Actively Recruiting
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Led by Children's Hospital of Philadelphia · Updated on 2025-10-29
600
Participants Needed
5
Research Sites
278 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Philadelphia
Lead Sponsor
S
STXBP1 Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female of any age
- Presence of a STXBP1 or SYNGAP1 gene mutation classified as causative based on clinical and variant criteria
- Historical documentation of the gene mutation is sufficient for eligibility
- Confirmatory testing may be performed at baseline by a certified laboratory
You will not qualify if you...
- Confirmed mutation in a gene other than STXBP1 or SYNGAP1 known to cause neurodevelopmental disability
- Full gene deletions including other genes beyond STXBP1 or SYNGAP1
- Significant central nervous system impairment or behavioral disturbance unrelated to STXBP1 or SYNGAP1 that would affect study results
- History of intraventricular hemorrhage, structural brain defect, or congenital heart disease
- Clinical comorbidity that could confound typical presentation of these disorders
- Pregnant women or females of childbearing age found to be pregnant by urine test
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 5 locations
1
Stanford Medicine Children's Health
Palo Alto, California, United States, 94304
Actively Recruiting
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80011
Actively Recruiting
3
Weill Cornell Medicine
New York, New York, United States, 10065
Actively Recruiting
4
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19403
Actively Recruiting
5
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
J
Joeylynn Nolan, RRT NPS AE-C
CONTACT
V
Victoria Chisari, BA, NS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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