Studies how STXBP1 and SYNGAP1 gene disorders affect development and seizures
Observes people with STXBP1 or SYNGAP1 disorders, tracking development, seizures and quality of life.
Plain-language title generated from the registry record
Registry title: STXBP1 and SYNGAP1 Related Disorders Natural History Study
Key facts
- Where
- Aurora, Houston, New York, Palo Alto, and Philadelphia, United StatesSee the 5 sites
Where in United States
- Children's Hospital ColoradoAurora, United StatesTaking people
- Texas Children's HospitalHouston, United StatesTaking people
- Weill Cornell MedicineNew York, United StatesTaking people
- Stanford Medicine Children's HealthPalo Alto, United StatesTaking people
- The Children's Hospital Of PhiladelphiaPhiladelphia, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Children's Hospital of Philadelphia
- Trial code
- NCT06555965
- Record updated
- 29 October 2025
- Original description
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.Read full original descriptionShow less
STXBP1 and SYNGAP1 Related Disorders (RD) Natural History Study
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.
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 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; Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing; 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 clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.