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Clinical trialNCT06555965RecruitingObservational

STXBP1 and SYNGAP1 Related Disorders Natural History Study

SponsorChildren's Hospital of PhiladelphiaEnrollment600Genetic DiseaseSTXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual Disability
View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.
clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a FindMyKOL profile link to it; the rest are shown as registered.

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

5 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States
  • Stanford Medicine Children'S Health

    Palo Alto, California, United States

    Juliet Knowles, MD
    Recruiting
  • Children'S Hospital Colorado

    Aurora, Colorado, United States

    Andrea Miele, PhD
    Recruiting
  • Weill Cornell Medicine

    New York, New York, United States

    Zachary Grinspan, MD
    Recruiting
  • the Children'S Hospital of Philadelphia

    Philadelphia, Pennsylvania, United States

    Ingo Helbig, MD
    Recruiting
  • Texas Children'S Hospital

    Houston, Texas, United States

    Hsiao-Tuan Chao, MD, PhD
    Recruiting

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study. It may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start
30 Aug 2023
Primary completion
30 Aug 2028
Completion
30 Dec 2028
Last update posted
29 Oct 2025
Registered enrollment
600
Registry id
NCT06555965
clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 4 Nov 2026. Registry facts are shown as registered by the study sponsor; FindMyKOL does not interpret them.