Epilepsy Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- People of any age, either male or female, may be considered.
- People who have a confirmed mutation in either the STXBP1 or SYNGAP1 gene, where that mutation has been classified as causing their condition based on clinical and genetic assessment criteria. Past genetic test results may be sufficient to support this.
Who may not be able to join:
- People who have a confirmed mutation in a gene other than STXBP1 or SYNGAP1 that is known to cause a neurodevelopmental disability.
- People whose STXBP1 or SYNGAP1 gene deletion is large enough to also affect other nearby genes beyond just STXBP1 or SYNGAP1.
- People who have a significant brain or behavioural condition unrelated to their STXBP1 or SYNGAP1 mutation that could affect how results are interpreted.
- People who have a history of bleeding inside the fluid-filled spaces of the brain (intraventricular hemorrhage), a structural brain difference, or a heart condition present from birth.
- People who have another health condition that, in the trial doctor's judgement, could interfere with the typical features of an STXBP1 or SYNGAP1-related condition.
- Females who are pregnant, or females who have started menstruating and test positive for pregnancy at the time of screening.
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Ingo Helbig, MD, Children's Hospital of Philadelphia
Phone: 2674411813
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Changes in percentiles recorded on clinical assessments over time
Can't join this trial?
Data last synced from ClinicalTrials.gov: 26 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.