National Institutes of Health Establishes First National Patient Registry for Individuals with Down Syndrome
Global Down Syndrome Foundation support key to registry and increased focus on Down syndrome research
DENVER — The first national Down syndrome patient registry to be housed at the Eunice Kennedy Shriver National Institute of Child Health and Human Development was spearheaded by the Global Down Syndrome Foundation with support from many organizations, including those on the National Institutes of Health (NIH) Down Syndrome Consortium.
The national registry will collect much needed medical information from people with Down syndrome, and connect people with Down syndrome and their families with scientists engaging in research that is of interest to those people and their families. The registry will be used to identify critical health trends, the most effective treatments and clinical trials for potential therapies.
The National Institutes of Health has awarded a $300,000 contract to PatientCrossroads to jump-start and operate the registry through September 2013. People with Down syndrome or their families will be able to enter and update contact information and health history in an online, secure, confidential database. Participants can choose which information they would like to display, receive reminders about their own medical care and compare their medical information to that of other registrants confidentially and anonymously.
Those who give permission may be contacted by authorized clinicians and researchers to see whether they are interested in joining a research study.
“This is so important to get even a baseline on health issues associated with Down syndrome,” said Michelle Sie Whitten, Executive Director of the Global Down Syndrome Foundation. “Clearly other conditions and diseases have registries and biobanks, and our community deserves the same. The advantage of being late to the table is that we have put lots of best-practice protections in place to benefit people with Down syndrome and their families. Clearly if implemented and supported appropriately, this will be a huge game-changer regarding health outcomes for our children and adults with Down syndrome.”
In 2010 the NICHD and Global Down Syndrome Foundation co-sponsored the first Down Syndrome National Conference on Patient Registries, Research Databases, and Biobanks to solicit the advice of experts from the advocacy community, federal agencies, industry, and the clinical and research communities on how best to establish a Down syndrome registry.
“The new registry provides an important resource to individuals with Down syndrome and their families,” said Yvonne T. Maddox, deputy director of the NICHD, which is funding the registry. “The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research.”
“Down syndrome is complex,” Dr. Maddox said. “A wide array of scientific expertise is required to address all its aspects in a comprehensive manner.”
“We’re grateful to those who provided us with the advice that allowed us to establish a national registry,” Dr. Maddox continued. “We are happy that this important step in furthering research on Down syndrome has been accomplished and hope that many families will take advantage of the opportunity to sign up as soon as the registry goes online.”
The plan for the registry evolved from the 2010 NICHD-Global Down Syndrome Foundation conference and is supported by the public-private Down Syndrome Consortium, which was established by the NIH in 2011 to foster the exchange of information on Down syndrome research, and to implement and update the 2007 NIH Down Syndrome Research Plan.
About the Global Down Syndrome Foundation
The Global Down Syndrome Foundation is a public nonprofit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Formally established in 2009, the Foundation’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the U.S. committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. The Foundation organizes the Be Beautiful Be Yourself Fashion Show -- the single-largest annual fundraiser benefiting people with Down syndrome. Programmatically, the Foundation organizes and funds many programs and conferences, including the Dare to Play Football and Cheer Camps, Global Down Syndrome Educational Series, and Global Down Syndrome Multi-Language Resource Project. The Foundation is an inclusive organization without political or religious affiliation or intention.
About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; intellectual and developmental disabilities; and medical rehabilitation. For more information, visit the Institute’s website at http://www.nichd.nih.gov/.
About the National Institutes of Health (NIH)
NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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