European Study to Understand and Prepare for Clinical Trials in STXBP1-related Disorders Tracking Symptoms, Outcomes, and Biomarkers Across All Ages

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 diseases 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.

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