A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
Recruiting now
Conditions studied: STXBP1 Encephalopathy With Epilepsy
In brief
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 precision therapies in STXBP1-RD patients is challenging, given the rarity of the condition and the variable clinical spectrum. Furthermore, relevant clinical endpoints, taking into account the patients' and caregivers' perspective have not been identified to date. In this European collaborative study, the investigators will prospectively follow patients with STXBP1-RD during different phases of life (infantile period, childhood and adolescence/adulthood). The study aims to better understand the natural history and the phenotypic spectrum of the disease including the identification of disease modifiers. It further aims to identify relevant clinical endpoints (what to treat?) and robust outcome measures and biomarkers (how to measure?) for future clinical trials. The study is performed in close collaboration with different STXBP1 patient-caregiver communities across Europe.
Key facts
- Study ID
- NCT06625112
- Run by
- European STXBP1 Consortium
- People needed
- 120
- Starts
- 2025-11-04
- Expected to finish
- 2034-10-31
- Last updated by the study team
- 2026-02-06
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- Exclusion criteria for the study are: none if the inclusion criteria are met.
Where it is running
- Universitair Ziekenhuis Antwerpen — Antwerp, Belgium (enrolling)
Full record on ClinicalTrials.gov
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