Status: Recruiting
RFC1 Natural History Study
This international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital, imaging, and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel, but frequent ataxia with late adult-onset.
Participants needed: 150
Trial details
Age: 18+Biological sex: AllType: ObservationalSponsor: Prof. Dr. Matthis SynofzikUpdated: Mar 31, 2026Locations: 10Duration: 24 Months
Eligibility criteria
RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1 [+3]
RFC1: Missing informed consent [+1]