE?
WILL YOU SEND ALL THE DATA TO A
DATA REPOSITORY, A BIO BANK
SOMEWHERE?
WHO WILL ULTIMATELY HAVE ACCESS
TO THE DATA AND WHO WILL MAKE
DECISIONS ABOUT WHO HAS ACCESS
FOR THE DATA AND THEN FUTURE
PLANS FOR THE DATA.
TO TALK A LITTLE BIT ABOUT
CONSENT AND WE HEARD GREAT
COMMENTS ABOUT THINGS HOW TO
MAKE CONSENT AVAILABLE TO OUR
PARTICIPANTS, I JUST WANT TO
THINK ABOUT SOME THINGS RELATED
TO DATA SHARING YOU MIGHT WANT
TO MAKE SURE HAVE YOU IN THE
CONSENT FORMS.
CODED VERSUS DE-IDENTIFIED.
I'M GOING TO TALK A LITTLE BIT
MORE ABOUT THAT ON THE NEXT
SLIDE, AGAIN, MENTIONING THE
LENGTH OF TIME STORED.
MAY THINK YOU'RE ONLY GOING TO
NEED THIS DATA FOR FIVE YEARS.
IF YOU PUT THAT INTO THE CONSENT
FORM YOU'RE GOING TO USE THE
DATA FOR FIVE YEARS AND THEN
THERE'S DELAYS IN RECRUITMENT OR
SOMETHING HAPPENS, AND THEN YOUR
FIVE YEARS ARE UP, THEN YOU'RE
FORCED TO MAKE RECONTACT ALL
YOUR PARTICIPANTS AND SAY, HEY,
CAN I KEEP THIS DATA LONGER OR
HAVE TO DESTROY THE DATA BECAUSE
THAT'S WHAT YOU PUT INTO THE
ORIGINAL CONSENT.
WE HAD A COLLABORATOR THAT HAD
THAT CLAUS IN THEIR CONSENT FORM
AND IT WAS AN URGENT RECONTACT
PARTICIPANT TO USE THIS DATA IN
RESEARCH.
BROAD SHARING WITH RESEARCHERS
AND DATABASES.
DON'T LIMIT TO ANY CERTAIN
DATABASE OR A CERTAIN
RESEARCHER.
ALWAYS HAVE THEM KNOW YOU'LL
ALWAYS DO FUTURE RECONTACT.
A LITTLE BIT ABOUT DECODE VERSUS
DEIDENTIFIED.
WE'RE CAN CODE THE DATA SO
COLLABORATORS STILL HAVE A LINK
AND WE COULD GO BACK AND
SOMETIMES IT'S A GOOD THING AND
YOU MAY WANT TO CONSIDER HOW TO
APPROACH THAT WITH YOUR DATA.
SOMETHING MIGHT SHOW UP LATER IN
THE WHOLE GENOME SEQUENCING OR
SOMETHING ELSE AND YOU'RE LIKE
DO THESE KIDDOS THAT HAVE
CONGENITAL HEART DISEASE HAVE
MORE GI FEATURES?
LET ME SEE IF THEY DID.
IF YOU DON'T KEEP THE LINK THEN
IT PRESENTS A PROBLEM TO GO BACK
LATER.
THAT DOESN'T MEAN THAT YOUR IN
ANY TYPE OF WAY REDUCING THE
PRIVATE PROTECTIONS IT'S JUST
HOW YOU PRESENT THAT DURING YOUR
CONTENT PROCESS AND TALKING HOW
YOU'LL SHARE THE DATA.
A FEW THINGS TO STAY AWAY FROM
IS CHECK BOXES.
YOU CAN RECONTACT ME, I'LL CHECK
THAT BOX.
WE HAD A COLLABORATOR THAT THEY
HAD EIGHT CHECK BOXES.
TRYING TO KEEP UP WITH THAT IS A
NIGHTMARE.
WE ALSO HAD PAPER FORMS.
SO WHEN IT CAME TIME TO TALK
ABOUT SHARING DATA WITH THE
DATABASE THEY GO BACK AND PULL
ALL THE PAPER FORMS AND LOOK AT
ALL OF THOSE CHECK BOXES TO SEE
WHETHER THEY CAN SHARE SAMPLES,
COULD THEY DATA WITH TIS THIS
PERSON OR THAT PERSON.
THINK OF HAVING A NICE BLANKET
STATEMENT YOU'RE GOING SHARE
DATA, MOST OF OUR FAMILIES ARE
VERY WILLING TO SHARE THEIR
DATA.
THEY'RE IN THIS FOR THE BETTER
GOOD OF SOCIETY AND OTHER
FAMILIES.
IF YOU'RE IRB PUSHES BACK,
PUSHBACK AGAINST THEM AND SAY
WHY DO I NEED THESE LIMITATIONS.
I DON'T NEED TO.
NO NAME DATABASES.
YOU MAY BE WORKING WELL WITH
DR. SMITH AND KNOW YOU'LL SHARE
DATA AND GREAT TO PUT IN THERE
BUT DON'T LIMIT TO DR. SMITH.
SAY WE MAY BE COLLABORATING WITH
OTHER RESEARCHERS IN THE FUTURE
AND YOU DON'T KNOW WHO THEY ARE
NOW AN DON'T WANT TO GO THROUGH
THAT RECONTACT.
WE THANKFULLY DID PUT OTHER
REGULATED AND OTHER DATABASES
AND WERE A LITTLE BIT COVERED
BUT DON'T LIMIT YOURSELF.
YOU COULD NAME EXAMPLES BUT
DON'T MAKE THOSE THE ONLY ONES.
WE KNOW WITH OUR POPULATIONS
SOMETIMES THEY WANT IT LIMITED
TO THE STUDY OF DOWN SYNDROME
AND THAT'S OKAY BUT DOESN'T MEAN
YOU HAVE TO LIMIT TO DOWN
SYNDROME AND IN A REPLACEMENTS.
YOU CAN LIMIT TO DOWN SYNDROME
AND MEDICAL PROBLEMS ASSOCIATED
WITH IT OR MAYBE TRYING TO
UNDERSTAND WHY IT OCCURS AND
MAKE IT BROAD BUT SPECIFIC.
IT'S GREAT TO PUT IN THERE YOU
MAY BE RECONTACTED FOR A FUTURE
STUDY TO BE REACHED OUT BY
DR. ROSSER BUT IF THEY GET HIT
BY A BUS YOU HAVE TO EXPLAIN WHY
DR. ROSSER CAN NO LONGER BE THE
PERSON REACHING OUT.
TRY TO THINK THROUGH THE
SCENARIOS OF MAKING IT VERY
BROAD.
AND I'LL SAY WE'VE BEEN DOING
THIS FOR OVER 20 YEARS.
WHEN WE STARTED OUR CONSENT
FORMS WERE A PAGE MAYBE TWO.
WHOLE GENOME SEQUENCING WAS NOT
CONSIDERED AT THAT POINT.
THERE WAS NO LANGUAGE IN THAT.
WHEN WE GOT READY TO START
SHARING OUR DATA, WE HAD TO HAVE
CURRENT CONVERSATIONS AND WHAT
IS THE CONSENT.
DID THEY MEAN TO SHARE THE DATA
WHEN WHOLE GENOME SEQUENCING WAS
NOT DISCUSSED.
IT TOOK A YEAR TO GET ALL OF OUR
CONSENT FORMS APPROVED AND WE
HAD TO SUPPLY AND OURS ALONE WAS
LIKE SEVEN DIFFERENT STUDY.
THEY WANTED TO SEE EVERY VERSION
OF THE CONSENT FORM.
AND THINKING THROUGH WHAT YOU'RE
PUTTING INTO YOUR CONSENT FORMS
CAN HELP YOU OUT IN THE LONG
RUN.
AND THE NIH HAS SOME EXCELLENT
LANGUAGE ON THEIR WEBSITE TO
HELP YOU WITH THE SHARING AND
THEY HAVE LANGUAGE THEY WANT YOU
TO PUT IN THERE.
OFTEN YOU CAN PUSH BACK A LITTLE
BIT AND ASK WHY THERE'S CERTAIN
LANGUAGE IN THE CONSENT FORM
THAT MAY NOT CONFORM TO WHAT
THEY WANT YOU TO HAVE.
IF YOU'RE THINKING OF REVISING
OR REVAMPING TO DO THIS AND THEY
SAID WE DO WANT YOU TO RECONSENT
BEFORE WE LET YOU SHARE THE
DATA.
WE SPENT ABOUT EIGHT MONTHS
RECONTACTING FAMILIES AND THEN
HAD TO SHOW OUR RATE OF
RECONTACT.
HOW MANY WE WERE ABLE TO FIND
AND HOW MANY CONSENTED,
ETCETERA.
IT'S DIFFICULT TO FIND FAMILIES
ESPECIALLY IF YOU HAVEN'T HAD
CONTACT WITH THEM IN SEVERAL
YEARS BUT OUR RATES OF YES, I'M
SIGNING THIS AND YET I WANT IT
SHARE MY DATA ARE SO HIGH EVEN
OUR RECONTACT RATE WAS LOW THEY
DID ACCEPT THE FACT MOST WOULD
BE IN AGREEMENT AND GAVE US
WAIVERS TO BE ABLE TO SHARE THE
DATA.
AS I MENTIONED, BEING BROAD AND
SPECIFIC DOES NOT MEAN YOU'RE
PREVENTING DATA ACCESS CONTROL.
YOU CAN STILL HAVE THE LIMIT
ACCESS AND ENSURE THE DATA'S
ONLY AVAILABLE TO INDIVIDUALS
AND RESEARCHERS THAT ACCESS
THESE DATABASES HAVE TO AGREE
NOT TO TRY TO IDENTIFY YOU,
RIGHT.
CHALLENGES IN COLLABORATION, AS
I MENTIONED INSTITUTIONAL
PROCESS THE DATA USE AGREEMENTS,
MTAs AND IRB, IT'S A LONG
PROCESS TO GET IN PLACE.
SHARING YOUR DATA WITH THE
INCLUDE BIO REPOSITORY AND DATA
REPOSITORY HELPS WITH THAT SO
YOU DON'T HAVE TO HAVE THE
INDIVIDUAL DATA USE AGREEMENTS
IN PLACE.
AND RIGHT NOW THERE'S REALLY
LIMITED FUNDING FOR THE DATA
SHARING.
YOU'RE STRONG PUT A LOT OF TIME
AND EFFORT INTO DOING THIS
WITHOUT FUNDING TO BE ABLE TO DO
IT.
IT'S ALREADY BEEN MENTIONED
ABOUT THE DUPLICATION OF STUDY
PARTICIPANTS.
THAT IS CERTAINLY A CHALLENGE IN
COLLABORATION AGAIN IF YOU'RE
ONLY SHARING DEIDENTIFIED DATA
BUT DON'T WANT DUPLICATES.
OUR FAMILIES ARE GREAT ABOUT
PARTICIPATING IN STUDIES AND DO
IT ALL OVER THE UNITED STATES.
THEY'RE OFTEN IN MULTIPLE
STATES.
I'M ALMOST OUT OF TIME AND TALK
ABOUT CHALLENGES AND
PUBLICATION.
SOMETHING I RAN INTO WITH TRYING
TO COLLABORATE BECAUSE WE HAVE A
HUGE DATABASE AND ONE OF THE
LARGER CONTRIBUTORS TO INCLUDE
DCC AND HAVE MATERNAL INTERVIEWS
AND MEDICAL RECORDS AND GET
REQUESTS TO BE ABLE TO SHARE THE
DATA.
IF WE DO THE SAME DE-IDENTIFIED
BUT CAN'T ASK ME QUESTIONS THEN
I'M NOT ENGAGED IN RESEARCH.
IF I KEEP THAT CODE IN PLACE OR
I WANT TO BE INCLUDED ON A
PUBLICATION, I AM ENGAGED IN
RESEARCH.
AND THEREFORE THAT MEANS I HAVE
TO HAVE AN IRB PROTOCOL IN
PLACE, I HAVE TO HAVE A RELIANCE
AGREEMENT IN PLACE.
NOW, WHAT COMES AS A RESEARCHER
WHO REACHED OUT TO ME BECAUSE
THEY DID A MEASURE AND THE
REVIEWER OF THE JOURNAL ARTICLE
SAID THIS IS GREAT BUT CAN YOU
GIVE ME 50 MORE KIDDOS WHO DID
THE SAME MEASURE, I SAID YES,
I'M HAPPY TO SHARE.
NO, IT WILL BE SIX MONTHS BEFORE
I CAN GET THROUGH THE IRB
PROCESS TO BE ABLE TO SHARE THE
DATA OR GIVE UP MY PUBLICATION
RIGHTS.
AND IT'S TIME CONSUMING AND
PREVENT COLLABORATIONS.
I DO HOPE AS WE CONTINUE TO
CONTRIBUTE DATA TO THE INCLUDE
DCC OUR THOUGHTS OF HOW WE DO
MAKE SURE THE CONTRIBUTORS DO
GET CREDIT FOR THAT.
THAT WAS IT.
PLAN FOR THE FUTURE, RAW CONSENT
IS KEY AND NEED ADDITIONAL
FUNDING FOR DATA SHARING AND
HAPPY TO DO IT AND IT'S TIME
CONSUMING TO GO THROUGH THE
MEDICAL RECORDS IN AND BRING
THAT IN AND BE ABLE TO SHARE IT
AND I THINK IT'S IMPORTANT TO
HAVE THOSE COMMUNICATIONS
BETWEEN THE CONTRIBUTORS AND THE
DATA USERS.
AND I THINK JINLEE WILL TALK
ABOUT THE DATA USER SIDE.
THAT'S IT FOR ME.
THANK YOU SO MUCH.
>> NOW WE HAVE DATA DEPOS ED TO
THE DATA HUB.
WE HAVE DATA USER.
OUR NEXT SPEAKER IS DR. JINLING
LU FROM THE UNIVERSITY OF
FLORIDA AND THE TITLE IS SHARING
DATA FOR SECONDARY ANALYSIS.
SHE'S A USER FOR THE DATA HUB
BECAUSE MOST OF THE USERS ARE
PRIMARY DATA CONTRIBUTORS.
LET'S HEAR HER CASE FOR USING
DATA ANALYSIS.
>> THANK YOU.
WITH ALL THE EFFORTS FROM NIH
AND DATA SHARING POLICY AND
CONTRIBUTORS, I'M EXCITED TO
SHARE THE DATA AND WE'RE HERE TO
BENEFIT FROM ALL THIS.
STILL, I WANT TO SHARE WITH YOU
GUYS SOME USE CASES AND
CHALLENGES WE ALSO FACE.
HOPEFULLY THIS WILL BENEFIT THE
SECONDARY USERS FROM A BROADER
SCIENTIFIC COMMUNITY.
ACCESSING SHARED DATA FOR
SECONDARY ANALYSIS.
SO THE FOCUS ON MY LAB IS
DEVELOPING A.I. AND MACHINE
LEARNING APPROACHES TO COME UP
WITH PERSONALIZED TREATMENT AND
IDENTIFY BIOMARKERS.
THAT'S THE GENERAL GOAL.
FOR US THE DATA IS A SOURCE AND
WHERE WE ANALYZE.
WE ARE VERY SAD TO SAY THE DATA
BEING SHARED MORE AND MORE AND
MANY BIG CONSORTIUM DATA IN THE
PLATFORM.
THERE'S KIDS FIRST AND INCLUDE
PROGRAM.
WE STARTED ANALYZING THE KIDS
FIRST COHORT WHICH IS CO-HOSTED
BY THE INCLUDE PROGRAM.
WE KNOW THAT COMPARED TO OTHER
U.K. BIO BANK DATA MILLIONS OF
INDIVIDUALS HAVE HYPERTENSION
FOR KIDS FIRST COHORT IT'S A
SMALL, MEDIUM SIZED COHORT.
WE PUT EFFORTS IN TRYING TO
DEVELOP SOME METHODS INFERENCE
METHOD.
THAT SHOWED A GOOD ADVANTAGE IN
FINDING SOME BARRIERS WITH THE
GWAS IN THE SMALL COHORT SIZE.
IT'S TRYING TO EVALUATE THE
VARIANT IN THE OVER ALL
POPULATION.
IT'S LIKELY TO ADD VARIANCE
UNLESS YOU INCREASE THE SIZE TO
A MILLION SAMPLES.
SO FOR IBI IT'S FOCUSSING
DIFFERENT FROM GWAS FOCUSES ON
THE PATIENT AND HAVE THIS
VARIANCE.
WE CONSIDER THE INDIVIDUAL
GENETIC MAKE UP AND WE HAVE THIS
APPROACH TOGETHER WITH THE GWAS
TO FIND IT WAS ABLE TO
COMPLEMENT THE GWAS END
IDENTIFYING THE RARE VARIANTS.
WE DID PRELIMINARY ANALYSIS OF
GENOMIC VARIANTS.
THIS SHOWS SOME WELL KNOWN
VARIANTS AND THAT WORRIED --
WERE IDENTIFIED ACROSS THE
VARIANTS.
FOR GWAS IT'S MUCH LOWER.
