Natural history study of STXBP1 and SYNGAP1 related disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.