New Down syndrome patient registry allows secure storage, exchange of information

WASHINGTON — A new Down syndrome patient registry will facilitate contacts and information sharing among families, patients, researchers and parent groups.

The National Institutes of Health has awarded a contract to PatientCrossroads to operate the registry. The company has created patient-centric registries for muscular dystrophy and many rare disorders. People with Down syndrome or their family members will be able to enter contact information and health history in an online, secure, confidential database.

Uses

Registry participants will be able to customize their profile, update it online, and choose which information they would like to display, including reminders about their own medical care and general information about Down syndrome.

They also will be able to compare their own medical information to that of other registrants in a confidential and anonymous manner. 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.

Ultimately, the registry will be able to link to biorepositories of tissue samples and other resources, with the goal of making it easier for patients to take part in clinical studies for new medications and other treatments for Down syndrome.

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

Characteristics

Down syndrome most frequently results from an extra copy of chromosome 21 in the body’s cells. Infants with Down syndrome are likely to have certain physical characteristics, such as short stature and distinctive facial features, as well as health conditions like hearing loss, heart malformations, digestive problems and vision disorders.

Although Down syndrome most commonly results in mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, some individuals with Down syndrome age prematurely and may experience dementia, memory loss or impaired judgment similar to that experienced by individuals with Alzheimer disease.

Recommendations

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. Together with the Global Down Syndrome Foundation, the NICHD sponsored the Down syndrome National Conference on Patient Registries, Research Databases, and Biobanks to solicit the advice of a number 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 plan for the registry was 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 Research Plan.

Membership on the Consortium includes individuals with Down syndrome and family members, representatives from prominent Down syndrome and pediatric organizations, and members of the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research.

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