yvonne maddox: the importance of down syndrome research and community involvement

7/27/2019 Yvonne Maddox: The Importance of Down Syndrome Research and Community Involvement

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Yv onne T. Ma dd ox , Ph.D.

De pu t y Dire c t o r

E u n i c e K e n n e d y S h r i v e r N a t i o n a l I n s t i t u t e o f C h i l d H e a l t h a n d H u m a nD e v e l o p m e n t

J u l y 1 8 , 2 0 1 3

G l o b a l D o w n S y n d r o m e F o u n d a t i o n R e s e a r c h a n d M e d i c a l C a r e

R o u n d t a b l e

D e n v e r , C o l o r a d o

DOWN SYNDROME RESEARCH: ROLE OFTHE COMMUNITY


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Introduction

Thank you for the honor of presenting Appreciate all of the many stakeholders who are here Down syndrome research is at an exciting stage John Langdon Down reported its clinical description in 1866 ; Ds

association with a chromosomal abnormality was confirmed by JeromeLejeune et al. in 1959

A newVision for Down syndrome research has been formulated by thebasic science and animal studies

Partnerships from many sectors: Government, academia, industry andadvocacy organizations are playing a critical role

There are many challenges for researchers, clinical investigators and theDown syndrome community

Champions for Ds Research are educated and sharing in the challenge


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Some

ResearchBenefitsfor People

with Ds

The advent of antibiotics, heartsurgery and specialized medicalcare have improved early survival

and longevity for most peoplewith Ds

Medical and educational advanceshave depended on scientificevidence and social change

Evidence-based therapies andeducational approaches arehelping young people with Ds

today achieve more than everbefore


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RecentAdvances

in DownSyndromeResearch

Identification of new compounds thatmay act on the brain in ways thatcould improve mental function (e.g.GABA receptor antagonists, betaadrenergic receptor agonists)

Represents years of investigations thatnow make senseViable mouse model for Down

syndrome

Model shows pharmaceuticalcompounds can improve learning andmemory


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Challengesin

ConductingDownSyndrome

Research

Ts65Dn mice are not humans withDs; treatments in mice may not have

same effects in people The few pharmaceutical therapies that

have been evaluated in humans havenot been very encouraging, but we are

hopeful about new onesWe need to move forward cautiously;

pharmaceuticals that may improvecognition, dementia and other

nervous system and brain functionscould have serious side effects

We need to evaluate all potentialtherapies in humans


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DS Affiliates in Action

American Academy of Pediatrics

Assoc. of Univ. Centers on Disabilities

DS Medical Interest Group

DS Research and Treatment Foundation

Special Olympics

NIH DS Working Group

Amer. Association on Intellectual and Developmental Disabilities

National DS Congress

Self-Advocate

Global DS Foundation

National DS Society

Research DS

Down Syndrome (DS) Consortium: SettingResearch Priorities


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DS-Connect: The NIH Down SyndromeConsortium Registry

Idea for a registry emerged from two 2010 meetingsidentifying important research resources

Supported by the Ds Consortium membership

Contract awarded in September 2012 to PatientCrossroads

Purpose: to facilitate information sharing amongfamilies, individuals with Ds, researchers, and

parents groups Tapping into the collective voice of individuals and

families will improve our understanding about the

condition and research participation


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DS Connect (2)

Contact information and health history can beentered in an online, secure, confidential database

Registry participants can customize their profile,update it online, and choose the information theywould like to share

With permission from participants, clinicians andresearchers who are authorized to access the

database can contact the Registry Coordinator aboutrecruitment in appropriate research studies


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DS-ConnectRegistry: AClinical TrialsRecruitment

Resource andEvaluationTool

Recruitment and retention issuesinclude access to large cohorts,

which are sustained

Trials will take time and funding Substantial challenges in

developing assessments that arereliable and sensitive enough todemonstrate treatment effects

Outcome measures must relate toimprovements in quality of life

The Down syndrome communitymust be involved in helping torecruit and in setting these goals


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Importanceof theDown

SyndromeCommunitytoBiomedical

Research

Families, self-advocates, caregiversmust encourage recruitment

Researchers play a crucial role inproviding clear and balancedinformation about this research tofamilies and people with Ds

Researchers, clinicians and otherprofessionals have a responsibility toprovide accurate information and tobe cautious about stating the eventualbenefits that a trial may bring without

supporting data

Need a team effort with researchers,clinicians, people with Ds and theirfamilies working together


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Goals for Ds

Research Immediate goalsLaunch the registryUpdate the NIH Research

Plan on Down Syndrome

Support more clinical trials


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Goals for Ds

Research

Ongoing goalsInvolve more families,

clinicians, and scientists in DsResearch

Use research to inform parentsand families about the latestresearch-supported facts

Improve the lives of children,adolescents, and adults livingwith Ds


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yvonne maddox: the importance of down syndrome research and community involvement

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