STXBP1 and SYNGAP1 Related Disorders Natural History Study

Launched by CHILDREN'S HOSPITAL OF PHILADELPHIA · Aug 13, 2024

Keywords

ClinConnect Summary

The STXBP1 and SYNGAP1 Related Disorders Natural History Study is a research project aimed at learning more about two specific genetic conditions: STXBP1 Encephalopathy with Epilepsy and SYNGAP1-Related Intellectual Disability. The goal of this study is to gather detailed information on how these disorders affect development, seizures, and quality of life. This information will help researchers prepare for future clinical treatment trials, which could lead to better management options for those with these conditions.

Anyone can participate in the study, regardless of age or gender, as long as they have a confirmed mutation in either the STXBP1 or SYNGAP1 genes. Participants will go through assessments that are part of their routine medical care, including evaluations of their development and seizure activity. It's important to note that individuals with certain other medical conditions or specific types of gene mutations will not be eligible for this study. Overall, participating in this trial could contribute to a better understanding of these genetic disorders and help improve care for future patients.

Gender

ALL

Eligibility 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.