STXBP1 and SYNGAP1 Related Disorders Natural History Study
Recruiting
Observational Study
Genetic Disease
STXBP1 Encephalopathy With Epilepsy
SYNGAP1-Related Intellectual Disability
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 600 (estimated)
- Sponsor
- Children's Hospital of Philadelphia · Other
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About This Trial
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clini…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Male or female of any age.
* Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Conf…
Contacts