The world's largest SYNGAP1 Patient Registry and Natural History.

SYNGAP1 Patient Registry is a research project that aims to study the SYNGAP1 gene changes that are associated with intellectual disability, epilepsy, autism, and other overlapping symptomology and neurodevelopmental disorders.

Participants Can:

  • Learn about their family member’s diagnosis
  • Partner with some of the best minds in science
  • Get updates on the latest research findings
  • Connect with others who share their diagnosis
  • Contribute to advancements that will change the future for families with SYNGAP1 gene changes.
  • SYNGAP1 Patient Registry is a research project that aims to study the SYNGAP1 gene changes that are associated with intellectual disability, epilepsy, autism, and other overlapping symptomology and neurodevelopmental disorders.

Academic Research Institution Data Request

The SYNGAP1 Patient Registry collects disease-specific natural history data about individuals with SYNGAP1-related Disorders to improve the understanding of SYNGAP1-related Disorders and inform treatment development. Registry questionnaires were built from common data element standards and cover the following topics, among others:

  • Medical and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life

If you want access to the SYNGAP1 Patient Registry data for a research project, please contact our registry administrator at syngap1.research@syngap1foundation.org.

Accessing the SYNGAP1-related Disorders data is contingent upon project approval by the SYNGAP1 Registry Advisory Committee (SRAC).

Pharmacutical and Biotech Data Request

More Information Coming Soon

Neuron