Pan-European program to prepare clinical testing for STXBP1-related disorders
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
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 |
|---|---|
| Enrollment | 120 (estimated) |
| Sex | All |
| Sponsor | European STXBP1 Consortium Research network |
| Locations | 1 site (Antwerp) |
| Trial ID | NCT06625112 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Antwerp
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.