IF YOU USE GWAS TO ANALYZE THIS
YOU MAY MISS ALL THE VARIANTS.
THEY'RE WELL KNOWN BUT WE DID
IDENTIFIED OTHER VARIANTS NOT
REPORTED BEFORE.
I WANTED TO SEE A USE CASE.
THE SHARED DATA HAS A LOT OF
BENEFITS FOR SCIENTIFIC
COMMUNITY FOR EXAMPLE THOSE WHO
DEVELOP NOVEL TOOLS FOR
DISCOVERY.
IT'S DEFINITELY A TEST FOR NEW
TOOLS AND ALSO WE CAN HAVE A
NORMAL FINDINGS FROM THE SAME
DATA TESTING NEW HYPOTHESIS OF
COURSE IT'S GOING TO DEVELOP
SUPPORT FROM THE DATA COMMUNITY
CENTER FOR KIDS FIRST OR
INCLUDE.
PROMOTE COLLABORATION AMONG THE
CONTRIBUTOR AND DCC.
AT THE SAME TIME WITH THE
SOLUTIONS WE'RE AT THE EARLY
STAGE OF UTILIZING THE DATA.
SO WE KNOW THIS IS THE MOST
MESSY DATA TYPE AND INCLUDE OR
KIDS FIRST HAVE HARMONIZED
MEDICAL DATA USING FOR
RESEARCHERS AND CONTRIBUTING
DATA WHO MAY NOT KNOW A LOT
ABOUT DOWN SYNDROME.
THEY WANT TO HELP WITH THE
TOOLS.
AND THIS PARTICIPANT HAS IT OR
NOT.
IT'S LIKE CONVENIENT FOR US TO
USE THE DATA.
AT THE SAME TIME WE REALIZED DUE
TO THE CHALLENGES EARLY STAGES
THERE'S POTENTIAL DISCONNECTIONS
AMONG THE DATA CONTRIBUTORS.
FOR EXAMPLE, LIKE FOR EXAMPLE IF
WE WE LOOK AT THE PARTICIPANTS,
I WANT TO FIGURE OUT WHICH ONES
HAS IT AND WHICH DOESN'T FOR THE
REQUIREMENTS.
SOMETIMES IT'S NOT THAT OBVIOUS.
IT'S IMPORTANT TO INVOLVE THE
SECONDARY USER TO MAKE SURE THE
DATA IS USABLE AND YOU CAN
COMBINE DATA FROM DIFFERENT
PLATFORMS.
YOU WANT TO DEVELOP STANDARD
PROTOCOL FOR THE DATA.
WE CAN COMBINE THEM TO INCREASE
SAMPLE SIZE AND OTHERS.
OKAY, GENOMIC DATA AND YOU GET
IT FROM THE DATA CONTRIBUTORS.
WE APPRECIATE TO HAVE ALL THESE
LIKE ALL THE DATA QUICKLY BUT WE
FACE CHALLENGES IN THE DATA FROM
FROM THE CLOUD PLATFORM FOR KIDS
FIRST AND INCLUDE.
ONE SAMPLE HAS A LARGE FILE BUT
GENERALLY WE WANT TO DO THE GWAS
APPLICATIONS YOU NEED A COHORT
TO ALLOW GENOMIC DATA.
HAVE A MATRIX.
THAT'S LIKE THE A.I. READY DATA
SET WHICH IS NOT THERE.
SO I'M KIND OF THINKING IT'S
IMPORTANT FOR IT TO BE THERE AND
MANY USERS OF THE PLATFORM ARE
NOT EXPERTS IN LIKE GENOME IC
DETAILED EXPERTISE AND IN
TALKING WITH THEM THEY'RE
PLANNING TO INCORPORATE THE
GENOMIC DATA AND IN THE PROCESS
OF PROVIDING EFFICIENT TOOLS.
YOU NEED GENOMIC AND OTHER DATA
TO BE ABLE TO ANALYZE THIS.
OKAY.
THE LAST POINT I WANT TO MAKE IS
YEAH, SO THINKING THEY'LL
PROJECTS ARE GREAT AND EVALUATE
WHETHER THE DATA SHARING POLICY
IS SUCCESSFUL OR NOT.
WE SHARED THE RELEVANT DATA
THERE AND THE ONLY USERS ARE THE
CONTRIBUTOR OR COLLABORATORS ARE
NOT MUCH USING AND SO I THINK
THAT'S THE GOAL OF DATA SHARING.
WITH ALL THE EFFORTS FROM
DIFFERENT PROJECTS WITH THIS
USER CENTRAL IN MIND BASICALLY
WOULD BE A GREAT FUTURE FOR THE
DATA SHARING AND UTILIZATION.
THIS IS THE ACKNOWLEDGEMENT.
THANK YOU.
>> THANKS THE SPEAKERS FOR GREAT
TALKS AND WE'LL OPEN IT UP FOR
QUESTIONS AND DISCUSSION.
WE'LL HAVE A 10-MINUTE COFFEE
BREAK AT 2:00 TO 2:10.
>> THANK YOU.
I WANT TO TOUCH ON A COUPLE
ISSUES THEY BROUGHT UP AND ONE
OF THOSE IS HOW DO WE INCREASE
THE VALUE FOR THE DATA
CONTRIBUTORS?
AND THERE'S A COLLABORATION AND
THE HUB FACILITATES THAT AND I
LIKE JINGLIN'S POINT AND SHOULD
HELP WITH THE CORRECT
ATTRIBUTION AND HOW DO WE REWARD
THE PEOPLE WHO GENERATE ALL THE
DATA?
AT THE MOMENT YOU CAN ASK FOR
SOME OF YOUR BUDGET TO GO TO THE
DATA MANAGEMENT PART BUT PEOPLE
WRITING RO1s DON'T WANT TO GIVE
UP THAT PART OF THE COST AND
NEED A CONVERSATION HOW DO WE
GET THAT TO BE MORE VALUABLE FOR
THE DATA CONTRIBUTORS AS WELL AS
SUPPORT THAT TWO-WAY
CONVERSATION WITH THE SECONDARY
DATA USERS.
THOSE ARE IMPORTANT ISSUES WE
CAN IMPROVE UPON.
>> IT COULD BE AS SIMPLE AS THE
INCLUDE DATA CONTRIBUTORS AND
AUTHOR ON THAT PAPER IS THE DATA
IS USED AND THEY CAN USE THAT TO
SAY YES THAT WAS PART OF THAT.
>> IT WOULD BE GREAT IF THERE
ARE PATHWAYS IN CONNECTING THE
USER.
>> CAN I ADD TO THE RO1 AND
BUDGET COMMENT.
ONE TALKING POINT IS IT'S AN
INHERENT PART GENERATING THE
DATA.
IF THEY BUILD INTO THE LIFE
CYCLE IT GOES TO A REPOSITORY AT
THE END LIKE INCLUDING HBO CODES
COULD BE VALUABLE FOR THE
RESEARCHER.
IT'S LIKE THE CONCERT ALREADY
BUILT IN.
ASK NIH FOR DATA SHARING MONEY
IN ALL YOUR GRANTS BUT ALSO HAVE
WHAT YOU NEED THERE AND CAN
LEVERAGE THAT.
>> I TALKED ABOUT QUANTITATIVE
DATA NEEDED FOR RESEARCHERS BUT
WE MAY WANT TO THINK OF OTHER
USERS OF YOUR DATA WITH
QUALITATIVE DATA LIKE CASE
STUDIES AND I THINK WE CAN HAVE
THE COHORT DEVELOPMENT BECAUSE
THE FAMILIES I THINK WILL
VOLUNTEER IF THEY SEE A STORY
AND I DIDN'T SEE THE DS CONNECT
BEING A HUB FOR DATA AND I THINK
IT'S IMPORTANT.
WE DON'T FORGET THE DS CONNECT.
>> WE LOVE DS CONNECT,
DR. DEEGAN.
>> I DIDN'T SEE IT IN YOUR DATA.
>> I DON'T HAVE TO SHARE MY
QUALITATIVE DATA FROM THE POLICY
AND THE ANSWER IS NO, YOU HAVE
TO SHARE THE QUALITATIVE DATA.
THE EXAMPLE YOUR GIVING IS MAKE
YOU TRANSFERRED CONVERSATION
STORIES LIKE THAT.
THERE ARE DATA REPOSITORIIES THT
DO THIS AND NO REASON WHY WE
CAN'T SHARE THAT KIND OF DATA.
THERE ARE EXTRA CHALLENGE FOR
DE-IDENTIFICATION AND TOOLS AND
WAYS TO MANAGE THAT.
>> I'M GOING ASK A QUESTION THAT
IS NOT ANSWERABLE.
ISN'T THAT GREAT?
I ENJOYED THE CONVERSATION ABOUT
WHAT IS PROTECTED AND WHAT ISN'T
PROTECTED WHEN IT COMES TO
ACROSS YOUR GUYS' CONVERSATIONS.
I'M SUMMARIZING A LOT OF THE
DATA FROM THE DATABASE.
SO AT WHAT POINT DOES SUMMARIZED
DATA BECOME DEIDENTIFIED ENOUGH
AND THE OTHER IS I LOVE WHAT YOU
GUYS ARE DOING THE GUIDS AND IS
THERE ANY WAY TO GET THE
INDIVIDUAL WITH DOWN SYNDROME
THEIR OWN GUID BECAUSE IF I WERE
SOMEBODY IN THIS STUDY, I WOULD
WANT TO KNOW WHERE MY DATA WERE
BEING USED.
AND MAKE THAT ISN'T TRI FOR THIS
COMMUNITY BUT I'D AT LEAST ASK
THEM IF THEY WANT IT.
>> TWO QUESTIONS.
I THINK THEY'RE BOTH FOR ME.
THERE'S WHERE AGGREGATED DATA
CAN BE OPEN ACCESSED THERE'S
PLACE WHERE'S IT'S NOT ALLOWED
AND AGGREGATE DATA IS WHAT
OCCURS IN PUBLICATIONS.
SO BECAUSE YOU'RE ALSO USED TO
PUBLISHING YOU KNOW WHAT CAN GO
IN AND WHAT CAN'T.
THERE ARE OTHER STANDARDS LIKE
FOR QUALITATIVE DATA OTHER
COMMUNITIES HAVE SET UP.
I THINK IT'S SOMEWHAT A KNOWN
ENTITY AND IF YOU WANT TO TALK
ABOUT IT WE CAN.
IN TERMS OF THE GUID IT'S AN
INTERESTING QUESTION.
THERE'S A LOT OF RULTZ AROUND
THEM BECAUSE WE'RE DOING
SOMETHING SENSITIVE.
WE'RE ENABLING THE LYNCH
LINKAGE OF DATA SETS NOBODY
THOUGHT WOULD BE BEFORE AND IT'S
GOVERNED BY AN IRB PROTOCOL OR
SOMETHING ELSE.
WHEN WE BRING THOSE TOGETHER WE
NEED EXTRA RULES FOR THE UNKNOWN
RISK.
WE DON'T KNOW THE KNOWN RISK
BECAUSE THERE WAS NEVER ONE
WHOLE IRB AND WITH THAT THE
GUIDS ARE ONLY FOR RESEARCH
PURPOSES AND THERE'S FEDERAL
LAWS THAT PUT CONSTRAINTS ON
THIS SORT OF THING BECAUSE WE'RE
NOT TO RECREATE A SOCIAL
SECURITY NUMBER IN THE RESOURCE
SETTING AND THERE'S WAY TO MEET
THE NEED AND TALKING ABOUT DATA
SHARED WITHIN THE GUARDRAILS OF
WHAT YOU'RE IRB ALLOWS TO YOU DO
BUT WHAT YOU'RE TALKING ABOUT WE
HAVE TO BE CAREFUL.
>> I THINK THERE'S WAYS TO GIVE
BACK TO OUR PARTICIPANTS.
WE MAY NOT BE ABLE TO A YOUR
EXACT DATA WAS USED BUT INCLUDE
DATA AS A WHO WILL WAS USED IN
THIS STUDY.
AND THIS IS THE GREAT THINGS WE
FOUND OUT AND HERE YOU HEAR ME
PREACH ABOUT THIS A LOT IS A
READING LEVEL THAT CAN BE
UNDERSTOOD BY SOMEONE WHOSE NOT
GOT A SCIENTIFIC BACKGROUND.
>> AS I STAND HERE I HAVE MORE
QUESTIONS AN COMMENTS.
WE'RE INCREASING GETTING THE
QUESTION BY PARTICIPANTS HOW DO
I KNOW HOW MUCH MY DATA HAS BEEN
EMPOWERED.
INCLUDE COULD BE AN AMAZING
TESTING GROUND FOR THAT.
AND I ENCOURAGE TO LOOK AT IT AS
A TESTING GROUND FOR THINGS
BROUGHT UP.
I WANTED TO GIVE QUESTION TO
JINGLIN AND THE MINUTE A
SECONDARY USER ENGAGE THE DATA
SETS NO MATTER HOW GOOD OF A JOB
YOU DO AS A DCC OR DATA
CONTRIBUTOR YOU ALWAYS FIND WAYS
TO IMPROVE THE DATA.
A CONSISTENT MESSAGE IS USE OF
DATA CONSISTENTLY IMPROVE
BECAUSE YOU START ASKING A
DIFFERENT QUESTION ABOUT THE
DATA GENERATED.
CREDIT TO YOU FOR DOING THAT.
AND HERE WHEN YOU'RE DOING JOINT
CALLING AS AN EFFORT, YOU'RE
POTENTIALLY MAKING DISCOVERIES
THAT PRETTY MUCH GUARANTEE THE
ORIGINAL CONTRIBUTORS THEM
RECEIVED WOULD HAVE BEEN ABLE TO
MAKE LOOKING AT THEIR OWN DATA
SET AND LOOK AT THE TENSION OF
DISTRIBUTION.
ONE AREA OF OPPORTUNITY FOR
INCLUDE IS TO THINK ABOUT WHAT
ARE THE CONNECTION POINTS WE CAN
CREATE IN ADVANCE OF THOSE
FRAMEWORKS THROUGH TRANSPARENCY
AROUND PROJECTS AND WHAT PEOPLE
ARE DOING SO YOU GUYS CAN
CONNECT NOT JUST BECAUSE YOU'RE
BY CHANCE IN THE SAME MEETING
AND CAN SEE EACH OTHER BUT
THERE'S A MORE FORMAL PROCESS IN
WAYS TO DRIVE THAT.
WE'VE SEEN WHEN HAVE YOU
COMMUNITIES THAT CAN HAPPEN AND
THE KEY FOR THAT TRANSPARENCY
THE ACTIVITIES OF RESEARCH.
AND I THINK THE POLICY SPACE IS
FOUNDATIONAL BECAUSE DB GAP
PUBLIS
PUBLISHES DESCRIPTIONS AND
EMPOWER THEM SO THE COMMUNITY
HAS A TRANSPARENT VIEW OF WHAT
DATA IS BEING USED FOR WHAT,
WHAT PROJECTS CONNECT AND HOW TO
EXPERIMENT ON IT AND THAT TO MY
KNOWLEDGE HAS NOT BEEN DONE
SUCCESSFULLY AND THINK INCLUDE
CAN DO THAT MOVING FORWARD.
AND THE OTHER PART IS PRESSING
THE QUESTION TO ASK THE
FOLLOWING WHICH IS, AS YOU'RE
CONTINUING TO GENERATE DATA WHAT
YOU'RE ASKING FOR IS DEFINE DATA
FREEZES ESSENTIALLY.
YOU CAN CREATE A DATA PROJECT
AND MAKE DECISIONS ON WHEN ARE
WE GOING TO DO A JOINT CALL
ACROSS ALL INCLUDE DATA AS A
DATA FREEZE?
AND IT'S CHALLENGING WHEN YOU'RE
WORKING ACROSS PROJECTS THAT
AREN'T COORDINATED OR CREATED IN
RELATIONSHIP TO EACH OTHER.
THAT'S PROBABLY TE BEST WAY TO
CREATE UNIFIED PROJECTS TO WORK
TOGETHER.
I THINK THE SESSION IS BRINGING
UP A REALLY AMAZING SET OF
OPPORTUNITIES AND KEYS IN THE
COMMUNITY HERE.
>> ONE LAST BRIEF QUESTION.
SORRY.
>> I WANT TO APPRECIATE THE HELP
FROM DCC AND ADAM'S GROUP AND
THE OTHERS AND THEY'RE DOING
THEIR BEST TO MEET THE TEDIOUS
QUESTIONS ON DATA AND TRYING TO
IMPROVE.
THEY ALSO FACE CHALLENGES
BECAUSE THEY NEED TO GO BACK TO
DATA CONTRIBUTORS TO SOLVE THE
QUESTIONS.
I WAS THINKING AND MAYBE THIS
HAS BEEN DISCUSSED IN SOME BRIEF
SESSIONS MAYBE WE SHOULD COME UP
WITH A PROTOCOL HOW TO COLLECT
THE DATA SO WE GOT THAT FROM THE
CONTRIBUTOR FROM THE BEGINNING
AND IT'S EASIER FOR FURTHER
HARMONIZATION AND USERS.
THANK YOU.
>> IN THE INTEREST OF TIME WE
CAN'T ASK FOR MORE QUESTIONS AND
ASK DURING THE COFFEE BREAK.
THANK YOU.
>> WE'LL BE STARTING PROPERLY AT
2:10.
IF YOU DON'T NEED A COFFEE WE
RECOMMEND STAYING CLOSE.
I KNOW SOME HAVE FLIGHTS THIS
EVENING.
>> HELLO.
GOOD AFTERNOON.
WE'LL GET STARTED AS PEOPLE MAKE
THEIR WAY BACK IN FROM THE
COFFEE BREAK FOR THE INTEREST OF
TIME HAVE A HARD STOP AT 3:00
FOR THE NEXT SESSION.
SO I'M ONE OF THE PROGRAM
DIRECTORS AT NICHD AND ALSO
LEADING THE DIVERSITY, EQUITY,
INCLUSION AND ACCESSIBILITY
INITIATIVES FOR INCLUDE.
THE BEST PANEL IS FOR THE END OF
THE TWO DAY FANTASTIC MEETINGS.
WE HEARD ABOUT COMMUNITY
ENGAGEMENT INCLUDING COMMUNITY
MEMBERS, FAMILIES, CAREGIVERS AN
WILL HEAR FROM OUR TERRIFIC
MEMBERS OF OUR PANELS ABOUT
THEIR ACTIVITIES IN THIS SPACE.
I'M JUST GOING GIVE A BRIEF
OVERVIEW.
I'M PREACHING TO THE CHOIR.
WE KNOW WE NEED TO ENGAGE THE
COMMUNITY AND HAVE SEEN SOME OF
THE SLIDES.
WE'VE ADVANCED MEDICAL TREATMENT
AND CURRENTLY WE'RE LOOKING INTO
THE AGING POPULATION HAVING
DEMENTIA AND ALZHEIMER'S.
THOUGH WE'VE MADE STRIDES IN
INCREASING THE LIFE SPAN WE NOW
HAVE TO FOCUS ON AGING ISSUES.
WE HAD THE SLIDE IN A PREVIOUS
PRESENTATION THOUGH WE HAVE MADE
STRIDES IN LIFE EXPECTANCY
THERE'S A HUGE HEALTH DISPARITY.
ALL THIS DATA IS A COUPLE
DECADES OLD.
WE HAVE NOT CLOSED THE GAP IN
LIFE EXPECTANCY WHEN WE LOOK AT
OTHER RACE.
I KNOW DR. EGAN HAD A QUESTION
ABOUT DS CONNECT AND WHY IT
WASN'T IN THE PREVIOUS SESSION
BUT IT'S PART OF THE INCLUDE
DCC.
IT'S IN TRANSITION BUT HAS BEEN
OPERATIONAL MORE THAN 10 YEARS
AND LAUNCHED IN 2013 AND ALL
ONLINE, CONFIDENTIAL AND WE HAVE
MEDICAL AND RESEARCH
PROFESSIONALS WHO USED THE
REGISTRY TO RECRUIT FOR THE
STUDIES.
WE HAVE A LOT OF INCLUDE FUNDED
INVESTIGATORS WHO HAVE BEEN
USING THE REGISTRY TO RECRUIT
THOR FOR THE STUDY AND MORE THAN
100 PROJECTS HAVE BENEFITTED BY
APPLYING FOR DS CONNECT.
THERE'S A LOT OF WORK TO DO NOT
JUST FOR OUR BUT OTHER STUDIES
HAVE ISSUES.
WE'RE AWARE WE HAVE TO DO
ENGAGEMENT OUTREACH NOR STUDIES
WE SUPPORT AND FUND.
IT THERE'S BEEN COMMUNITY
ENGAGEMENT AND OUTREACH.
WE ATTEND A LOT OF THESE EVENTS.
ONE OF THE KEY ELEMENTS IS ALSO
SHARING IN THE OUTCOME AND THE
LAST PANEL TALKED ABOUT TRYING
TO DISSEMINATE THE INFORMATION
TO FAMILIES IN A READING LEVEL
THEY CAN UNDERSTAND AND WE ALSO
TOOK PART.
THIS IS EFFORT FROM OUR TEAM AND
WE WORKED ON A LOT OF EVENTS FOR
COMMUNITY ENGAGEMENT.
I'M PLEASED TO INTRODUCE
DR. COHEN READING THE
RECRUITMENT AND OUTREACH CORPS
OF THE ALZHEIMER'S DISEASE
ENGAGEMENT CORPS AND TALK ABOUT
HER COMMUNITY-BASED
PARTICIPATORY RESEARCH.
>> THANK YOU FOR THE INVITATION.
IT'S BEEN A GREAT COUPLE DAYS
AND I'VE GOTTEN WONDERFUL IDEAS
AND LEARNED SO MUCH.
I'M GOING TALK A LITTLE BIT
ABOUT OUR EXPERIENCE IN THE
ABC-DS STUDY WITH COMMUNITY
ENGAGEMENT AND FOCUSSING ON
COMMUNITY-BASED PARTICIPATORY
RESEARCH AND FORMING
PARTNERSHIPS WITH THE DOWN
SYNDROME COMMUNITY.
WHAT IS GOAL?
DISSEMINATE EDUCATIONAL
MATERIALS REGARDING THE
IMPORTANCE OF RESEARCH AND
RESEARCH METHODS SPECIFICALLY IN
ALZHEIMER'S DISEASE IN ADULTS
WITH DOWN SYNDROME AND GENERATE
MATERIALS THAT ARE CULTURALLY
APPROPRIATE TO BRAIN AGING IN
DOWN SYNDROME AND THE THIRD AIM
AND THE THIRD AND NOT THE FIRST
AIM IS TO INCREASE RECRUITMENT
OF INDIVIDUALS WITH DOWN
SYNDROME IF THE STUDY.
OUR GOAL IS PARTNERSHIP WITH THE
COMMUNITY AND TO MEET THE
COMMUNITY WHERE THEY ARE.
FROM THAT WE HOPE RECRUITMENT
WILL COME.
IT'S A SECONDARY AIM OF OUR
CORE.
OUR MODEL IS ACROSS THE SPECTRUM
OF COMMUNITY ENGAGEMENT BORROWED
FROM AN ORGANIZATION CALLED
FACILITATING POWER.
YOU CAN SEE THE TRADITIONAL
STORY ON ONE HAND IS TRICKY THE
TRADITIONAL MODEL IS
HISTORICALLY BEEN TO INFORM THE
COMMUNITY WITH RELEVANT RESEARCH
WE CAN FIND.
WHAT WE TRIED TO MOVE THE
APPROACH TO IS CONSULTING WITH
THE COMMUNITY AND INVOLVING THE
COMMUNITY AND COLLABORATING WITH
THE COMMUNITY IN ORDER TO
PERFORM OUR RESEARCH STUDIES
WITH OUR GOAL BEING EVENTUAL
DEMOCRATIC PARTICIPATION BETWEEN
THE COMMUNITY AND SHARED
GOVERNANCE OF OUR STUDIES AND
RESEARCH DRIVEN AND ESSENTIALLY
NOTHING FOR US WITHOUT US.
THE COMMUNITY WILL BE INVOLVED
IN EVERY STEP OF THE PROCESS.
SOME OF THE THINGS WE'VE BEEN
WORKING ON ARE TO ENSURE AT
EVERY STEP OF THE WAY COMMUNITY
MEMBERS WITH DOWN SYNDROME AND
THEIR LOVED ONES HAVE A SEAT AT
THE TABLE.
SO YOU HEARD DR. TOMI TALK ABOUT
THIS AND DR. RAFII WE'RE
ENGAGING IN EVERY STEP OF THE
RESEARCH.
AND WE'VE BEEN WORKING VERY HARD
TO IDENTIFY HOW OUR RESEARCH CAN
BE OF SERVICE TO THE COMMUNITY
AND ONE OF THE CRITICAL PIECES
OF THIS IS NOT SAYING WHAT WE
THINK OUR RESEARCH IS A SERVICE
TO THE COMMUNITY BUT TALKING TO
THE COMMUNITY OF HOW WE CAN BE A
SERVICE AND HIT-AND-RUN
APPROACHES WHERE WE PROMISE LOTS
OF THINGS TO COMMUNITIES AND
WHEN THE RESEARCH STUDY IS
FINISHED OR WHEN THE FUNDING
RUNS OUT, THESE THEMES
DISAPPEAR.
A TRUE PARTNERSHIP CAN'T DO THAT
AND IDENTIFY CHALLENGES AND
BARRIERS TO RESEARCH
PARTICIPATION.
THIS INCLUDES COSTS OF MONEY AND
TIME AND ACKNOWLEDGING MANY
INDIVIDUALS IN THE DOWN SYNDROME
COMMUNITY ARE WORKING, MAY LOSE
INCOME TO PARTICIPATE IN OUR
STUDIES.
IDENTIFYING NOVEL WAYS TO AVOID
THOSE BARRIERS AND WE HAVE TO
ACKNOWLEDGE THE FACTORS DIFFER
BY COMMUNITY.
DOWN SYNDROME COMMUNITY IS NOT A
MONOLITH LIKE ANY OTHER
COMMUNITY.
WE HAVE TO DESIGN RESEARCH
STUDIES TO BE AS INCLUSIVE AS
POSSIBLE.
I WANT TO MENTION ONE OF THE
THINGS WE WORKED HARD ON CONVENT
IN RESEARCH STUDIES AND IDENTIFY
BARRIERS IN THE DOWN SYNDROME
COMMUNITY.
WE KNOW THERE'S' LACK OF TRUST
AND YOU HEAR YOU DON'T KNOW
WHAT'S HAPPENING IN LABORATORY.
IF YOU READ OUR INFORMED CONSENT
OFTEN THERE'S CONTRADICTIONS
REQUIRED BY OUR IRBs ABOUT
KEEPING YOUR INFORMATION SAFE
AND THIS BECOMES CONFUSING TO
INDIVIDUALS.
ENGAGE THE COMMUNITY EARLY AND
TAKING IT TO OUR IRBs AND SAYING
THE COMMUNITY HAS IDENTIFIED
THESE THINGS AS CONFUSING AS
CONTRADICTORY HAS BEEN HELPFUL
IN IDENTIFYING SOME OF THE
BARRIERS AND BUILDING TRUST.
AND IN COLLABORATION WITH ABDC
TO ENSURE THESE INDIVIDUALS
DON'T NEED TO MISS WORK AND IT'S
AN EASIER TIME FRAME FOR THESE
FOLKS WAS GETTING FEEDBACK FROM
THESE INDIVIDUALS.
WHILE IN DIFFERENT STATES AND
DIFFERENT LOCATIONS YOU'RE GOING
HAVE DIFFERENT REQUIREMENTS FOR
LARs OR CAREGIVERS OR THE
INDIVIDUALS RESPONSIBLE FOR
SIGNING CONSENT DOESN'T MEAN THE
CONSENT SHOULD ONLY BE
ACCESSIBLE TO THE LARs.
WE DESIGNED A VARIETY OF THINGS
THAT AND INCLUDE SOCIAL STORIES
AND BOOKS TO THAT ARE MORE
ACCESSIBLE TO INDIVIDUALS WITH
DOWN SYNDROME.
I'M HIGHLIGHTING ON THE WEB PAGE
THERE'S ACCESS TO SOCIAL STORIES
ABOUT MRIs AND PET SCANS AND
GREAT VIDEOS ON THE WEBSITES AS
WELL.
IT WILL ALLOW INDIVIDUALS TO BE
ABLE TO UNDERSTAND THESE
RESEARCH PROCEDURES THAT WE'RE
DOING MORE EASILY AND EVEN IF
THE INDIVIDUAL WITH DOWN
SYNDROME ISN'T THE PERSON
SIGNING THE CONSENT OFFICIALLY,
THEY SHOULD STILL BE ABLE TO
UNDERSTAND TO THE FULLEST EXTENT
WHAT THE RESEARCH PROCEDURES ARE
DOING AND HOW HAVE A VOICE IN
THE PROCESS.
IN ADDITION TO THAT, I WANTED TO
TALK A LITTLE BIT AND I KNOW OUR
CRAB TEAM WHO HAD A POSTER
EARLIER HAS BEEN TALKING TO MANY
OF YOU AT THE MEETING TODAY THAT
WE HAVE WE ARE FUNDED RIGHT NOW
TO EXECUTE THE FIRST
COMMUNITY-LED IMMERSION
EXPERIENCE WITH OUR ABC-DS TEAM
FOR COMMUNITY-BASED
PARTICIPATORY TRAININGS IN THIS
GROUP.
WE DEVELOPED AND WE NEED BUT THE
TEAM AND THE INFRASTRUCTURE
BEHIND THE IT SCENES DEVELOPED
AN IN DEPTH CBPR CURRICULUM WITH
ANTI-RACISM PRACTICE.
WE HAD A COHORT WITH OUR 86
MEMBERS JOINING US VIRTUALLY FOR
THE TRAINING AND SAEFS HOW --
ASSESS HOW THEY'LL DESIGN
TRAININGS TO ADDRESS NEEDS WITH
OUR LONG-TERM GOAL GOING BACK TO
THE ORIGINAL FIGURE WHICH IS THE
CO-FACILITATION OF RESEARCH WHEN
RESEARCHERS AND THE COMMUNITY.
THE LAST THING I WANTED TO
MENTION HERE IN ANOTHER EFFORT
ABC-DS IS MAKING TO MAKE OUR
RESEARCH MORE ACCESSIBLE IS
IDENTIFY HOW EVERYONE CAN GET A
SEAT AT THE TABLE.
ONE THING WE KNOW IS MANY ARE
AFFILIATED AT LARGE ACADEMIC
INSTITUTIONS THAT ARE IN LARGER
CITIES AND ONE OF THE CHALLENGES
WITH THAT IS THAT MANY
INDIVIDUALS IN OTHER LOCATIONS
GET LEFT BEHIND AND SO IN
COLLABORATION WITH THE
UNIVERSITY OF WISCONSIN-MADISON
BOTH MEMBERS OF THE ABC-DS TEAM
WE CREATED AND ALLIED -- APPLIED
FOR FUNDING WITH THE UNIVERSITY
OF PUERTO RICO AND DOWN SYNDROME
ASSOCIATION TO BUILD CAPACITY TO
HAVE ALZHEIMER'S DISEASE AND
DOWN SYNDROME RESEARCH AND WORK
WITH THE COMMUNITY TO IDENTIFY
CHALLENGES IN PARTICIPATION IN
RESEARCH.
ONE THING BEFORE I WRAP UP IS
THE COMMENTARY WE'RE FROM THE
COMMUNITY.
I FEEL IT'S IMPORTANT TO SHARE
THIS AND ONE OF THE MOTHERS SID
SAID TO THE WE NEED TO CONSIDER
HOW ADULTS WITH DOWN SYNDROME
COMMUNITY AND MY DAUGHTER WOULD
OFTEN SAY MY HEAD FEELS FULL AND
THEY HAD TO THEIR DAUGHTER WAS
EXPRESSING DIFFICULTY WITH
COGNITION AND THINK BUT FOR HER
IT WAS AS THOUGH HER HEAD FELT
FULL.
ANOTHER SAID MY SON DOESN'T DO
WELL WITH TWO TO THREE STEP
INSTRUCTION OR QUESTIONS.
IT DOESN'T MEAN HE DOESN'T
UNDERSTAND BUT WE HAVE TO GO
SLOWER AND LET HIM SHARE
FEELINGS ABOUT EACH STEP.
HE DOESN'T HAVE LESS VALUE
BECAUSE IT TAKE HIM LONGER TO
GET THERE.
I THINK THESE STATEMENTS WE AS
RESEARCHERS NEED TO BE HEARING
AND MODIFYING OUR RESEARCH
STUDIES TO PETE THESE
INDIVIDUALS WHERE THEY ARE.
IN SUMMARY IT'S NOT A ONE-SIZE
FITS ALL APPROACH.
IT NEEDS TO BE AN INTERACTIVE
PROCESS WITH OUR COMMUNITY
PARTNERS TRAINING IN CULTURAL
HUMILITY IS KEY AND I'LL STOP
THERE BUT I WANT TO END WITH ONE
OTHER QUOTE.
THIS MOM SAID WE'RE AMONG THE
FIRST GENERATION TO GET OUT AND
LIVE INDEPENDENTLY AND LIVE IN
THE COMMUNITY.
THEY WERE THE FIRST TO HAVE FULL
INCLUSION AND SO MANY THINGS AND
IMPOSSIBILITIES AND GIVES ME
CHILLS WHEN THINK HOW WE'RE ON
THE CUSP OF THE TRAILBLAZING
GENERATION BEING TRAILBLAZERS
AGAIN IN TREATING ALZHEIMER'S
DISEASE.
THANK YOU.
>> NEXT WE HAVE THE DIRECTOR OF
THE CENTER FOR HEARING RESEARCH
AT THE RESEARCH HOSPITAL IN
OMAHA, NEBRASKA.
SHE WILL TELL US HOW THEY ARE
TRAVELLING TO UNDER SERVED
COMMUNITIES AND RURAL
COMMUNITIES USING THEIR MOBILE
RESEARCH VAN.
