Academic Research Institution Data Request
“Registries for Rare Diseases: Involve the Patient” was Originally published on Medscape Rare Diseases as part of the NORD and Medscape Editorial Collaboration.
~Marshall L. Summar, MD
The SYNGAP1 (MRD5) Registry collects disease-specific natural history data about individuals with SYNGAP1 to improve the understanding of SYNGAP1 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 (MRD5) Natural History Study and Registry data for a research project, please contact our registry administrator at syngap1.research@syngap1foundation.org.
Accessing the SYNGAP1 (MRD5) data is contingent upon project approval by the SYNGAP1 (MRD5) Registry Advisory Committee (SRAC).