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

Recruitingn/aAges any - anyAllEuropean STXBP1 Consortium
NCT06625112 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 often leading to (severe) intellectual disability and seizures in most patients, although the phenotypic spectrum is variable. Behavioral problems and movement disorders are frequent comorbidities. STXBP1-RD are severe disorders with significant impact on the quality of life of the patients and their caregivers. At the moment, there is no cure for STXBP1-RD and treatment is largely limited to symptom control. Recent advances in the field of precision medicine and gene therapy have led to the identification of potential novel disease modifying therapies for STXBP1-RD that hold promise to reach clinical trials in the coming years. However, accurate and successful evaluation of such novel prec

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Universitair Ziekenhuis Antwerpen
Antwerp, Belgium
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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