Status:
RECRUITING
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Lead Sponsor:
Children's Hospital of Philadelphia
Collaborating Sponsors:
STXBP1 Foundation
Conditions:
Genetic Disease
STXBP1 Encephalopathy With Epilepsy
Eligibility:
All Genders
Brief 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 obje...
Detailed 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...
Eligibility Criteria
Inclusion
- 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
- 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 deletions of STXBP1 or SYNGAP1 that include other genes beyond STXBP1 or SYNGAP1.
- The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study.
- History of intraventricular hemorrhage, structural brain deficit or congenital heart disease
- The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.
- Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.
Key Trial Info
Start Date :
August 30 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 30 2028
Estimated Enrollment :
600 Patients enrolled
Trial Details
Trial ID
NCT06555965
Start Date
August 30 2023
End Date
December 30 2028
Last Update
October 29 2025
Active Locations (5)
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1
Stanford Medicine Children's Health
Palo Alto, California, United States, 94304
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80011
3
Weill Cornell Medicine
New York, New York, United States, 10065
4
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19403