STXBP1 and SYNGAP1 Related Disorders Natural History Study
Recruiting · NCT06555965 · Observational (researchers observe without assigning treatment) · Lead sponsor: Children's Hospital of Philadelphia
View the official record on ClinicalTrials.gov →Interventions studied
Non-interventional study
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.
Who can take part
Age range
No age limits stated
Sex
All (male and female)
Healthy volunteers
No - a diagnosis or condition is required
Phase
Not specified
Study type
Observational (researchers observe without assigning treatment)
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 it is running
5 locations listed across 5 US states.
- Stanford Medicine Children's Health - Palo Alto, California, United States
- Children's Hospital Colorado - Aurora, Colorado, United States
- Weill Cornell Medicine - New York, New York, United States
- The Children's Hospital of Philadelphia - Philadelphia, Pennsylvania, United States
- Texas Children's Hospital - Houston, Texas, United States