STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study
Children's Hospital of Philadelphia
Summary
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 clinical care.
Description
STXBP1 and SYNGAP1 related disorders are genetic disorders that cause differences in the synaptic transmission of the brain. Disease-causing variants in these genes lead to a spectrum of developmental delay that is most often severe, epileptic encephalopathies, and complex behavioral and psychiatric disorders. As there are multiple targeted therapies in development for these conditions, there is an urgent need to push forward a prospective natural history study in order to define specific disease outcomes in these genetic conditions. Participation may last up to five years and will involve up…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory. Exclusion Criteria: * The presence of a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to contribute to a neurodevelopmental disability. This includes full gene delet…
Interventions
- OtherNon-interventional study
There is no planned intervention in this study
Locations (5)
- Stanford Medicine Children's HealthPalo Alto, California
- Children's Hospital ColoradoAurora, Colorado
- Weill Cornell MedicineNew York, New York
- The Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania
- Texas Children's HospitalHouston, Texas