STXBP1 and SYNGAP1 Related Disorders Natural History Study (NCT06555965)
🩺 Plain-English Summary (8th-Grade Level)
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 join: To join this study, participants generally need to meet the listed inclusion criteria (2 items) and avoid the listed exclusions (6 items).
Location: Stanford Medicine Children's Health — Palo Alto, California
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistCheck every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).
Usually NOT eligible if any of the following apply:
- 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.
🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.
📍 All Participating Trial Locations (5 Sites)
- Stanford Medicine Children's Health — Palo Alto, California
- Children's Hospital Colorado — Aurora, Colorado
- Weill Cornell Medicine — New York, New York
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania
- Texas Children's Hospital — Houston, Texas
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.