Natural history study of STXBP1 and SYNGAP1 related disorders
STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study
This study is trying to learn more about STXBP1 and SYNGAP1 related disorders by collecting information from participants over five years to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 5 sites (Palo Alto, California and 4 other locations) |
| Trial ID | NCT06555965 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather detailed information about STXBP1 and SYNGAP1 related disorders, which are genetic conditions affecting brain synaptic transmission. Participants will undergo up to 10 study visits over five years, involving health assessments, EEGs, and evaluations of developmental and behavioral functions. The primary goal is to define the clinical spectrum of these disorders to inform future clinical treatment trials. The study will also assess changes in neurodevelopmental parameters and the overall burden of disease.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a confirmed STXBP1 or SYNGAP1 gene mutation classified as causative.
Not a fit: Patients with mutations in other genes contributing to neurodevelopmental disabilities or significant non-STXBP1/SYNGAP1 related impairments may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and targeted treatments for patients with STXBP1 and SYNGAP1 related disorders.
How similar studies have performed: While this study is focused on natural history, similar studies in genetic disorders have shown success in defining clinical outcomes and informing treatment strategies.
Eligibility criteria
Show full inclusion / exclusion 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. 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 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.
Where this trial is running
Palo Alto, California and 4 other locations
- Stanford Medicine Children's Health — Palo Alto, California, United States (Recruiting)
- Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
- Weill Cornell Medicine — New York, New York, United States (Recruiting)
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Texas Children's Hospital — Houston, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Ingo Helbig, MD — Children's Hospital of Philadelphia
- Study coordinator: Joeylynn Nolan, RRT NPS AE-C
- Email: COYNEJ@chop.edu
- Phone: 2674411813
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.