>> FIRST, THANK YOU TO THE
INCLUDE COMMUNITY.
WE'RE RELATIVELY NEW.
WE STARTED IN 2018 WITH A
SUPPLEMENT TO AN EXISTING GRANT.
I REALLY APPRECIATE IT.
IT'S BEEN A WELCOMING COMMUNITY
AND NOW YOU HAVE TO LISTEN TO US
ASK QUESTIONS ABOUT HEARING IN
YOUR STUDIES I APPRECIATE THAT.
THIS IS LIKE SPEED DATING.
IF YOU HAVE QUESTIONS REACH OUT
TO ME OR MY COLLEAGUES AND I'LL
SPEND TIME ON THE IRB BECAUSE
THAT'S WHAT MOST ARE EXCITED
ABOUT.
AND WE HAVE STUDIES FUNDED BY
THE INCLUDE PROJECT WHICH WE
UNDER THE UMBRELLA PROJECT AND
WE WANT TO INCLUDE PRIOR TO
GETTING INCLUDE FUNDING HEATHER
HAS A LONG BACKGROUND IN WORK
WITH INDIVIDUALS WITH DOWN
SYNDROME AND THE ONLY CHAPTER IN
ANY TEXTBOOK ON HEARING LOSS IN
INDIVIDUALS WITH HEARING LOSS
THAT'S AVAILABLE.
WE IN MY LAB AND WE'VE BEEN
DOING AND THANK YOU TO FUND IIN
SOME MAY OR MAY NOT BE FAMILIAR
WITH BOYS TOWN AND THERE'S A
MOVIE I RECOMMEND.
THE MISSION OF BOYS TOWN HAVE
HEAVY INVOLVEMENT IN YOUTH
MENTAL HEALTH, RESIDENTIAL
TREATMENT CENTERS.
UNDER SERVED POPULATIONS IN
GENERAL.
THAT IS OUR ORGANIZATION AND WE
HAVE OTHER PROJECTS DESIGN TO
CREATE CLINICAL TOOLS FOR
SPANISH/ENGLISH BILINGUALS AND
THEY STARTED AN INCLUDE PROJECT
WITHIN A MONTH SO WE ARE VERY
FORTUNATE.
THIS IS EVEN A SNAPSHOT OF THE
TEAM.
I DON'T WANT TO ACT LIKE AN
EXPERT IN COMMUNITY-ENGAGED
RESEARCH.
I'M NOT.
I HAVE A TERRIFIC TEAM AND WE
ALL CONTRIBUTE PARTS AS WELL.
I'M A PROGRAM DIRECTOR THROUGH
THE NATIONAL INSTITUTE OF
MEDICAL SANE SCIENTIST AND I
TALK ONE MY HANDS SO I'LL KEEP
HITTING THIS, THESE ARE THE
THINGS I'LL TALK ABOUT BUT I'LL
FOCUS ON THE TRAILER.
I THOUGHT TO DESCRIBE WHAT WE DO
IN GENERAL.
WHAT OUR GOALS WERE STUDIED.
IF I CAN MAKE THE VIDEO WORK
YOU'LL HEAR HEATHER DESCRIBE IT
WHICH IS BETTER THAN ME
DESCRIBING IT.
>> WE WORK ON INDIVIDUALS IN
HEALTH CARE AND FIGURING OUT
FUNDAMENTALS THE WAY THEY'RE --
THEIR HEARING WORKS IN EVERY DAY
LIFE.
ONE THING CHARACTERISTIC OF
INDIVIDUAL WITH DOWN SYNDROME
HAVE NARROW OR SMALL OR EAR
CANAL.
ONE BIG GOAL IN OUR PROJECT IS
TO CHARACTERIZE THAT AND WHAT
WE'LL BE DOING IS RATHER THAN
RELYING ON EXTERNAL CALIBRATION
WE'LL DO A UNIQUE CALIBRATION
FOR EVERY INDIVIDUAL WHO COMES
IN SO WE CAN SEE EXACTLY WHAT
THAT DIFFERENCE WOULD BE AND
IMPROVE THE WAY THAT WE'RE
ASSESSING HEARING.
WE'RE RECRUITING INDIVIDUALS
ACROSS THE LIFE SPAN.
STUDIES FOR INFANTS,
PRESCHOOLERS AND ADULTS AND
OLDER ADULTS.
OUR IMMEDIATE GOALS ARE TO
IMPROVE THE WAY WE TEST HEARING
IN THE CLINIC AND FIGURE OUT THE
THINGS THAT BENEFIT THEM WHEN
LISTENING IN REAL WORLD TYPE
ENVIRONMENTS LIKE IN BACKGROUND
NOISE AND TO SEE IF THERE ARE
THINGS WE CAN DO TO MODIFY
INTERVENE IF THERE ARE PROBLEMS
TO IMPROVE OUTCOMES LATER FOR
THEM.
THIS BABY HAS GONE ON TO BE A
BABY MODEL IN NEBRASKA.
WE'RE PRETTY CLINICAL
TRANSLATIONAL.
MY RESEARCH IS MORE AUDITORY
DEVELOPMENT BROADLY BUT
INTERFACE WITH CLINICIANS,
COMMUNITY AND RESEARCH TEAMS AND
WE ALSO HAVE ONE WHICH HAS BEEN
TERRIFIC IN TERMS OF GETTING
FEEDBACK.
WE ARE CURRENTLY LAUNCHING A
QUALITATIVE SURVEY TO GET A
HANDLE ON ACCESS TO HEARING
HEALTH CARE IN DIFFERENT
COMMUNITIES.
THEY'VE BEEN TREMENDOUS IN TERMS
OF HELPING US GUIDE WHAT WE
SHOULD BE PUTTING IN THE SURVEY.
WE WERE ABLE TO DO REMOTE
TESTING AN IT'S SENDING IT HOME
WITH FAMILIES AND WORKED WELL
AND AUDITORY STUDIES ARE NOT
EASY IN A HOME AND HAVE
COLLEAGUES INTERESTED IN THESE
ISSUES AS WELL WE'RE DOING NOR
STUDIES THIS SUMMER AND FAMILY
LOVE IT BECAUSE WE DROP OFF
EQUIPMENT AT THEIR HOME AND WITH
AN INSTRUCTION MANUAL AND THEY
REALLY LOVED IT.
SO I WANTED TO TALK ABOUT WHAT
PROMPTED US TO GO AHEAD AND
START TESTING IN COMMUNITIES.
AT THE END OF YEAR ONE AND
HEATHER AND I HAVE GRANTS THAT
FALL UNDER OUR INCLUDE PROJECT.
WE HAD OVERWHELMING SUPPORT FROM
OUR COMMUNITY AND THE DOWN
SYNDROME ALLIANCE IN THE
MIDLANDS IN THAT AREA AS WELL.
AND DESPITE THAT OVERWHELMING
SUCCESS WE CLEARLY WEREN'T
REPRESENTING EVERYBODY IN OUR
COMMUNITY.
THIS IS OUR SAMPLE.
YOU CAN SEE IT WAS LARGELY
WHITE, ENGLISH SPEAKING IN THE
HOME, MOTHERS WHO ARE HIGHLY
EDUCATED AND MOST LIVED IN AN
URBAN AREA WITH PRETTY GOOD
ACCESS TO HEARING HEALTH CARE.
THAT PROMPTED US TO START
THINKING ABOUT GOING INTO
COMMUNITIES.
WE HAD -- I'M GOING HAVE A SLIDE
IN A MINUTE THAT TALKS ABOUT THE
EVOLUTION OF THE RESEARCH AND
IT'S A 31-FOOT TRAILER WITH A
HOSPITAL-GRADE SOUNDING IN THE
BACK EVERYTHING YOU'D HAVE IN A
CLINICAL AUDIOLOGY SUITE.
IN FACT OUR CLINICAL
AUDIOLOGISTS USE IT TO GO TO
IOWA.
THEY HAVE A CONTRACT WITH A
GROUP IN IOWA AT A RESIDENTIAL
HOME AND NOW THEY TAKE THE RV TO
GLENWOOD, IOWA AND IT MEETS
THEIR REQUIREMENTS FOR CLINICAL
TESTING.
IT'S CLIMATE CONTROLLED AND HAS
SPACE FOR DOING OTHER
ASSESSMENTS AND A LITTLE BIT OF
WAITING AREA.
IT'S BEEN AMAZING AND WE STARTED
THINKING ABOUT IT IN 2020.
WE WERE INSPIRED.
I MET A SCIENTIST HERE FROM
ALABAMA WHO KNOWS MARCIA
McCKU
McCUTCHEN TO PROVIDE RESEARCH
AND CLINICAL SCREENINGS FOR
INDIVIDUALS IN THAT COMMUNITY.
IT'S A ONE OF THE POOREST
COMMUNITIES IN THE UNITED
STATES.
AND SHE AND I TALK A LOT.
SHE'S CANADIAN AND I'M CANADIAN
AND SEEMS TO BE ALL YOU NEED AND
BECAME FRIENDS AND GOT A
SUPPLEMENT TO HELP FUND THE
VEHICLE.
WE HAVE TERRIFIC INSTITUTIONAL
SUPPORT.
IT'S WELL WITHIN THEIR MISSION
AS WELL.
SO AGAIN HAPPY TO TALK ABOUT ALL
THOSE THINGS BUT WE GOT IT.
THE AIR CONDITIONER BROKE AFTER
THE FIRST SIX MONTHS AND WE GOT
THAT FIXED AN NOW WE LAUNCHED.
HE'S WHERE WE'VE BEEN AN WHERE
WE'RE GOING.
WE HAVEN'T BEEN TO DENVER BUT
HEATHER AND HER TEAM WILL BE
THERE TOMORROW.
THE RV IS LEAVING TONIGHT
PROVIDED THERE'S NO TORNADO
WHICH THERE MAY BE IN OMAHA AND
I'M NOT SUPPOSED TO TELL
HEATHER.
WE'VE BEEN TO TELL SITES IN
RURAL NEBRASKA, SOUTH DAKOTA,
THERE'S SITES IN FLORIDA AND WE
WERE ABLE TO GO THERE AND THOSE
CHILDREN LIVE ON CAMPUS IN BOYS
TOWN SO THEY'RE MEDICALLY,
SOCIALLY, EMOTIONALLY UNDER
SERVED CHILDREN AND THAT WAS
TREMENDOUS FOR US AND ALL
AROUND.
ALREADY THESE ARE COMMITMENTS
FOR NEXT YEAR.
WE'RE ALWAYS OPEN TO MORE.
IF YOU HAVE A SITE WHERE YOU
THINK THIS IS SOMETHING GOOD OR
WANT US TO COME DO HEARING
SCREENINGS AND NOT NECESSARILY
RESEARCH WE'RE USUALLY OPEN TO
IT DEPENDS ON TIME BUT WE'LL DO
A TOUR OF THE SOUTHERN UNITED
STATES EVERY JANUARY AND
FEBRUARY BECAUSE WE'D LIKE TO
NOT BE IN OMAHA THEN.
WE TALKED WITH IN ATLANTA AND
SOUTH CAROLINA AND MAY ADD THAT
AND HAPPY TO DO THAT.
THIS IS A QUICK SUMMARY OF THE
CHALLENGES AND GREAT THINGS TOO.
IT'S TOTALLY WORTH IT.
THERE'S A LOT OF THINGS THAT
HAVE TO GO IN TO PLANNING
INSTITUTIONAL SUPPORT AND YOU
NEED TO BE GOOD FRIENDS SO IF
YOU HAVE A MAINTENANCE AND I.T.
DEPARTMENT MATTERS AND
MARKETING.
SOMETIMES YOU HAVE TO SHOW UP
TWO, THREE TIMES AND ANNIE DID A
GREAT JOB AND OUR JOB IS TO
SUPPORT THE COMMUNITY.
WE GO IN THERE NOT NECESSARILY
EXPECTING WE'RE GOING RESEARCH.
PEOPLE ARE REALLY INTERESTED IN
RESEARCH WE FOUND.
I THINK FOR US IT'S SHOWING
CONSISTENTLY AGAIN I MENTIONED
I'M NOT AN EXPERT IN COMMUNITY
ENGAGEMENT.
I THINK MY PRIMARY STRENGTH IN
THE PROJECT IS LISTENING AND
TRYING TO MAKE SURE WE BRING IN
PEOPLE WHO DO HAVE THAT
EXPERTISE AND WE WERE AT WEST
PALM BEACH AT A GUATEMALAN MIAN
LANGUAGE.
I'M NOT BILINGUAL.
I DON'T SPEAK SPANISH BUT MY
TEAM WAS SO I HANDED OUT PENS
WAS MY JOB ON THIS PART OF THE
TRIP.
I PUT HERE THIS IS A CAMPUS IN
ORLANDO AND THERE'S AN ALLIGATOR
HERE.
THANK YOU VERY MUCH.
I APPRECIATE IT.
>> FANTASTIC.
THANK YOU SO MUCH.
OUR LAST TWO SPEAKERS ARE
DR. ERIC RUBENSTEIN IN
EPIDEMIOLOGY AT BOSTON
UNIVERSITY AND A CORE
RESEARCHER AND A DANCER, ARTIST,
ATHLETE AND WE WILL HEAR FROM
BOTH OF THEM.
>> WE'RE PRESENTING TO TALK
ABOUT OUR RESEARCH TEAM AT
BOSTON UNIVERSITY TO CALL DOWN
SYNDROME BY THE EXPERTS.
I'LL START BY INTRODUCING MYSELF
I'M AT BOSTON UNIVERSITY.
60% OF MY WORK TIME IS SCHEDULED
TO RESEARCH AND 50% OF THAT IS
DOWN SYNDROME RESEARCH AND THEN
ON THE PERSONAL SIDE SPECIAL
OLYMPIC COACHING.
I'M TWO AND A HALF HOURS A DAY
THINKING ABOUT DOWN SYNDROME.
WHERE SOMEONE LIKE GOOSE A GIANT
EMPLOYEE I DIDN'T REALIZE UNTIL
LOOKING NOW SHE MAKES A GIANT
PRESENCE AND ATHLETIC AND DAERNS
ARTIST AND HAS DN ALL THE TIME.
I'LL LET HER INTRODUCE HERSELF
MORE FULL FLIP -- MORE FULLY.
I WANT TO TELL YOU LEEBLT ABOUT
ME.
>> I LIVE IN MARYLAND WITH MY
SISTER ANNA AND BROTHER-IN-LAW
JEFF AND TWO NEPHEWS CADEN AND
BRADEN.
I WORK AS A BAGGER AT GIANT.
IT'S A GROCERY STORE.
A FUN FACT ABOUT ME IS I USED IT
PLAY BASKETBALL FOR SPECIAL
OLYMPICS AND USE ALSO GO
BOWLING MONDAY NIGHTS AND LIKE
TO WATCH THE BACHELORETTE.
IT'S ONE OF MY FAVORITE SHOWS.
>> WE BOTH ARE OUR EXPERTISE IN
DOWN SYNDROME AND GOOSE AND I
BRING DIFFERENT PERSPECTIVES.
WHO KNOWS MORE ABOUT DOWN
SYNDROME.
AND YOU KNOW, IT'S A LITTLE
SIMPLISTIC TO SAY IT'S LIKE
YOU'RE DOCTOR DOESN'T KNOW ABOUT
YOUR KIDNEY BECAUSE IT'S IN YOUR
BODY AND WE AS SCIENTISTS CAN NO
A LOT OF THINGS BUT I'LL NEVER
KNOW WHAT IT'S LIKE TO BE GOOSE
AND SHE'LL NEVER KNOW WHAT IT'S
LIKE TO BE ME AND NEED TO WORK
TOGETHER TO BRIDGE THE GAP.
WHO KNOWS MORE?
GOOSE IS THE EXPERT.
GOOSE KNOWS EVERYTHING.
THAT GETS US TO THE POINT WE'RE
TRYING TO MAKE WITH OUR MODEL
AND WHAT WE DO IN OUR LAB AND
INCLUDE.
AS A SCIENTIFIC FIELD WE'RE
EVERY LOOKING THE FIELD OF DOWN
SYNDROME AND THEY HAVE THE LIVED
EXPERIENCE SPEAKING FOR US
WITHOUT DOWN SYNDROME WE DON'T
HAVE.
WE CAN'T HAVE.
WE HAVE THE EXPERTS AND KNOW
WHAT'S IMPORTANT TO OURSELVES
AND PEERS AND KNOW HOW TO
COMMUNICATE AND REACH OUT TO THE
COMMUNITY AND HOW DO WE GET
PEOPLE WITH DOWN SYNDROME TO
PARTICIPATE IN OUR RESEARCH.
THEY KNOW.
THEY'LL TELL US.
AND A LOT OF OUT OF THE BOX
THINKING AND SO MANY GOOD IDEAS
COME FROM THESE FOLKS.
ALSO AN ISSUE OF EQUITY AND WHY
WE NEED THEM ON RESEARCH TEAMS.
NOTHING ABOUT OUT WITHOUT US.
