Our SYNGAP1 Registry Data

We aim to keep our families, scientists, and clinicians up to date on the current data being collected from our SYNGAP1 Families.  We encourage all SYNGAP1 families to participate.  Our database platform is maintained by the National Organization of Rare Disorders and was funded by the FDA – US Food and Drug Administration, whom both endorse our registry.

About Our Registry

The SYNGAP1 (MRD5) Registry and Natural History Study is a cloud-based platform maintained under the ownership of the National Organization of Rare Disorders.  Bridge the Gap – SYNGAP Education and Research Foundation stewards, oversees and provides funding to cover maintenance costs on data stored on within the NORD platform cloud.  BTG also maintains a separate Business Dropbox cloud to hold the uploaded patient profile records that can be ONLY accessed by the NHS (Natural History Study) investigators, who are HIPPA certified and IRB approved. The NORD Platform and Dropbox data clouds are covered by a Cyber Insurance Policy held by Bridge the Gap – SYNGAP Education and Research Foundation. If you have any questions, please contact us.

Email Us: Syngap1.researchteam.org

Registry Charter Mission

The role of the SYNGAP1 NHS Registry Committee is to manage on behalf of Bridge the Gap – SYNGAP Education and Research Foundation on matters relating to the SYNGAP1 (MRD5) Natural History Study including protocol development; governance structure; patient recruitment and retention; data management, sharing and analysis; and research collaborations.

OUR DATA

QUALITY OF LIFE IN PEDIATRIC PATIENTS WITH SYNGAP1-RELATED NON-SYNDROMIC INTELLECTUAL DISABILITY (NSID); DATA FROM THE SYNGAP1 (MRD5) PATIENT REGISTRY

The Bridge the Gap Education and Research Foundation, in partnership with the National Organization for Rare Disorders and support from the US Food and Drug Administration, launched the SYNGAP1 (MRD5) patient registry in 2017. The registry contains 13 surveys covering diagnostics, disease, treatment, care management, and quality of life. As of December 2018, 105 patients have provided data for 717 survey submissions.
The pediatric quality of life survey has 62 respondents and questions that cover the impact of the disease on the participant’s life in the 4 weeks preceding their responses. Respondents in the survey were less than 18 with a median age of 4 years at diagnosis (mean of 5.18 years), 61% (38/62) female, and mostly resided in the US (56%, 35/52).

UNDERSTANDING DISEASE AND BURDEN IN SYNGAP1-RELATED NON-SYNDROMIC INTELLECTUAL DISABILITY (NSID) PATIENTS USING A PATIENT REGISTRY DATABASE

Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual disability, and additional symptoms that are common with other causes. As such, confirmation of SYNGAP-related NSID is through genetic testing. To improve awareness and understanding of SYNGAP-related NSID and better inform treatment development, the Bridge the Gap Education and Research Foundation, in partnership with the National Organization for Rare Disorders and support from the US Food and Drug Administration, launched the SYNGAP1 (MRD5) patient registry in 2017. Here, we describe patient demographics, diagnoses, and quality of life in registry patients.

UNDERSTANDING DEMOGRAPHICS AND DIAGNOSIS IN SYNGAP1 RELATED NON SYNDROMIC INTELLECTUAL DISABILITY (NSID) PATIENTS USING A PATIENT REGISTRY DATABASE

SYNGAP1 NSID is thought to result from limited functional levels of SynGAP protein, a protein critical in proper brain development and function. Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual disability, and additional symptoms that are common with other causes. As such, confirmation of SYNGAP related NSID is through genetic testing. To improve awareness and understanding of SYNGAP related NSID and better inform treatment development, the Bridge the Gap Education and Research Foundation, in partnership with the National Organization for Rare Disorders and support from the US Food and Drug Administration, launched the SYNGAP1 (MRD5) patient registry in 2017. Here, we describe patient demographics and diagnoses.

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