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STXBP1 and SYNGAP1 Related Disorders Natural History Study

This study is looking to understand more about STXBP1 and SYNGAP1 related disorders, which are genetic conditions affecting brain development and often causing severe developmental delay and epilepsy. There are no interventions or treatments being tested in this study. Instead, researchers will gather detailed information on how these conditions progress over time, including developmental milestones, seizures, and quality of life. This information is crucial for preparing future treatment trials. You may be eligible if you have a confirmed STXBP1 or SYNGAP1 gene mutation. The study aims to enroll 600 participants, but its current recruitment status is unclear.

Study design
This is an observational study, meaning there are no interventions or treatments given. It plans to enroll 600 participants to gather information about STXBP1 and SYNGAP1 related disorders.
What's involved
Participation may last up to five years and involve up to 10 study visits. These visits will include detailed questions about health, physical exams, EEG tests, and age-appropriate assessments of development and behavior.
Compensation
Not stated in the trial record.
Follow-up
Participants will have assessments at a baseline visit and then every six months for two to five years to track changes over time.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06555965

STXBP1 and SYNGAP1 Related Disorders Natural History Study

Recruiting
Not specifiedAll AgesObservational
Children's Hospital of Philadelphia
~600 participants
Updated 2025-10-29 on ClinicalTrials.gov
What's tested:Non-interventional study

At a glance

Recruiting sites
5 of 5 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Changes in percentiles recorded on clinical assessments over time
Measured over Every 6 months upto 5 years

Conditions

Genetic Disease
STXBP1 Encephalopathy With Epilepsy
SYNGAP1-Related Intellectual Disability

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NCT06555965

Where you'd take part

This study runs at 5 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Children's Hospital Colorado

    Aurora, Coloradostudy coordinator listed

    Recruiting

  • Stanford Medicine Children's Health

    Palo Alto, Californiastudy coordinator listed

    Recruiting

  • Texas Children's Hospital

    Houston, Texasstudy coordinator listed

    Recruiting

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvaniastudy coordinator listed

    Recruiting

  • Weill Cornell Medicine

    New York, New Yorkstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Ingo Helbig, MD · PRINCIPAL_INVESTIGATOR · Children's Hospital of Philadelphia

Who to contact

Joeylynn Nolan, RRT NPS AE-C
[email protected]
2674411813
Email the study team

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Changes in percentiles recorded on clinical assessments over timeEvery 6 months upto 5 years

    The primary analysis will include all subjects meeting all inclusion and exclusion criteria and completing Visit 1. For each subject, the percentage of items performed correctly on the clinical assessments will be recorded. Changes in percentiles over time will be analyzed using a linear mixed effects model, to account for repeated measures for each patient.