Academic Research Institution Data Request

SYNGAP1(MRD5) Natural History Study and 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.

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).

Participate in Research

  • SYNGAP1 MRD5 Data Application

    The SYNGAP1 MRD5 Data Application serves as a critical gateway for researchers, clinicians, and institutions seeking access to valuable data related to SYNGAP1 (also known as MRD5), a rare genetic disorder. This application facilitates the responsible sharing of clinical and natural history data, fostering collaboration and advancing our understanding of SYNGAP1.

    SYNGAP1 (MRD5) Data Application

  • Sharing Agreement for The Transference of Clinical Data

    The Data Sharing Agreement (DSA) outlines the terms and conditions governing the sharing of data between parties involved in research, clinical studies, or collaborative projects. By formalizing data exchange, the DSA ensures transparency, privacy, and responsible use of sensitive information.

    Data Sharing Transfer Agreement

  • Data Access Policy for SYNGAP1 (MRD5) Natural History Study Registry

    The SYNGAP1 Foundation’s SYNGAP1 (MRD5) Natural History Study Registry Advisory Board Committee (referred to as the “Committee”) plays a crucial role in governing and administering the online registry. To ensure participant privacy and maintain the integrity of data submitted to the study, the Committee diligently follows both government and scientific guidelines.

    Data Access Policy

Supporting Our SYNGAP1 Community

At the SYNGAP1 Foundation, we understand the challenges faced by patients and their families dealing with SYNGAP1. Our mission is to provide a supportive network, reliable information, and a sense of community. Whether you’re a parent, caregiver, or individual with SYNGAP1, you’re not alone.