Actively Recruiting
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
Led by European STXBP1 Consortium · Updated on 2026-02-06
120
Participants Needed
1
Research Sites
260 weeks
Total Duration
On this page
Sponsors
E
European STXBP1 Consortium
Lead Sponsor
F
Filadelfia Epilepsy Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying STXBP1-related disorders (STXBP1-RD), which are rare genetic neurodevelopmental conditions causing developmental delays, intellectual disability, seizures, behavioral problems, and movement disorders. These disorders vary widely in severity and significantly affect patients' and caregivers' quality of life. Currently, there is no cure, and treatments mainly focus on controlling symptoms. This European collaborative study aims to better understand the natural history, identify disease modifiers, relevant clinical endpoints, and outcome measures to prepare for future clinical trials of new precision therapies. The study involves a large-scale, pan-European natural history study composed of two phases: a 12-month pilot natural history study (pNHS) and a 4-year extension natural history study (eNHS). Researchers will collect both retrospective and prospective data on demographics, genetics, and clinical features from patients with STXBP1-RD. The pilot phase will assess the sensitivity of outcome measures to detect differences in impairment and changes over time, as well as the burden of study participation for patients and caregivers. Participants will be followed over different life stages including infancy, childhood, adolescence, and adulthood. Assessments include clinical evaluations and patient and caregiver input to capture the disease's impact and unmet needs. The primary outcome measure is changes in clinical assessment percentiles over 12 months. This comprehensive data collection will support the development of relevant endpoints and biomarkers for future clinical trials, with the overall participation lasting up to several years depending on the study phase.
CONDITIONS
Brief Title
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has a confirmed or likely pathogenic disease-causing variant in the STXBP1 gene or a larger structural variant including STXBP1.
- Written informed consent is provided by the participant or their legal guardian.
You will not qualify if you...
- No exclusion criteria if the inclusion criteria are met.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 12 months for the Pilot Natural History Study
Participants are observed over time to collect data on the natural history and progression of STXBP1-related disorders, including clinical assessments and quality of life evaluations.
Periodic visits during 12 months
Duration - Up to 4 years for the Extension Natural History Study
Participants who completed the pilot study continue to be observed to provide extended data on disease progression and outcomes over a longer period.
Periodic visits during up to 4 years
Trial Site Locations
Total: 1 location
1
Universitair Ziekenhuis Antwerpen
Antwerp, Belgium
Actively Recruiting
Research Team
K
Kelsey Ax
H
Hannah Stamberger
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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