Rare Disease Report

SYNGAP Natural History Study Gets Help from NORD and the FDA

JANUARY 12, 2017
James Radke
Bridge the Gap – SYNGAP Education and Research Foundation has launched the largest-ever study to research SYNGAP1 that causes intellectual disability, speech delay, hypotonia, and linked to a spectrum of epilepsies.  
Monica Weldon, President and CEO of Bridge the Gap-SYNGAP hopes the SYNGAP1 Natural History Study Registry will provide a complete picture of each patient’s experience with SYNGAP1. Ms. Weldon said, “We are launching this initiative to help fill the missing link researchers and medical experts need to advance research and get to a cure.”
As with any natural history study, the more patients registered, the better.  “Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Weldon.
The natural history study is using electronic surveys to collect information about the patient experience and disease progression. And it can do so on a global scale.

NORD and FDA Providing Assistance

Bridge the Gap – SYNGAP Education and Research Foundation is launching the study in collaboration with the National Organization for Rare Disorders (NORD) and funding is supported by a cooperative agreement between NORD and the U.S. Food and Drug Administration (FDA).
While the data may be shared with researchers, personal identifying information will not be shared.
For more information, visit https://syngap1registry.iamrare.org

What is SYNGAP

In the video clip, Ms Weldon explains SYNGAP1 and the need for more studies to better understand this rare disease.

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