IF WE'RE DOING RESEARCH ON
PEOPLE WITH DOWN SYNDROME THEY
SHOULD HAVE A STAY ON WHAT IS
GOING ON.
WE REALIZE IN THE HISTORIC ABUSE
BOTH IN THE SCIENTIFIC IT
RESEARCH WORLD AND IN TERMS OF
THE STRUCTURES THAT MAKE UP THE
COUNTRIES AND THERE'S INEQUITIES
AND ABLISM AT THE BASE OF OUR
CULTURE AND WE NEED TO COMBAT
THAT AND PART IS BEING AS
INCLUSIVE EVERYWHERE AS WE CAN.
AND A LOT OF US HERE ARE MAKING
A LIVING BY TAKING MONEY FROM
THE NIH.
WHY CAN'T PEOPLE WITH DOWN
SYNDROME WORK THAT WAY AND GET
THAT RESEARCH MONEY?
WE HAVE AN ROE 1 FROM INCLUDE TO
LOOK AT ALL MEDICARE AND
MEDICAID DATA AND BORROWED THE
PHRASE FROM MARTIN LUTHER KING
WHO PROBABLY DIDN'T SAY THIS BUT
A BUDGET IS A MORAL DOCUMENT.
WE MADE SURE TO SET ASIDE THE
RESOURCES FOR WHAT WE THOUGHT
WAS RIGHT WAS INCLUSIVE,
CO-EQUITABLE RESEARCH.
IN OUR ORIGINAL GRANT WE SAID
WE'D DO AN ADVISORY BOARD.
WHEN WE STARTED TO PUT THAT
TOGETHER WE REALIZED THE
LIMITATIONS.
THERE ARE SOME REAL STRENGTHS TO
AN ADVISORY BOARD AND THEY CAN
ADVISE YOU ON THE RESEARCH
YOU'RE DOING BUT THE FLIP SIDE
OF THAT PLAY BE MORE BENEFICIAL
FOR TO US ADVISE THE PEOPLE WITH
DOWN SYNDROME ON THE RESEARCH
THEY WANT TO DO.
ALSO IT'S SOMETIMES NICE TO HAVE
A GROUP PEERS WITH DOWN
SYNDROME AND WE'RE FACILITATING.
WE HAVE INDIVIDUALS PARTICIPATE
IN ALL STAGES OF THE RESEARCH.
ORIGINALLY I WAS LIKE DON'T YOU
WANT TO USE MY GREAT INNOVATIVE
MEDICAID AND MEDICARE DATA SET
AND THEY'RE LIKE, NO, THAT'S NOT
COOL AT ALL.
WE WANT TO ASK ABOUT MENTAL
HEALTH CARE AND STRATEGIES FOR
COPING AND MY DATA DON'T HAVE
THAT.
WE DID WHAT THEY WANTED TO DO
AND IT WAS EXTREMELY SUCCESSFUL.
IT'S A NEWISH APPROACH ROOTED IN
OCCUPATIONAL THERAPY.
THAT'S WHO WE BORROW A LOT FROM
AND UW MADISON AND UNIVERSITY OF
FLORIDA AND OTHERS AND WE
STARTED WITH A SMALL PILOT IN
MASSACHUSETTS AND GOOSE WAS OUR
FIRST CO-RESEARCH ER AND WILL
TALK TO US ABOUT HER SUMMER
INTERNSHIPS SHE DOES EVERY YEAR.
>> I WANTED TO TELL YOU I SPEND
MY SUMMER IN BOSTON AND I DID --
HAD MY TWO NEPHEWS AND I MET
ERIC RUBENSTEIN AND I WORK ON
DIFFERENT PROJECTS ON MY
INTERNSHIP.
MY FIRST PROJECT WAS ABOUT BEING
HEALTHY.
I SHARED MY MESSAGE.
MY SECOND PROJECT WAS BEFORE
MENTAL HEALTH ABOUT HOW STUDENTS
NEED TO TAKE CARE OF THEIR
MENTAL HEALTH.
I DID INTERVIEWS AND ASKED
QUESTIONS.
THEN I DID A PROJECT.
>> YOU CAN'T POSSIBLY READ IT'S
OUR LOGIC MODEL FOR THE PROGRAM
WE'RE WORKING ON AN IN-HOUSE
EVALUATION AT THE MOMENT BUT OUR
GOAL AT THEN OF THE DAY IS
PERSONS WITH IDD, DOWN SYNDROME
SPECIFICALLY WILL MEANINGFULLY
ENGAGE AND CONTRIBUTE TO
RESEARCH.
THAT'S OUR GOAL.
WE HAVE ALL THESE STEPS.
WE THOUGHT IT THROUGH AND WE'RE
WORKING TO CONTINUE.
THIS IS OUR TEAM.
SEVEN ADULTS WITH DOWN SYNDROME
ALL OVER THE COUNTRY.
THREE FROM CALIFORNIA AND GOOSE
SIN MARYLAND, STACY IS IN UTAH
AND CAIDA IS IN WISCONSIN.
WE MEET ON ZOOM BECAUSE WE'RE
REMOTE AND YOU'LL GET TO MEET A
LITTLE BIT OF THEM HERE ADDS --
AS WE PUT TOGETHER A VIDEO OF
OUR GREATEST HITS.
>> I'M AN ADVOCATE, PUBLIC
SPEAKER, ACTRESS AND VALUED
EMPLOYEE.
>>
>> TO BE WHO YOU ARE AND DON'T
BE AFRAID TO OWN IT.
>> CO-RESEARCH SAY FORM OF
PARTICIPATORY RESEARCH WHERE
INDIVIDUALS WITH LIVED
EXPERIENCE IN A PARTICULAR FIELD
COLLABORATE AS EQUALS WITH
RESEARCHERS IN THE RESEARCH
PROCESS.
WE USE OUR KNOWLEDGE TO ANALYZE
DATA AND SHARE WHAT WE LEARN
WITH OTHERS.
>> THANK YOU.
SO THAT'S A LITTLE OVERVIEW OF
OUR WHOLE TEAM.
SO, WE'VE DONE TRAINING.
SO AS I MENTIONED WE USED A
CURRICULUM ADAPTED FOR OUR
PURPOSES.
THAT'S AN AVAILABLE RESOURCE I
THINK FROM A PCORI FUNDING OUT
THERE READY TO USE AND A
MENTIONED TO SOME FOLKS
YESTERDAY THERE'S A NEW ETHICS
TRAINING WHICH SORT OF IS
EQUIVALENT FOR CITY TRAINING FOR
PEOPLE WITH INTELLECTUAL
DEVELOPMENT DISORDERS DEVELOPED
BY ARIEL SCHWARTS AND KATIE
McDONALD AT SYRACUSE AND CALLED
RESEARCH ETHICS FOR ALL AND THE
IRB APPROVED THAT A PROXY FOR
CITY TRAINING AND OUR FOLKS ARE
NOW FULLY ON THE IRB.
SO GOOSE WILL TALK US THROUGH
OUR MENTAL HEALTH RESEARCH
PROJECT AND CURRENT INTERVIEW
PROJECT.
>> IN 2022 I JOINED THE TEAM.
WE HAVE PEOPLE ON THE RESEARCH
TEAM.
WE WORK TOGETHER ON RESEARCH
PROJECTS.
WE ASK RESEARCHERS QUESTIONS,
FIND ANSWERS AND SHARE WHAT WE
FIND IN OTHERS.
LAST YEAR OUR TEAM STUDIED
MENTAL HEALTH IN DOWN SYNDROME.
HOW DO PEOPLE WITH DOWN SYNDROME
TAKE CARE OF THEIR MENTAL
HEALTH?
WE MADE AN ONLINE SURVEY AND
ASKED PEOPLE QUESTION AGE, IF
THEY HAD A JOB IF THEY HAVE
STRESS AND ANXIETY AND WHAT
SKILLS THEY USE.
45 PEOPLE TOOK OUR SURVEY.
MORE THAN 80% OF THEM FELT
STR
STRESS, ALMOST 60% FELT ANXIETY
AND SAID THEY HAVE MENTAL HEALTH
ISSUES.
THIS YEAR WE ARE DOING AN
INTERVIEW TO LEARN ABOUT
INDEPENDENCE.
INDEPENDENCE MEANS HAVING A
VOICE AND MAKING DECISIONS ABOUT
MY LIFE.
I HAVE BEEN PRACTICING AND AM
LOOKING FORWARD TO LEARNING MORE
ABOUT INDEPENDENCE.
>> SO WE SHARED RESULTS FROM OUR
MENTAL HEALTH SURVEY CURRENTLY
UNDER REVIEW IN A PEER-REVIEWED
JOURNAL.
WE THINK IT'S REALLY COOL
BECAUSE TO OUR KNOWLEDGE I DON'T
THINK PEOPLE HAVE JUST ASKED
PEOPLE WITH DOWN SYNDROME TO
COMPLETE A SURVEY.
I MAY BE WRONG BUT I THINK WE'RE
THE FIRST TO HAVE PEOPLE WITH
DOWN SYNDROME ASK OTHER PEOPLE
WITH DOWN SYNDROME TO COMPLETE A
SURVEY.
A GOAL OF MINE IN THE LAST YEAR
IS TRY NOT TO ACCEPT TOO MANY
SPEAKING INVITATIONS THAT DON'T
ALSO INCLUDE A CO-RESEARCHER.
THEY HAVE AS MUCH EXPERTISE AND
THEY'RE FINDINGS ARE AS NOVEL AS
I HAVE.
WE'VE DONE A DOWN SYNDROME
WEBINAR AND DID THE ADULT SUMMIT
AND MASSACHUSETTS DOWN SYNDROME
CONGRESS AND A METHODS IN
EPIDEMIOLOGY FOR DEMENTIA
CONFERENCE AND A TON OF GUEST
LECTURERS.
SO WHAT'S NEXT FOR US BESIDES
THE INTERVIEW PROJECT WE'LL
START TALKING TO PEOPLE ABOUT
SOON?
I HOPE TO TURN IT INTO A TOOL
KIT TO GIVE TO FOLKS IN OTHER
LABS AND NOT HAVE US HAVE TO
REINVENT THE WHEEL EVERY TIME
SOMEONE WANTS TO INCORPORATE
PEOPLE WITH DOWN SYNDROME ON A
RESEARCH TEAM.
PART OF THAT IS THE COST.
SO WE'RE HOPING TO DESIGN A TOOL
KIT IF YOU WANT TO PAY EVERYONE
FAIR WAGES WOULD BE ABOUT
$10,000 PER YEAR.
WHEN YOU ACCOUNT FOR THE
RESEARCH ASSISTANT TIME IT TAKES
TO ORGANIZE WE THINK IS FAIRLY
MANAGEABLE AND PART OF THE IDEA
OF BUDGETS MATTERING.
AND WE THIS WILL WORK FOR MOST
TYPES OF INCLUDE INVESTIGATORS
OR INTELLECTUAL DISABILITY
RESEARCHERS.
THEY'RE SO MANY WAYS AND SO MANY
FIELDS THIS COMMUNITY AND
POPULATION CAN PROVIDE INSIGHTS.
>> I ENJOYED TO WHAT OTHER
PEOPLE HAVE TO SAY.
I LEARNED A LOT AND HOPE YOU
LIKE OUR TALK.
THANK YOU FOR LISTENING.
>> WE'LL GO RIGHT TO OUR WRAP UP
SESSION.
>> THIS HAS BEEN WONDERFUL.
IT'S A WONDERFUL SECTION AND YOU
GUYS DO AMAZING WORK BUT I'VE
NOTICED THAT WE'VE TALKED
PRIMARILY ABOUT INDIVIDUALS WITH
DOWN SYNDROME AND THEIR
FAMILIES.
IS IT REALLY THE DEFINITION OF
COMMUNITY OR A NARROWER DIVISION
OF COMMUNITY AND WHAT ABOUT A
LARGER DEFINITION OF COMMUNITY
THAT INCLUDES TEACHERS, OTHER
COMMUNITY MEMBERS, RELIGIOUS
LEADERS WHO ARE VERY IMPORTANT
IN MORE TRADITIONAL COMMUNITIES,
SOMEWHERE IN AFRICA OR THE
MIDDLE EAST.
ARE THE ROLES ARE DISTRIBUTED IN
A SLIGHTLY DIFFERENT WAY.
NUCLEAR FAMILY NOT REALLY SEN
TROOL COMMUNITY SUPPORT OF
PEOPLE WHO ARE SLIGHTLY
DIFFERENT.
ANY MODELS WE NEED TO DISCUSS OR
KNOW ABOUT?
>> THE COMMUNITY'S NOT A
MONOLITH.
IT'S GOING DEFEND ON WHAT
COMMUNITY YOU LIVE IN, WHAT
COMMUNITY YOU'RE WORKING WITH,
WHAT SORT OF RESOURCES THERE ARE
AND WHAT SORT OF COMMUNITY
ENGAGEMENT THERE IS.
SO IN PITTSBURGH WE HAVE
PEDIATRIC DOWN SYNDROME CENTER
AND ADULT DOWN SYNDROME CENTER
AND THOSE CARE PROVIDERS ARE
VERY INVOLVED IN THE COMMUNITY
AND ARE CONSIDERED COMMUNITY
MEMBERS.
THERE'S STATE COMMUNITIES IN
CERTAIN GROUPS OF INDIVIDUALS.
SO I THINK AGAIN IT'S VERY
IMPORTANT TO THINK ABOUT THE
COMMUNITY YOU'RE SERVING AND WHO
THEY CONSIDER PART OF THAT
COMMUNITY.
AND SO TALKING -- IT ALL GOES
BACK TO TALKING TO THESE
INDIVIDUALS AND SAYING WHERE DO
YOU GET YOUR CARE AND SUPPORT
AND WHO IS PROVIDING RESOURCES
TO YOU AND THAT LOOKS EVEN
WITHIN THE PITTSBURGH CATCHMAN
AREA.
IT'S DIFFERENT IN DIFFERENT
PARTS OF THE CITY.
IT'S A LOT OF TIME TO IDENTIFY
THESE FOLKS AND FOREIGN HAVE A
FULL SENSE OF COMMUNITY.
>> IN THE FIELD OF CHILDREN WHO
ARE DEAF AND HARD OF HEARING,
PEOPLE ARE STARTING TO LOOK AT
COMMUNITIES AND SYSTEMS.
WE WERE TALKING YESTERDAY IN THE
BREAKOUT OF TRYING TO ENCOURAGE
SOME OF THE FOLKS WHO DO LOOK AT
THOSE DYNAMICS.
I COULDN'T AGREE MORE.
AND THE QUESTION IS HOW TO DO
THAT AND THERE'S PROBABLY PEOPLE
OUT THERE THAT WE SHOULD BE
BRINGING IN TO THE COMMUNITY TO
START LOOKING AT SOME OF THOSE.
>> I PUT IN A PLUG FOR THE
PARTICIPATORY RESEARCH SO WE
HAVE AN INITIATIVE FOR THAT.
THIS WOULD FIT RIGHT UP IN
THERE.
>> I'M FROM THE UNIVERSITY OF
COLORADO.
I HAD A DENSE DEEP QUESTION
ABOUT STATES GOING INTO THE
EVOLUTION OF A.I. BUT I'LL
E-MAIL AND GOOSE IF YOU WILL
ALLOW ME, I'M MONICA AND HAVE A
QUESTION FOR YOU ABOUT YOUR
INTERVIEWS.
I WOULD LIKE TO KNOW HOW DO YOU
PREPARE FOR YOUR INTERVIEWS.
>> YOU HAVE TO BRUSH YOUR HAIR,
BRUSH YOUR TEETH AND NICE
CLOTHES AND --
>> AND WE SOMETIMES PRACTICE
BEFORE.
WHO DO WE PRACTICE WITH?
>> OH, ROBIN.
WE DO READING AND GOES FOR
WALKS.
SHE LISTENS TO MUSIC.
>> LET'S THINK OUR PANEL
PRESENTERS ONCE MORE AND HAND IT
OVER.
>> ALL RIGHT.
NOW WE'RE GOING TO MOVE INTO A
WRAP-UP WHERE WE'RE GOING TALK
ABOUT SOME SUMMARIES FROM THE
BREAKOUT SESSIONS.
JUST BEFORE THAT, I JUST WANTED
TO MENTION THAT IF YOU HAD A
QUESTION TODAY OR WANTED TO
REACH OUT TO ONE OF THE SPEAKERS
AND WASN'T SURE HOW TO DO THAT,
ON OUR FULL INVESTIGATORS'
MEETING WEBSITE WE HAVE BIOS
LISTED AND MORE INFORMATION
ABOUT THEM.
RUM CAN TRY TO CONNECT THAT WAY
AS WELL AFTER THE MEETING.
ALL RIGHT.
WE'RE GOING GET INTO THE
WRAP-UPS.
THESE ARE TOPICS WE COVERED.
WE KNOW WE DIDN'T HIT EVERY
POSSIBLE RESEARCH TOPIC BUT
WE'LL GET STARTED.
WE WANT TO THANK THE
INVESTIGATORS WHO LEAD THE
MEETINGS OR LED THE BREAKOUT
SESSIONS.
