Last reviewed · How we verify
NCT06625112: ESCO
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
trial in STXBP1 Encephalopathy With Epilepsy in 120 participants. Currently enrolling.
31 October 2029
Quick facts
| Lead sponsor | European STXBP1 Consortium |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 120 |
| Start date | 4 November 2025 |
| Primary completion | 31 October 2029 |
| Estimated completion | 31 October 2034 |
| Sites | 1 location across Belgium |
Conditions studied
- STXBP1 Encephalopathy With Epilepsy — all drugs for STXBP1 Encephalopathy With Epilepsy →
Sponsor
European STXBP1 Consortium
Who can join
Eligibility, any sex, with STXBP1 Encephalopathy With Epilepsy. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06625112
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for STXBP1 Encephalopathy With Epilepsy
Currently open trials in the same condition.
- NCT06555965 — STXBP1 and SYNGAP1 Related Disorders Natural History Study · recruiting
- NCT05161494 — Gait in Rare Diseases · active not recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06625112 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by European STXBP1 Consortium
- Last refreshed: 6 February 2026
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06625112.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing