Status:
RECRUITING
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
Lead Sponsor:
European STXBP1 Consortium
Collaborating Sponsors:
Filadelfia Epilepsy Hospital
University Hospital Heidelberg
Conditions:
STXBP1 Encephalopathy With Epilepsy
Eligibility:
All Genders
Brief Summary
STXBP1-related disorders (STXBP1-RD) are rare genetic neurodevelopmental disorders, caused by pathogenic variants in the gene STXBP1. The core clinical features of the disorder are developmental delay...
Detailed Description
STXBP1-related disorders (STXBP1-RD) are a severe condition that heavily impact the life of affected individuals and their families. Core clinical features of STXBP1-RDs are seizures, developmental de...
Eligibility 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.
Key Trial Info
Start Date :
November 4 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 31 2034
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT06625112
Start Date
November 4 2025
End Date
October 31 2034
Last Update
February 6 2026
Active Locations (1)
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1
Universitair Ziekenhuis Antwerpen
Antwerp, Belgium