LET'S GET STARTED WITH OUR FIRST
NEURO DEVELOPMENTAL GROUP.
I WANT TO MENTION WE WANT TO TRY
TO KEEP THE SESSIONS TO FIVE
MINUTES.
SOME OF OUR GROUPS ARE GOING TO
PRESENT SLIDES BUT THEY'RE NOT
NECESSARY BUT TRY TO KEEP IT AT
THE FIVE-MINUTE MARK AND WANT TO
FOCUS ON CHALLENGES, GAPS IN THE
RESEARCH AND FUTURE DIRECTION IF
POSSIBLE.
LET'S BRING UP DR. LEIBOLD AND
DR. PATEL IF WE CAN.
>> THE NIH GROUP WILL TRY TO
CONSOLIDATE AND ANY WRITTEN
NOTES YOU HAVE WE'LL TRY TO PUT
THAT TOGETHER AND DISSEMINATE TO
THE GROUP SO DON'T WORRY ABOUT
COVERING EVERYTHING.
>> WE WERE -- I'LL DO THE FIRST
AND LINA DO THE SECOND.
WE WERE FOCUSSED ON SPEECH,
LANGUAGE AND HEARING AND SOME
BARRIERS THE GROUP IDENTIFIED
WAS PERHAPS A LACK OF
RECOGNITION OF THE IMPORTANCE OF
SPEECH, LANGUAGE AND HEARING IN
THE BROADER COMMUNITY.
THERE'S HIGH BARRIERS TO
INDEPENDENCE AND QUALITY OF
LIFE.
COMPLICATED TESTS NOT FEASIBLE
FOR USE WITH ALL INDIVIDUALS.
ONE SIZE DOESN'T FIT ALL.
WE THOUGHT ACCESSIBLE AND
FEASIBLE TESTS WERE NEEDED.
THERE'S NOT A LOT OF SCIENCE IN
THE AREA.
IS NOT AN INCLUSIVE OF EVERYONE
WITH DOWN SYNDROME AND THOSE
WITH THE LEAST ACCESS IN NEED
FOR THE MOST HELP ARE OFTEN NOT
INCLUDED OR INTEGRATED INTO
WORK.
WE OFTEN DON'T INCLUDE THE
PEOPLE WITH THE MOST COMPLICATED
HISTORIES.
ACCESSIBILITY GLOBALLY,
FEASIBILITY OF TESTS AND
RESOURCES IN TERMS OF EXPERTS IN
WHICH FIELD FOR THIS PARTICULAR
FIELD BECAUSE IT'S A LITTLE BIT
SMALLER.
REAL-WORLD OUTCOMES AND
ASSESSING A PERSON'S
SELF-DETERMINATION, WHAT THEY
WANT AND COMMUNICATION IS
CENTRAL TO THAT.
>> OKAY.
I'M GOING TO TRY TO READ THIS
WITH MY POOR VISION.
SO WHAT STRATEGIES WOULD ENHANCE
THE INTERDISCIPLINARY
COMMUNICATION AND COLLABORATION?
SPACE TO BRING PEOPLE TOGETHER.
IT HAS BEEN SUPER EXCITING TO BE
HERE AND TO HEAR THE DIFFERENT
PERSPECTIVES AND SOME OF THE
DIFFERENT BARRIERS WHEN WE'RE
THINKING ABOUT CULTURE AND WHERE
WE TALK ABOUT RESEARCH IN THE
UNITED STATES BUT EVEN HEARING
ABOUT BARRIERS TO EVEN JUST CARE
VERSUS RESEARCH IN OTHER PARTS
OF THE WORLD.
A WEDGE BETWEEN SCIENTISTS AND
CLINICIANS.
NEEDING THE CROSS COLLABORATION
MORE TO FIND WHAT CLINICIANS
FIND MORE AND WHAT EXPERTISE CAN
THEY BRING TO PROVIDE ADDITIONAL
SUPPORT.
WE TALKED ABOUT THAT DURING THE
BREAKOUT GROUP FOR COHORT
DEVELOPMENT TOO HOW CAN WE USE
CLINICIANS AS A RESOURCE FOR
BEING ABLE TO UNDERSTAND AND
CONNECT WITH FAMILIES.
ARE CONSIDERATION OF SPEECH AND
LANGUAGE OF COGNITION AND
LEARNING.
WE FELT LIKE THE NEURAL
DEVELOPMENT GROUPS SHOULD BE
TOGETHER BECAUSE LANGUAGE,
ADHERING AND COMMUNICATION
CROSSES BOTH ARENAS.
COGNITION AND EXECUTIVE FUNCTION
AND WE HAD A MORE INTENSE
DISCUSSION AROUND EVEN ACADEMIC
TESTING.
AND WE HAD SOME STRATEGIES -- WE
TALKED ABOUT THAT.
WE TALKED ABOUT NEW IT ATTORNEY
GENERALS IN A.I.
ESPECIALLY SPEECH RECOGNITION
PROGRAMS AND AAC AND HOW THOSE
MIGHT HELP COMMUNICATION.
PROBABLY A NEED TO BRING IN
EXPERTS WHO DO THAT WORK IN
OTHER POPULATIONS THAT MIGHT
HAVE COMMUNICATION OTHER
DISORDERS OF COMMUNICATION THAT
THERE ARE PEOPLE IN THOSE FIELDS
AND ENCOURAGING THEM TO GET
INVOLVED.
LOOK INTO EXISTING TOOLS AND
DEVICES.
>> FOR THE DATA CENTER AND I
WILL TELL YOU THAT THE DCC'S
REALLY OPEN TO FEEDBACK AND
THERE'S PLACES EVEN ON THE
WEBSITE WHEN YOU GO AND TRY TO
NAVIGATE IT IF YOU HAVE
QUESTIONS, THERE'S A QUICK
RESPONSE TURNAROUND FOR
QUESTIONS RELATED TO LIKE THIS
FEELS TO CUMBERSOME TO NAVIGATE
AND THOSE PERSPECTIVES ARE YEEL
IMPORTANT.
REALLY IMPORTANT AND FELT IT WAS
IMPORTANT TO LOOK AT THE CORE
DEVELOPMENTAL ASSESSMENT.
HAVING A BETTER INFORMATION OF
THE MEASURES AND TOOLS PEOPLE
ARE USING BUT THERE'S
RELIABILITY IN THE FIELD AS FAR
AS WHAT IS USED FOR
DEVELOPMENTAL ASSESSMENTS AND SO
BEING ABLE TO HARMONIZE THAT A
LITTLE BIT MORE AND THINK ABOUT
HOW A.I. COULD BE REALLY HELPFUL
IN CONSOLIDATING INFORMATION
THAT ALREADY EXISTS.
>> FINALLY CHALLENGES IN OUR
INSTITUTE FOR PROMOTING
INCLUSIVE STUDIES.
ONE OF THE CHALLENGES THAT CAME
UP IN OUR GROUP IS OUR FIELD
ITSELF IN TERMS OF RESEARCH OR
STUDENTS, TRAINEES IS NOT VERY
DIVERSE.
THIS IS A GLOBAL ISSUE IN THE
FIELD.
LOOKING AT OUTCOMES FOR
INDIVIDUALS LIVING WITH DOWN
SYNDROME IS A BIG CHALLENGE.
AND ECONOMIC BARRIERS.
I THINK THAT'S WHAT WE HAD.
THANK YOU.
>> THANK YOU FOR THAT.
OUR SECOND NEURAL DEVELOPMENT
GROUP FOCUS ON COGNITION,
REGRESSION AND ADHD.
>> OKAY.
WE HAD LIVELY CONVERSATION.
IN FACT WE HAD TO CUT SHORT SOME
OF THE CONVERSATION FOR THE
FIRST TWO QUESTIONS BUZ WE
THOUGHT WE COULD TAKE A WHOLE
HOUR WITH EACH BUT START WITH
BARRIERS TO ADVANCING
NEURODEVELOPMENT RESEARCH IN
DOWN SYNDROME AND TALKED ABOUT
THE NEED TO CONTINUE TO IDENTIFY
PSYCHO METRICALLY SOUND MEASURES
TO OF AND NOT JUST TO
CHARACTERIZE COHORTS FOR NATURAL
HISTORY REASONS BUT TO BE ABLE
TO CAPTURE WITH DEVELOPMENT
SENSITIVITY GAINS THAT MAY BE
MADE IN FUTURE CLINICAL TRIALS.
YOU CAN CONDUCT ASSET AND MOTOR
RELATED CHALLENGE AND MAKE SURE
OUR MEASURES ARE SYNDROME
INFORMED AS A HIGH PRIORITY.
WE ALSO TALKED ABOUT THE NEED
FOR UNDERSTANDING HETEROGENEITY
WITH GREATER RIGOR IN THE
POPULATION.
AND THAT THAT IS OF COURSE YOKED
IF WE WANT TO BE ABLE TO USE
MORE ADVANCED MIXTURE MODELS AND
OTHER KINDS OF APPROACHES THAT
WE NEED LARGER SAMPLES.
AND SO AS ALWAYS THE
IMPLICATIONS OF THIS POINT AND
THE DIRECTION OF NEEDING COHORTS
AND IT'S AN EXCITING MOMENT TO
BE BUILDING COHORTS AND
HARNESSING THOSE APPROACHES.
SOME OF THE THEMES AROUND BURDEN
FOR FAMILIES AS AN IMPORTANT
CONSIDERATION WHEN WE DESIGN
INTERVENTIONS AND PUT TOGETHER
BATTERIES FOR RESEARCH VISITS
WITH THE WHY'D IDEA WE WANT TO
REMOVE AS MANY BURDENS IN TERMS
OF RESOURCES THAT WE CAN FOR
FAMILIES TO ENCOURAGE
PARTICIPATION.
IN PARTICULAR WE TALKED ABOUT
INDIVIDUALS WITH DOWN SYNDROME
WHO HAVE BIOMEDICAL OR
NEURODEVELOPMENTAL COMPLEXITY
AND THEIR PARTICIPATION BECAUSE
OF THE BARRIERS AND THE
IMPORTANCE OF BEING CAUTIOUS IN
THE GENERALIZABILITY OF OUR
STUDIES WHEN WE'RE NOT
REPRESENTING A FULL RANGE OF
PRESENTATIONS IN THE POPULATION.
AND IN PARTICULAR TALKING ABOUT
SEVERE AND PROFOUND INTELLECTUAL
DISABILITY BEING UNDER
REPRESENTED IN OUR STUDIES BUT
BEING AN IMPORTANT DIMENSION
THAT IS OBSERVED IN 20% TO 30%
OF PEOPLE WITH DOWN SYNDROME AND
TALKED ABOUT THE OUTREACH AND
ENGAGEMENT THAT WOULD BE NEEDED
TO OBTAIN REPRESENTATIVE
SAMPLES.
THE PANEL THAT JUST WENT BEFORE
US WAS INSPIRING AND I HOPE THAT
WE CAN ADOPT MANY OF THOSE
APPROACHES.
IN TERMS OF ENHANCING
COLLABORATION QUICKLY.
WE TALKED ABOUT TWO TYPES OF
COLLABORATION AND COMMUNICATION
NEEDED.
COMMUNICATION WITHIN AND OUTSIDE
OF SUB FIELD.
WITHIN SUB FIELDS, CREATING MORE
OPPORTUNITIES FOR CHANNELS FOR
CROSS TALK AND SOMEBODY THOUGHT
OF A SLACK OR ANOTHER WAY FOR
RESEARCHERS ASKING SIMILAR OR
FACING SIMILAR KINDS OF ISSUES
THEY'RE TRYING TO PROBLEM SOLVE
OR BRAIN STORM WE CAN LEVERAGE
EACH OTHER'S WISDOM THROUGH
THOSE KINDS OF COMMUNICATIONS
BUT IN PARTICULAR WE TALKED
ABOUT COMMUNICATION ACROSS SUB
FIELDS AND THE NEED FOR ALL OF
US TO TRANSLATE THE MEANING OF
OUR FINDINGS TO ONE ANOTHER TO
BRIDGE COMMUNICATION TO REALLY
GET A FULL PICTURE OF THE WHOLE
PERSON AT SO MANY DIFFERENT
LEVELS OF INQUIRY.
AND THERE WAS SOME IDEAS AROUND
THE IDEA OF POTENTIALLY
REQUIRING AN NIH PROPOSALS,
LETTERS FROM OTHER NEIGHBORING
COLLEAGUES AND SUB FIELDS
ATTESTING TO THE TRANSLATIONAL
IMPORTANCE OF THE WORK BEING
DONE AND PERHAPS OPPORTUNITIES
FOR CROSS DISCIPLINARY TRAINING
SO WE CAN ALL BE EDUCATED LAY
PEOPLE IN EACH OTHER'S AREAS OF
EXPERTISE AND AN IDEA ABOUT
MATCH MAIM -- MATCH MAKING
THROUGH THE DCC AND I'LL TURN IT
OVER.
>> FOR PARADIGM SHIFTING WE
TALKED ABOUT WAYS WE COULD
CHANGE THE WAY WE SHARE DATA
WITH ONE ANOTHER.
OBVIOUSLY THE DCC COULD BE A
CENTRAL HUB FOR THAT.
AND TALKED ABOUT VALIDATION
MEASURES BETWEEN STUDIES AND
GROUPS.
AND LOOKED AT THE LARGE COHORT
INITIATIVE FROM INCLUDE IS
SOMETHING THAT'S LIKELY TO BE
PARADIGM SHIFTING.
A
>> WE TALKED ABOUT A PREVENTION
SCIENCE APPROACH WITH SOME OF
THE DISCOVERY GOING ON IN THE
MOLECULAR LEVEL THERE MAY BE
OPPORTUNITIES TO PREVENT CERTAIN
KINDS OF CASCADES THAT MAY
UNFOLD THROUGHOUT DEVELOPMENT IN
ANTICIPATORY WAYS AND CAN DO THE
SAME THING BY IDENTIFYING
TARGETS ON THE BEHAVIORAL SIDE
AND MANIFESTATIONS TO BE
ANTICIPATORY ABOUT IT.
>> AND THE COHORT STUDIES WOULD
BE INSTRUMENTAL TO UNDERSTAND
PARTICULAR INDIVIDUALS WHAT
BIOLOGICAL PROCESSES MIGHT BE
VERY IMPORTANT FOR THEM COMPARED
TO THE GENERAL POPULATION.
NEW TECHNOLOGIES, WE TALKED
ABOUT MACHINE LEARNING AND
ARTIFICIAL INTELLIGENCE TO
SCRAPE A.M.R. AND COLLECT OUR
DATA TO HELP US ALL DO OUR WORK
AND THE NEED TO TRAIN OURSELVES
AND OUR STAFF AND OUR COLLEAGUES
IN THESE METHODS OF ADVANCED
INTELLIGENCE GATHERING AND
MANIPULATION.
A COUPLE TIMES DCC CAME UP AS A
POTENTIAL INCUBATOR AND NOT ONLY
A TOOL TO CONSOLIDATE
INFORMATION BETWEEN STUDIES BUT
IN ANOTHER WAY OF GETTING US
TOGETHER MAYBE NOT PHYSICALLY
BUT IN TERMS OF MAKING
CONNECTIONS WITH RESEARCHERS
INTERESTED IN IDEAS.
WE RECOGNIZE THE CHALLENGES IN
PROMOTING INCLUSIVE CLINICAL
STUDIES AND DS CONNECT AND THE
OTHER LARGER FRAME PROGRAMS AND
THE LEVEL OF ACCESS TO DS
CONNECT WAS RAISED AS A CONCERN.
PONG WE ONLY WENT TWO MINUTES
AND 40 SECONDS OVER.
>> WE'LL MOVE ON TO THE NEXT
GROUP.
>> I THINK IVAN LEFT AND WILL DO
IT ON OUR OWN AND MAYBE MAKE UP
TIME AND WE THOUGHT WE WERE
DOING WELL UNTIL SOMEONE POINTED
OUT QUESTIONS ON THE OTHER SIDE
OF THE DOCUMENT AND THAT MADE US
AWARE WE MISSED QUITE A BIT.
I THINK IN TALKING ABOUT
BARRIERS THERE WERE TWO THINGS
THE GROUP HIGHLIGHTED.
BOTH FOR CANCER AND BIRTH
DEFECTS, OBVIOUSLY THESE ARE
PHENOTYPE DEVELOP EARLY IN THERE
WAS CONSENSUS THERE'S BEEN A
LACK OF BIRTH COHORTS TO FOLLOW
IN LIFE AND ANALYZE AND EVALUATE
WHAT PREDICTORS OF OUTCOMES MAY
LOOK LIKE.
ON THE FLIP SIZED THAT
ESPECIALLY FOR BIRTH DEFECTS THE
THOUGHT WAS THESE EVENTS HAPPEN
DURING DEVELOPMENT, OBVIOUSLY,
AND ARE PRESENT AT THE TIME OF
DELIVERY.
THERE NEEDS TO BE BETTER ANIMAL
MODELS FOR DOING THE WORK WHICH
WAS A REAL THEME THROUGHOUT THE
SESSION.
