NIH Launches New Registry for Down Syndrome Patients

Posted 29 October 2012 | By

The US National Institutes of Health (NIH) has announced the establishment of a new patient registry for patients with Down syndrome, part of an effort to "facilitate contacts and information sharing among families, patients, researchers and parent groups."

The registry could eventually have powerful research applications and regulatory significance. A similar registry operated by the Cystic Fibrosis (CF) foundation has been a driving force in product development, and was an integral part of the recent approval of Vertex Pharmaceuticals' Kalydeco (ivacaftor), a targeted therapy for CF.

For now, though, the Down syndrome registry is still in its infancy. NIH said it has awarded a $300,000 one-year contract to PatientCrossroads, a company specializing in managing patient registries and genetic curation services, to get the registry up and running.

Patients will be able to enter their contact information, health history, medical care and general information into the registry, and will be able to indicate if they wish to allow clinicians or researchers to contact them to gauge their interest in participating in clinical trials.

"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," NIH explained.

"The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research," added Yvonne Maddow, director of NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHHD).

Patients with Down syndrome, who are characterized by an extra copy of chromosome 21, frequently have hearing, heart, digestive and vision problems, as well as varying levels of intellectual disabilities. NIH said it hopes that the registry will eventually allow new therapies to be developed for the relatively unique problems experienced by Down syndrome patients.


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