A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders

Plain-language summary

This is a multicenter European study aiming to improve readiness for future clinical trials in STXBP1-related disorders (inherited conditions that can cause developmental and neurological problems). Participants who carry a disease-causing variant in the STXBP1 gene can be included. It is a study without an assigned phase and is still enrolling participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

European STXBP1 Consortium

Start date

11/4/2025

Estimated completion

10/31/2034

Countries

Belgium

Related genes

Locations

• Antwerp, Belgium

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.