THERE'S THE BARRIER THAT WORK
HAS BEEN DONE IN MORE STRUCTURAL
BIRTH DEBTS BUT LACK OF STUDIES
IN OTHER -- DEFECTS BUT LACK OF
STUDIES IN OTHER CONDITIONS AND
IT WAS MENTIONED A COMMON
STRUCTURAL BIRTH DEFECT DISEASE
AND MORE WORK NEEDS TO BE DONE.
IN TERMS OF STRATEGIES TO
ENHANCE COMMUNICATION AND
COLLABORATION, THERE WAS
CONSENSUS IN THE ROOM THESE
INCLUDE MEETINGS PROVIDE A GREAT
OPPORTUNITY FOR BRINGING
INTERDISCIPLINARY RESEARCHERS
TOGETHER AND HEAR WHAT OTHERS
ARE DOING WITH OTHER PHENOTYPES.
WE ENCOURAGE THE NIH TO CONTINUE
TO SUPPORT THE INCLUDE MEETING.
ON THE FLIP SIDE THERE WAS A
DESIRE TO HAVE SMALLER BREAKOUTS
TO FOCUS ON SPECIFIC QUESTIONS
IS SOMETHING THAT CAME OUT.
IN TERMS OF STRATEGIES TO
ADVANCE THE FIELD, THERE WAS A
LOT OF CONVERSATION IN THE SPACE
AND ONE THEME I THOUGHT WAS
INTERESTING WAS PROMOTING GLOBAL
RESEARCH WOULD BE IMPORTANT AND
DAVID MENTIONED THIS IN THE
COHORT BREAKOUT SESSION AND OF
COURSE WE RECOGNIZE THE
CHALLENGES OF DOING THINGS ON A
NATIONAL LEVEL BUT THERE ARE
INSIGHTS THAT WE COULD LEARN
ABOUT BIRTH DEFECTS AND CANCER
FROM DIFFERENT POPULATIONS.
WE HAD A COLLABORATOR FROM
BOLIVIA TALK ABOUT INFORMING THE
INFORMATION OF THE MECHANISMS OF
CONDITIONS.
AND FINALLY, IN TERMS OF HOW THE
DATA COORDINATING CENTER CAN
SUPPORT EMERGING AREAS OF
RESEARCH, I THINK AGAIN I WANT
TO ACKNOWLEDGE WE THINK DCC IS
DOING AN AMAZING WORK BUT GOING
BACK TO HUMAN AN ANIMAL CELL
LINES COORDINATING ACCESS FOR
THOSE DOING WORK IN ANIMAL
MODELS AND BEING A TOUCH POINT
FOR ACCESSING NOVEL BIOLOGICAL
SAMPLES NOT PREVIOUSLY USED IN
THE CONTEXT OF DOWN SYNDROME.
THIS IS SOMETHING JOAQUIN AND
OTHERS ARE THINKING ABOUT BUT IN
TERMS OF OMICS, WE RECOGNIZE
GENOMICS HAVE TAKEN THE PRIORITY
OR AT LEAST MOST THE DATA THAT
HAVE BEEN GENERATED HAVE BEEN IN
THE CONTEXT OF GENOMICS.
WE NEED TO START MOVING BEYOND
THAT TO METABOLOMICS AND
METAGENOMICS IN RELATION TO THE
PHENOTYPES WE WERE INTERESTED IN
AND THE BIRTH DEFECTS OF CANCER.
WITH THAT I'LL WRAP IT UP AND
PASS IT TO THE NEXT GROUP.
>> NOW WE'LL MOVE ON TO IMMUNE
SYSTEM DYSREGULATION WITH
DR. JUAQUIN ESPINOSA.
>> WE HAD A GREAT MEETING.
WE LEVERAGED THE WORK OF OUR
WORK GROUP WE HAVE WITHIN DOWN
SYNDROME THE MEDICAL INTEREST
GROUP.
IN ANTICIPATION OF THIS WE HAD A
GROUP AND THESE ARE
RECOMMENDATIONS.
IN TERMS OF BARRIERS, AND BROAD
IMPACTS OF IMMUNE DYSREGULATION
AND MULTIPLE ASPECTS OF BIOLOGY
AND THE NEW SYSTEM IS EVERYWHERE
IN YOUR BODY AND NOT JUST IN THE
BLOOD.
THERE'S CAUSES FOR THE LANDSCAPE
BEYOND NIAID IN LOOKING FOR
NIDDK AND OTHER INSTITUTES
APPRECIATE THE IMMUNE
DYSREGULATION THAT HAVE EFFECTS.
AND SPECIMENS AND SOME OTHER
GROUP AND MORE THAN JUST LAWS
AND GOOD CLINICAL MODELS OF THE
IMMUNE REGULATION AND YOU LOOK
AT THE LITERATURE IN DOWN
SYNDROME THERE'S VERY LITTLE IN
IMMUNE DYSREGULATION AND WE
APPRECIATE THE MOUSE MODELS HAVE
STRONG IMMUNE PHENOTYPES.
BUT ALSO BEYOND ANIMAL MODELS
MAKING SURE WE'RE THINK OF OTHER
MODELS LIKE IPSC BASED MODEL.
IN TERMS OF COLLABORATION AND
PARTICIPATION, THERE WERE TWO
RECOGNIZED ONE IS THE DIVIDE
MAKING SURE WE HAVE AVENUES FOR
CONVERSATION BETWEEN THE
CLINICIANS AND THE BASIC
SCIENTISTS BUT ALSO PEDIATRIC
ADULT DIVIDE.
IN THE MEDICAL CARE SPACE
SOMETIMES AFTER THE CHILDREN AGE
OUT OF PEDIATRIC CARE THEY GET
LOST IT MAKES IT HARD TO FIND
CONTINUITY ACROSS THE LIFE SPAN
AND HAVE A MORE UNDERSTANDING OF
THE CONDITION.
TALKING ABOUT CONFERENCE.
PERHAPS IMMUNE SYSTEM
DYSREGULATION IN DOWN SYNDROME
AND BRING IN OTHER DISCIPLINES
AS WELL.
IN TERMS OF STRATEGIES TO
ADVANCE THE FIELD.
THAT'S MEANT TO BE QUIET UNTIL
YOU PROVOKE IT.
WE HAVE LITTLE INFORMATION ABOUT
THEY RESPOND TO VACCINES AND
PATHOGENS AND PARASITES.
WE DON'T KNOW.
HOW TO START COLLECTING THE DATA
BOTH THROUGH HUMAN RESEARCH AND
THROUGH ANIMAL MODELS.
AND THERE WAS ENTHUSIASM FOR THE
STUDY OF COMPOUNDS AND WE HAVE
ANTI-INFLAMMATORY PROPERTIES AND
WE'RE WORK WITH JAK INHIBITERS
AND OTHER BIOLOGICALS.
THERE'S NATURAL COMPOUNDS AND
PERHAPS A SYSTEMATIC STUDY OF
THEIR EFFECTS IN DOWN SYNDROME
WOULD BE WORTHY PURSUIT.
THERE WAS TALK OF REPURPOSING
MEDICINES IF THE SCIENCE POINTS
TO PATHWAYS WHERE MEDICINES
EXIST MAKE SURE WE'RE NOT TRYING
TO COME OUT WITH A NEW DRUG BUT
TRYING TO REPURPOSE DRUGS THAT
ALREADY EXIST.
.
IN TERMS HOW TO LEVERAGE A.I.
MACHINE LEARNING AND NEW
TECHNOLOGIES, THERE WAS AN
APPRECIATION THAT WE HAD MORE
DATA FOR THIS TO WORK AND
TRAINING DATA SETS AND THIS
SHOULD COME BOTH FROM THE HUMAN
BIO SPECIMENS AND WHAT COULD
A.I. DO FOR US?
AND THERE'S A CO-OCCURRING
CONDITION OF A FLARE AND
BIOMARKERS OF CLINICAL VALUE AND
ALSO THERE WAS TALK ABOUT USING
COMPUTATIONAL PHARMACOLOGY IF
YOU WILL TO EITHER COME OUT WITH
NEW DRUGS THAT CAN ADDRESS THE
IMMUNE PATHWAYS OR MAKE THEM
BETTER LIKE JAK INHIBITORS THAT
CON PENETRATE THE BLOOD-BRAIN
BARRIER AND A COORDINATING
CENTER.
THERE WAS TALK ABOUT COLLECTING
THE DATA FROM INTERNATIONAL
COHORTS AS A RECURRING THEME AND
WE'RE PREPARING FOR THAT AND
HAVE MENTAL MAPS THAT THIS WOULD
WORK AND THERE WAS ALSO
COMMENTARIES BEYOND THE ABILITY
TO SYNTHESIZE DATA ACROSS
COHORTS HAVE YOU DATA SETS WITH
RAPID FIRE IMPORTANT ANALYTICS
WHICH IS SOMETHING WE AGREE WITH
AND ARE WORKING VERY HARD TO
MAKE SURE THE DATA IS NOT JUST
FOR THE DATA SCIENTISTS BUT ALSO
HOW TO CODE AND MORE FRIENDLY
INTERACTIVE WAYS TO WORK WITH
THE DATA AND I'LL STOP THERE AND
NOT EXTEND MY WELCOME.
>> THANK YOU VERY MUCH.
ALL RIGHT.
NOW WE HAVE ALZHEIMER'S DISEASE.
THAT'S GOING TO BE DR. HEAD AND
DR. TOMI.
>> LAUREN HAD TO HIT THE ROAD SO
I'LL KEEP IT SHORT BECAUSE I
KNOW WE'RE GETTING LOW AND TIME
AND ALREADY WHAT WE DISCUSSED
HAS BEEN MENTION.
BARRIERS FOR AD RESEARCH IN THE
DOWN SYNDROME SPACE AND REMARKS
ABOUT CONCERNS FOR ANIMAL
MODELS.
WE HAVE GREAT ANIMAL MODELS OF
DEVELOPMENT AND GREAT
ALZHEIMER'S DISEASE MODEL AND
NOT IN BETWEEN.
WE'D LOVE TO SEE MORE AND IPSCs
WERE SEEN AS A GOOD OPPORTUNITY.
WE'VE DISCUSSED ABOUT THE
CONCERNS RELATED TO DIVERSITY
AND THE LACK OF REPRESENTATION.
WE THINK THAT COULD BE INVOLVED
BY MAKING OUR TEAMS MORE DIVERSE
AND ENCOURAGING MORE JUNIOR
PEOPLE IN THE FIELD THAT
REPRESENT DIVERSITY.
THAT'S WHERE THE R25 NOFO WOULD
BE A GOOD OPPORTUNITY.
A LOT OF PEOPLE WERE CONCERNED
ABOUT ACCESS TO HUMAN SAMPLE AND
THAT WAS RAISED BY JUAQUIN AND
THE HUMAN RESEARCHERS WE HAVE
CONCERNS ABOUT ACCESSING THE
SAMPLE.
IT'S A TWO-WAY STREET.
SOME OPPORTUNITY WE CAN SEE
WHERE THE SAMPLES ARE STORED OR
HOMED WOULD BE HELPFUL.
ANOTHER THING THAT CAME UP
RELATED TO ALZHEIMER'S DISEASE
WAS WE ACKNOWLEDGE DOWN SYNDROME
THREE CAUSES, AND WE'RE FUNDING
SOURCE TO IDENTIFY THE UNIQUE
INDIVIDUAL TO ACCELERATE OUR
DISCOVERIES.
A LOT OF THE OTHER THINGS WERE
PRETTY MUCH COVERED.
>> NOW OUR LAST GROUP.
I WANT TO THEY CAN ORGANIZERS.
IT'S A FABULOUS CONFERENCE TO BE
A PART OF.
JUST TO REFRAME A LITTLE BIT AND
I THINK MAYBE BY STARTING TO
RENAME THIS COHORT AS SLEEP,
CIRCADIAN RHYTHMS AND SLEEP
DISORDERS AND INTRODUCE THE
BROADER SLEEP RESEARCH LANDSCAPE
WE SHOULD THINK ABOUT AND SLEEP
IS A BEHAVIOR.
IT'S A PROCESS AND IT'S A
FUNCTION.
CLINICALLY WE CAN DIAGNOSIS
DISORDERS FROM CHANGES IN
BEHAVIOR AND THE RESEARCH CAN
SHED LIGHT ON THE PROCESSES AND
GIVE US THESE WINDOWS INTO WHERE
MIGHT INTERVENTION BY OPTIMIZING
SLEEP IMPROVE FUNCTION.
SO I'M NOT GOING READ EVERYTHING
ON HERE BUT TO POINT OUT THERE'S
HUGE GAPS IN OUR UNDERSTANDING
ABOUT SLEEP AND ITS ROLE IN MANY
THINGS INCLUDING EARLY
DEVELOPMENT.
SLEEP CIRCUITRY STARTS IN
INFANTRY AND DON'T KNOW HOW IT
WORKS IN DEVELOPMENTAL DISORDERS
WRIT LARGE OR IN DOWN SYNDROME
AND THAT'S A GAP AREA AND SLEEP
AND THE PROCESS THAT UNDERPINS
THIS AND MAY NOT BE REPRESENTED
AS A DISORDER AND GET THAT
THROUGH IMAGING INCLUDING EEG
IMAGING AND THAT'S VERY RELEVANT
WHEN WE TALK ABOUT BIOMARKERS
THAT MAY HELP UNDERSTAND THE
EARLIEST PROCESSES OF DEMENTIA.
SLEEP DISORDERS GETS A LOT OF
ATTENTION AND IT SHOULD AND OUR
GENERAL APPROACH HAS BEEN TO
FOCUS ON THOSE.
YOU CAN SEE THEM LISTED ON THE
RIGHT AND WHAT WE DON'T TALK
ABOUT ARE THE OTHER SLEEP
DISORDER HAVE TO DO WITH THINGS
OUTSIDE OF APNEA AND I WAS
HEARTENED BEING A NEUROLOGIST IN
THE MENTAL HEALTH INSTITUTE
LOOKING AT THE MENTAL HEALTH OF
PEOPLE WITH DOWN SYNDROME AND
THIS IS A RIPE AREA TO SPEND
TIME EVALUATING THE RELATIONSHIP
BETWEEN INSOMNIA AND MENTAL
HEALTH.
THOSE ARE GAP AREAS AND I'LL
TURN IT OVER TO MY COLLEAGUE.
>> IT'S GREAT THERE'S BEEN
INCREASING IN THIS RELATED TO
DOWN SYNDROME.
IN PEDIATRICS CHILDREN WITH DOWN
SYNDROME ARE PAVING THE WAY TO
THE NEWEST IN DIAGNOSTICS AND
THERAPIES THAT WILL TRANSLATE TO
THE REST OF PEDIATRIC.
IT'S AN EXCITING TIME.
PICKING UP ON SOME OF WHAT WAS
JUST DISCUSSED.
SOME OF THE CHALLENGES WE
IDENTIFIED ARE THERE ARE SILOS
THAT STILL EXIST.
THERE'S A NUMBER TRIALS FUNDED
AND ARE ONGOING BUT MOST ARE
FOCUSSED ON OBSTRUCTIVE SLEEP
APNEA AND IT WOULD BE GREAT TO
BROADEN THAT TO OTHER ISSUES
THAT AFFECT THE DOWN SYNDROME
COMMUNITY.
THERE'S A FAIRLY HIGH COST OF
ENTRY WHEN IT COMES TO
TECHNOLOGIES AND LEARNING THAT
NEEDS TO HAPPEN AS AN
INVESTIGATOR BUT DOESN'T HAVE TO
BE SO WITH NEWER TECHNOLOGIES
AND WANT TO BREAK DOWN BARRIERS.
AND BETTER WAYS TO SYNTHESIZE
DATA TO THE COMMUNITY INVOLVED.
IN TERMS OF ENHANCING
COMMUNICATION AND COLLABORATION.
WE IDENTIFIED LOOKING BEYOND THE
BIG CENTERS RIGHT NOW INVOLVED
AND LOOKING ACROSS DISCIPLINES.
ONE THING ABOUT SLEEP IS IT'S
INTERDISCIPLINARY COMMUNITY THAT
INVOLVES DISCIPLINES TO WELCOME
OTHER PEOPLE AND TALK TO OTHER
GROUPS MENTIONED THE MATCH
MAKING APPROACH WE DISCUSSED IN
OUR GROUP.
IN TERMS OF PARADIGM SHIFTING I
THINK IT GOES WITH NUMBER 4 WE
FEEL ARTIFICIAL INTELLIGENCE AND
MACHINE LEARNING TECHNOLOGIES
COULD BE GAME CHANGERS IN SLEEP
FOR DATA THAT CAN LEND ITSELF
AND WE HAD DISCUSSION WITH
MEMBERS HOW TO BETTER HARMONIZE
AND ANALYZE THE DATA BOTH FOR US
DOING THE INVESTIGATIONS AND THE
SECONDARY USERS.
I THINK IT'S AN EXCITING
POSSIBILITY.
THEY'VE HAD DISCUSSION IN THE
MEETING.
IT'S BEEN GREAT IN STARTING
DISCUSSIONS.
