DOWN SYNDROME RESEARCH: ROLE OF THE COMMUNITY

Yvonne T. Maddox, Ph.D. Deputy Director

Eunice Kennedy Shriver National Institute of Child Health and Human Development July 18, 2013 Global Down Syndrome Foundation Research and Medical Care Roundtable Denver, Colorado

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 Jerome Lejeune et al. in 1959 A new Vision for Down syndrome research has been formulated by the basic science and animal studies Partnerships from many sectors: Government, academia, industry and advocacy organizations are playing a critical role There are many challenges for researchers, clinical investigators and the Down syndrome community Champions for Ds Research are educated and sharing in the challenge

Some Research Benefits for People with Ds

The advent of antibiotics, heart

surgery and specialized medical care have improved early survival and longevity for most people with Ds Medical and educational advances have depended on scientific evidence and social change Evidence-based therapies and educational approaches are helping young people with Ds today achieve more than ever before

 Identification of new compounds that

Recent Advances in Down Syndrome Research

may act on the brain in ways that could improve mental function (e.g. GABA receptor antagonists, beta adrenergic receptor agonists) Represents years of investigations that now make sense Viable mouse model for Down syndrome Model shows pharmaceutical compounds can improve learning and memory

 Ts65Dn mice are not humans with

Challenges in Conducting Down Syndrome Research

Ds; treatments in mice may not have same effects in people The few pharmaceutical therapies that have been evaluated in humans have not been very encouraging, but we are hopeful about new ones We need to move forward cautiously; pharmaceuticals that may improve cognition, dementia and other nervous system and brain functions could have serious side effects We need to evaluate all potential therapies in humans

Down Syndrome (DS) Consortium: Setting Research Priorities

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 Research DS National DS Congress Self-Advocate Global DS Foundation National DS Society

Amer. Association on Intellectual and Developmental Disabilities NIH DS Working Group

DS-Connect: The NIH Down Syndrome Consortium Registry

Idea for a registry emerged from two 2010 meetings

identifying important research resources Supported by the Ds Consortium membership Contract awarded in September 2012 to Patient Crossroads Purpose: to facilitate information sharing among families, 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

DS Connect (2)
Contact information and health history can be

entered in an online, secure, confidential database Registry participants can customize their profile, update it online, and choose the information they would like to share With permission from participants, clinicians and researchers who are authorized to access the database can contact the Registry Coordinator about recruitment in appropriate research studies

 Recruitment and retention issues

DS-Connect Registry: A Clinical Trials Recruitment Resource and Evaluation Tool

include access to large cohorts, which are sustained Trials will take time and funding Substantial challenges in developing assessments that are reliable and sensitive enough to demonstrate treatment effects Outcome measures must relate to improvements in quality of life The Down syndrome community must be involved in helping to recruit and in setting these goals

 Families, self-advocates, caregivers

Importance of the Down Syndrome Community to Biomedical Research

must encourage recruitment Researchers play a crucial role in providing clear and balanced information about this research to families and people with Ds Researchers, clinicians and other professionals have a responsibility to provide accurate information and to be cautious about stating the eventual benefits that a trial may bring without supporting data Need a team effort with researchers, clinicians, people with Ds and their families working together

Goals for Ds Research

Immediate goals
Launch

the registry Update the NIH Research Plan on Down Syndrome Support more clinical trials

Goals for Ds Research

Ongoing goals
Involve

more families, clinicians, and scientists in Ds Research Use research to inform parents and families about the latest research-supported facts Improve the lives of children, adolescents, and adults living with Ds

Questions???