NIH announces registry for individuals with Down syndrome

Dec 12, 2012 at 3:00 p.m. ET

The Down syndrome community is celebrating the recent announcement that the National Institutes of Health (NIH) has awarded a contract to PatientCrossroads to create and operate a registry for individuals with Down syndrome (Ds).

”The new registry provides an important resource to individuals with Down syndrome and their families,” said Yvonne T. Maddox of NIH, in a press release. Maddox is deputy director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (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,” she said.

“This is a very exciting development,” said Sara Weir, vice president, Advocacy & Affiliate Relations for the National Down Syndrome Society (NDSS).

Weir said a primary benefit to establishing the registry will be patients’ access to research and clinical trials. “We often hear from drug companies and academics [who are] interested in researching Down syndrome but it’s hard to find a patient,” she said.

How it works

People with Ds, or their family members, will be able to enter contact information and health history in an online, secure, confidential database, NIH said. Registry participants may customize their profile, update it online and choose which information to display, including reminders about their own medical care. They also will be able to compare their own medical information with that of other registrants in a confidential and anonymous manner.

“Collecting detailed disease history directly from Down syndrome families will allow researchers and drug companies to better understand Down syndrome from the patient perspective,” said PatientCrossroads CEO Kyle Brown, who founded the company in 2004.

“Portions of the collected data will be shared with the NIH Global Rare Diseases Registry database in hopes of discovering non-obvious links between Down syndrome and rare diseases.”

If a participant gives permission to be contacted, clinicians and researchers who are authorized to access the database will be able to contact these individuals to see if they are interested in participating in a research study.

Beyond a cure

Encouraging news

Terri’s 7-year-old daughter, Kelsey, has Down syndrome. “I am in full support of the NIH Down syndrome repository,“ Terri said. “I think it is important for there to be a place where information about people with Ds can be recorded so that when researchers are looking for data, they can be found.”

“Research isn’t just about finding a cure but very much working for new therapies to help [people with Ds],” Weir said. “Some of our younger families are very interested in research and… [for example] the latest therapy that will help [their children] learn to read quicker.”

Development of a patient registry was a leading recommendation in the 2007 NIH Down Syndrome Research Plan, which sets goals and objectives for the Down syndrome research field.

“More and more, we’re learning the scientific links between Down syndrome and Alzheimer’s,” Weir said. “The Down syndrome registry will enable some scientific advances in Alzheimer’s and Down syndrome.”

Teamwork on Capitol Hill

Demonstrating the bipartisan support for the registry, Weir said members of the Congressional Down Syndrome Caucus (CDSC) were instrumental in advocating for the funding, in particular: Congresswoman McMorris Rodger (R-Wa.), Congressman Van Hollen (D-Md.), Congressman Pete Sessions (R-Texas) and Delegate Holmes Norton (D-D.C.)

According to Rodger’s website, the CDSC exists to educate members of Congress and their staff about Down syndrome. “The Caucus will support legislative activities that would improve Down syndrome research, education and treatment and promote public policies that would enhance the quality of life for those with Down syndrome,” the site says.

Much needed funding

In October 2012, the Down Syndrome Research and Treatment Foundation provided an update on Ds research and noted disproportionate federal funding compared with other major diseases and conditions.

NIH's announcement will fund $300,000 toward the registry's first year.

About PatientCrossroads

PatientCrossroads’ contract, which will support the creation of the registry through September 2013, received $300,000 in funding from NIH for its first year.

“This project is an important step to realizing the PatientCrossroads’ vision of openly accessible, patient-provided data to accelerate discoveries in neglected disease,” said PatientCrossroads’ CEO Brown.

“[PatientCrossroads] has a phenomenal track record of working with other conditions and diseases to get their registries off the ground,” said Weir of NDSS. “We’re pleased NIH is providing this initial funding and will involve organizations like NDSS through the National Down Syndrome Consortium.”

The registry is expected to launch in 2013.

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The truth about my child with Down syndrome
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