THERE'S LOTS OF DIFFERENT DATA
THAT HAVE BECOME AVAILABLE AND
PEOPLE ANALYZED IN DIFFERENT
WAYS AND IN THE CONSUMER SPACE
THERE'S NEW TECHNOLOGIES TO COME
UP WITH BEST PRACTICES.
IN TERMS OF THE DCC I MENTIONED
COMING UP WITH WAYS TO HARMONIZE
TE DATA AND THERE'S RESOURCES
AVAILABLE USING OTHER SPACES WE
CAN LEVERAGE FOR THIS KIND OF
OPPORTUNITY.
AND A TERMS OF CHALLENGES TO
HELP INCLUDE TRAINING.
SOME HAS BEEN SENT FROM OTHER
GROUPS BUT ENCOURAGING ATTENDING
MEETINGS LIKE THIS AND WE'VE HAD
PEOPLE IN THIS SPACE AND PROVIDE
BEING EARLY CAREER FUNDING FOR
SMALL GRANTS TO ALLOW SOME DATA
TO BE ANALYZED IN A SECONDARY
FASHION.
THANKS A LOT.
>> THANK YOU.
I THINK IT'S EXCITING TO SEE ALL
THE COLLABORATION OVER THIS
MEETING BETWEEN INVESTIGATORS
AND COMMUNITY BASED RESEARCH AND
WE APPRECIATE ALL YOUR INPUT AND
AS MENTIONED, OUR NIH GROUP WILL
SYNTHESIZE SOME OF THIS WRAP UP
INFORMATION AND IT WILL BE
AVAILABLE TO YOU AT SOME POINT
THROUGH OUR REPORT SO THANK YOU
VERY MUCH.
SO WE'RE GOING TO FINISH WITH
CLOSING REMARKS FROM DR. TARA
SCHWETZ LOOKING AHEAD AND THE
NEXT FIVE YEARS OF INCLUDE.
>> HI, EVERYONE.
IT'S MY GREAT YOUR TREAT FOR
HANGING ON UNTIL THE VERY END OF
THIS MEETING AS MELISSA
INTRODUCED HER BOSS YESTERDAY, I
GET TO INTRODUCE MY BOSS AND
WOULD LIKE IT INTRODUCE YOU ALL
TO TARA SCHWETZ THE NIH DEPUTY
DIRECTOR AND PRIOR TO HOLDING
THE POSITION HAS SERVED AS THE
NIH ACTING PRINCIPLE DEPUTY FOR
TWO YEARS PRIOR TO HER CURRENT
POSITION.
SHE'S LED MANY NIH RESEARCH
INITIATIVES OVER THE YEARS AND
SPENT TIME AT THE WHITE HOUSE,
OFFICE OF SCIENCE AND TECHNOLOGY
POLICY DESIGNING ARPA-H AND IT'S
CONCEPT.
SHE'S LED MANY INNOVATION
EFFORTS IN BIOMEDICAL RESEARCH
AND FORTUNATELY FOR US SHE'S
BEEN VERY INVOLVED INCLUDE FOR
THE LAST SEVERAL YEARS
CO-CHAIRING OUR STEERING
COMMITTEE ON BEHALF OF THE
OFFICE THE DIRECTOR IN
PARTNERSHIP WITH DR. BIANCHI AND
GIBBONS AND HODES AS YOU HEARD
EARLIER.
SHE'LL CLOSE IT OUT FOR US THIS
AFTERNOON.
THANKS VERY MUCH.
>> THANK YOU.
WE WERE STRATEGIC IN HAVING
FOLKS FROM OUR TEAM INTRODUCE
US.
THANK YOU NEAR INTRODUCTION.
I'M EXCITED TO BE HERE IN PERSON
WITH YOU.
I'VE BEEN WATCHING ON AND OFF
ONLINE OVER THE LAST TWO DAYS
AND GRATEFUL TO BE ABLE TO BE
HERE TO TALK TO YOU ALL A LITTLE
BIT ABOUT SOME OF THE WORK OF
INCLUDE WHICH MANY OF YOU KNOW
BECAUSE YOU ACTIVELY DO IT BUT
ALSO THINKING ABOUT SOME EFFORTS
LOOKING AHEAD.
THE WORK YOU RAUL DOING IS
INCREDIBLY INSPIRING AND ONE OF
THE PROGRAMS US AT LEADERSHIP
ARE INVOLVED IN AND I DON'T
THINK THAT IS.
AND OUR RELATIVELY NEW NIH
DIRECTOR WAS SO DELIGHTED THAT
THIS MEETING WITH YOU TODAY.
I KNOW I'M THE PERSON STANDING
BETWEEN YOU AND FLIGHTS AND
SNACKS AND COLLEAGUES AND I'LL
MAKE THIS QUICK AND HILTON A FEW
AREAS.
-- HIT ON A FEW AREAS.
AS YOU'RE AWARE SOME FINDINGS
OVER THE LAST FIVE YEARS WITH
INCLUDE OF COURSE HELP TO
ADVANCE SCIENCE ACROSS THE WORD
AND WORK TO IMPROVE THE QUALITY
OF LIFE FOR PEOPLE WITH DOWN
SYNDROME AND THIS HIGHLIGHTS THE
CALL TO ACTION AND INSPIRING
WORDS THAT DAVID EGAN SHARED
WITH US THIS MORNING ABOUT THAT
DRIVE TO ENSURE THAT EVERYONE
LIVES A HEALTHY LIFE AND THAT WE
SHOULD BE VERY INCLUSIVE IN THAT
APPROACH AND OF COURSE THOSE ARE
FUNDAMENTAL TO INCLUDE.
LET ME SEE IF I CAN ADVANCE THE
SLIDES SUCCESSFULLY.
GREAT.
I WANT TO ECHO ONE POINT BEFORE
I GET IN AND THAT IS THAT THE
INFORMATION THAT YOU HEARD
ACROSS ALL THE DIFFERENT
SESSIONS OVER THE LAST TWO DAYS
IS A SMALL SAMPLING OF ALL THE
WORK BEING DONE ACROSS INCLUDE.
WE'RE EXCITED YOU WERE ABLE TO
GATHER HERE TO SHARE IT WITH
EACH OTHER.
AND BEING LEVERAGED BY 18
DIFFERENT I.C.s.
WE HAVE A SERIES OF WORKING
GROUPS ABOUT FIVE DIFFERENT
WORKING GROUPS THAT COME
TOGETHER AND HELP TO DEVELOP
FUNDING OPPORTUNITY ANNOUNC
ANNOUNCEMENTS AND PORTFOLIO
ANALYSES.
EVERYTHING ON YOUR WEBSITE
THEY'LL HAND IN IN SOME WAY,
SHAPE OR FORM OR ORGANIZE THE
MEETING HERE TODAY.
WE ALSO INCLUDE A STEERING
COMMITTEE THAT HELPS TO GOVERN
INCLUDE AND DR. BIANCHI WAS HERE
YESTERDAY MORNING AN SERVE AS
AMBASSADORS FOR INCLUDE AND
ENSURE THE PROGRAM IS A SUCCESS.
THE BEATING HEART OF INCLUDE IS
THE LEADERSHIP TEAM WE HAVE AND
HOPEFULLY MANY OF THESE FACES
LOOK FAMILIAR AND WE PROVIDED
THOUGHTFUL INPUT AND LEADERSHIP
AND STRATEGIC VISION AND HELP US
PUSH THINGS FORWARD WITH THE
PROGRAM OVER ALL.
WHEN IT WAS ESTABLISHED THERE
WAS A GROUP AT NIH FORMED IN
2006 THAT WAS WORKING ON DOWN
SYNDROME AND PROMOTING DOWN
SYNDROME RESEARCH ACROSS THE
AGENCY.
SO INCLUDE WAS ABLE TO LEVERAGE
THIS WORKING GROUP AND THEY WERE
INVOLVED INCLUDE AND THIS
WORKING GROUP INCLUDES 24
DIFFERENT INSTITUTE, CENTERS AND
OFFICES EMPHASIZING THE
CROSS-AGENCY APPROACH TO DOWN
SYNDROME RESEARCH.
BUT ALSO THEY WORK TO HELP TO
IDENTIFY AREAS OF SCIENTIFIC
OPPORTUNITY AND HELP TO WORK
CLOSELY WITH INCLUDE TO INFORM
ALL THE EFFORTS ONGOING ACROSS
NIH.
OVER THE LAST FIVE YEARS,
INCLUDE HAS BROUGHT
INVESTIGATORS ACROSS DISCIPLINES
AND FIELDS AND WE SUPPORTED OVER
330 PROJECTS AS A PART OF
INCLUDE.
I HOPE MANY OF YOU ARE KNOW
WE'RE EXCITED TO LAUNCH THIS
SUMMER THE INCLUDE THE COHORT
DEVELOPMENT PROGRAM.
AND INCLUDE DIVERSITY OF
INDIVIDUALS WITH DOWN SYNDROME
PARTICIPATING IN CLINICAL
RESEARCH AND HELP RECRUIT
PARTICIPANT WITH DOWN SYNDROME
IN ACROSS THE LIFE SPAN IN
STUDIES TO PROVIDE ADDITIONAL
AVENUES FOR CLINICAL RESEARCH
AND DEVELOPMENT.
THERE'S TWO AREAS OF FOCUS AND
ACCESS TO CARE AND HOW TO
IMPROVE QUALITY OF LIFE.
ONE MECHANISM IN WHICH WE SEE A
LOT OF OPPORTUNITY AS MOBILE
HELP INNOVATION AND DIGITAL
TECHNOLOGIES.
BOTH OF THOSE THINGS GENERATE A
TREMENDOUS AMOUNT OF DATA AND SO
WE'LL ALSO SEE AN INCREASE
EMPHASIS ON DATA SHARING AND
DATA INTEROPERABILITY AND
HELPING BUILD UP AND STRENGTHEN
THE INCLUDE DATA HUB.
AND WAYS TO LEVERAGE A.I.
THERE'S A LOT OF OPPORTUNITY WE
SEE THERE.
HOW TO INCORPORATE THAT AS WELL
AS SOME OF THE EXISTING TOOLS
AND RESOURCES THAT WE HAVE.
AND AN IMPORTANT FACTOR OF
BUILDING UP A RESEARCH COMMUNITY
IS TRAINING EARLY STAGE
INVESTIGATORS AND PROVIDING
SUPPORT FOR CAREER DEVELOPMENT
OF VARIOUS AWARDS.
NOW INCLUDE CONTINUES TO EXPAND
ITS PRESENCE WITH THE DOWN
SYNDROME COMMUNITY THROUGH
VARIOUS DIFFERENT PARTNERSHIPS
WITH THE GLOBAL INTERNATIONAL
LEVEL AS WELL AS MORE LOCALLY.
AND WE WANT TO RECOGNIZE THE
IMPORTANCE OF FOSTERING
RELATIONSHIP WITH ADVOCACY
ORGANIZATIONS AND INDIVIDUALS
WITH DOWN SYNDROME AS WELL AS
THEIR FAMILIES.
THIS PROVIDES OPPORTUNITIES FOR
US TO NOT ONLY INCREASE
AWARENESS OF THE WORK WE'RE
DOING OF THE CLINICAL STUDIES IS
THAT HAVE AVAILABLE AND COULD
POTENTIALLY BE PARTICIPATE
INNING BUT WE CAN LEARN A LOT
FROM THEIR LIVED EXPERIENCES AS
WE HELP TO DEVELOP DIFFERENT
PROGRAMS.
THAT'S A CRITICAL COMPONENT OF
CONNECTING WITH THE COMMUNITY.
ONE OF THE OTHER ELEMENTS WE'RE
WORKING ON IS THINKING HOW TO
CONTINUE TO BOLSTER OUR
COMMUNICATIONS.
AND OVER THE NEXT 10 YEARS WE'RE
COMMITTING TO INCREASING OUR
EFFORTS AROUND INCREASING
EDUCATION AND AWARENESS OF THE
VARIOUS DIFFERENT EFFORTS THAT
ARE INVOLVED INCLUDE AS WELL AS
INCREASING THE VISIBILITY OF THE
PROGRAM OVER ALL AND A FUNDING
OPPORTUNITY ANNOUNCEMENT.
WE WANT TO MAKE SURE YOU'RE
AWARE OF POSSIBLE OPPORTUNITIES
TO APPLY FOR FUNDING AND SUPPORT
AND BUILD RELATIONSHIPS WITH THE
DOWN SYNDROME COMMUNITY.
AND THE INCLUDE PROGRAM WILL
HELP TO SHARE PROMISING FINDINGS
FROM STUDIES OVER THE YEARS OF
THE PROGRAM BEING IN EXISTENCE
WITH THE SCIENTIFIC COMMUNITY AS
WELL AS THE DOWN SYNDROME
COMMUNITY.
THIS IS THE RETURN OF AGGREGATE
RESULTS MAKING SURE THE PEOPLE
WHO PARTICIPATED IN THE STUDIES
ARE AWARE OF THE OUTCOMES.
THAT'S SOMETHING WE'VE BEEN
THINKING ABOUT MORE BROADLY AT
NIH IN RECENT YEARS.
OKAY.
THIS IS MY FINAL SLIDE EXCEPT
TAKING A MOMENT TO THANK MANY
PEOPLE BUT I WANT TO GIVE
EXAMPLES OF EXCITING NEW
RESEARCH HIGHLIGHTS HERE.
FINDINGS FROM AN INCLUDE STUDY
SHOW EVIDENCE OF JAK INHIBITION
FOR TREATMENT OF SKIN CONDITIONS
CAN IN DOWN SYNDROME.
SO I'M SURE ALL OF YOU ARE AWARE
JAK INHIBITORS REDUCE INTERFERON
MEDIATED INFLAMMATION AND THOSE
INDIVIDUALS WITH DOWN SYNDROME
HAVE SOME COMMON CONDITIONS THAT
ARE INTERFERON RELATED AND SO
THIS IS AN OPPORTUNITY TO
POTENTIALLY IDENTIFY THERAPEUTIC
TREATMENTS THERE.
AND A SINGLE CASE STUDY THAT I'M
AWARE OF WHERE THEY USE
LONG-TERM TREATMENT WITH JAK
INHIBITERS THAT HELP PROVIDE A
THERAPEUTIC BENEFIT FOR A
PATIENT WITH -- ALOE DIS --
ALOPECIA ARNATA.
AND THE FINAL THING I'LL MENTION
IS ONE MORE STUDY THAT IN
CHILDREN WITH DOWN SYNDROME IN
CO-OCCURRING ADHD FOUND THAT
THOSE CHILDREN MAY BE MORE
SENSITIVE TO THE ADVERSE EFFECTS
OF A CNS STIMULANT USED TO TREAT
ADHD.
AND OPTIMAL EXPERIENCES THAN
CHILDREN WITHOUT AND SHOWED THE
DIVERSITY OF THE DIFFERENT TYPES
OF RESEARCH GOING ON WITHIN THE
INCLUDE PROGRAM.
AND THANK YOU FOR MAKING IT OUT
TO BETHESDA AND WE'RE DELIGHTED
SUCH A LARGE GROUP THOUGH IT'S
STARTED TO TRICKLE OUT AND A
LARGE GROUP WERE ABLE TO COME
HERE REPRESENTING PHYSICIANS,
RESEARCHERS, SELF-ADVOCATES AND
MEMBERS AND HOPE IT SERVED AS A
GREAT OPPORTUNITY TO CONNECT IN
PERSON AND HELP I THINK BOLSTER
AND FOSTER YOUR ENTHUSIASM FOR
THIS AREA OF RESEARCH AND I KNOW
THAT THE WORK YOU'RE DOING IS
REALLY CRITICAL TO HELPING
UNDERSTAND THE BIOLOGY OF DOWN
SYNDROME IN CO-OCCURRING
CONDITIONS AND ONE THING MY TEAM
WANTED ME TO CALL OUT IS THE
ENTHUSIASM OF THE GROUP FOR
CALLING OUT A PROSPECTIVE COHORT
TO UNDERSTAND AND BETTER STUDY
THOSE INDIVIDUALS WITH DOWN
SYNDROME AND THAT'S SOMETHING
THAT HAS BEEN ON THE BOOKS FOR A
LITTLE WHILE WE'VE BEEN THINKING
ABOUT WITH INCLUDE SINCE THE
EARLY DAYS AND ARE STARTING TO
SEE THAT ON THE HORIZON.
FINALLY, I WANT TO TAKE A MINUTE
TO THANK ALL OF THOSE
INDIVIDUALS WHO WORKED ON THE
INCLUDE MEETING PLANNING
COMMITTEE.
WITHOUT THEM THIS MEETING WOULD
NOT HAVE BEEN POSSIBLE AND MRAB
WE CAN TAKE A ROUND OF APPLAUSE
BECAUSE THIS IS A TREMENDOUS
AMOUNT OF WORK.
THANK YOU ALL FOR THE TIME AND
ENERGY AND EFFORT THAT WENT INTO
PLANNING SUCH A SUCCESSFUL
TWO-DAY EVENT AND WITH THAT I
WILL WRAP UP AND THANK YOU ALL
AGAIN FOR BEING HERE AND SAFE
TRAVELS.