Pan-European program to prepare clinical testing for STXBP1-related disorders
Official title: A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
Run by European STXBP1 Consortium · NCT06625112 · Data updated 2026-11-12
This project will collect medical, developmental, and seizure information from people with STXBP1-related disorders across Europe to help design future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 120 (estimated) |
| Sponsor | European STXBP1 Consortium Research network |
| Locations | 1 site (Antwerp) |
| Status | Recruiting |
| Started | November 4, 2025 |
| Main results expected | October 31, 2029 |
| Study ends | October 31, 2034 |
| Registry record updated | February 6, 2026 |
| Trial ID | NCT06625112 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People of any age with a pathogenic or likely pathogenic STXBP1 variant (or a structural variant including STXBP1) who can provide informed consent or have a legal guardian to consent are ideal candidates.
✕Probably not a fit
Individuals without a confirmed STXBP1 genetic diagnosis or those unable to access or participate at participating European sites are unlikely to receive direct benefit from this natural history program.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This pan-European natural history program will enroll people with genetically confirmed STXBP1-related disorders and collect standardized clinical, developmental, and seizure data over time. Participating centers will use harmonized outcome measures, biomarker sampling where possible, and caregiver-reported outcomes and quality-of-life measures. Data will be pooled across multiple sites in collaboration with patient advocacy organizations to characterize disease trajectories and identify potential clinical trial endpoints and biomarkers. The project aims to create a centralized dataset and common protocols to make future therapeutic testing more efficient and comparable across centers.
Why it matters
Potential benefit: If successful, the program could speed and improve the design of clinical testing for disease-modifying therapies and help establish clearer care guidelines for patients and families.
How similar studies have gone: Natural history and registry projects in other rare genetic epilepsies have successfully informed trial endpoints and recruitment, and smaller STXBP1 registries have provided preliminary data, but a large pan-European dataset is still needed.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * participant has a (likely) pathogenic, disease-causing STXBP1 variant, according to the American College of Medical Genetics and Genomics (ACMG) criteria; or participant has a larger structural variant including the STXBP1 gene where STXBP1 is thought to be (one of) the culprit gene(s) causing the phenotype •written informed consent from study participant and/or legal guardian. Exclusion Criteria: * Exclusion criteria for the study are: none if the inclusion criteria are met.
Where it's running
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Universitair Ziekenhuis Antwerpen
Antwerp, Belgium Recruiting
Study contacts
- Principal investigator: Hannah Stamberger — University Hospital, Antwerp
- Study coordinator: Kelsey Ax
- Email: k.a.ax@vu.nl
- Phone: +31 205981347
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Natural history study of STXBP1 and SYNGAP1 related disorders
This study is trying to learn more about STXBP1 and SYNGAP1 related disorders by collecting information from participants over five years to help improve future treatments.
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.