International Study on the Natural History and Biomarkers of RFC1 Repeat Expansion Disease in Adults

What this Trial Is About

Researchers are conducting an international, multi-center, prospective observational study to understand the range and natural progression of RFC1 repeat expansion disease, a type of ataxia that often begins in late adulthood. This study aims to identify and validate digital, imaging, and molecular biomarkers that can help diagnose the disease and serve as outcome measures in future clinical trials for this condition. Participants with genetically confirmed RFC1 repeat expansion disease and unrelated healthy controls will be recruited. The study includes annual visits where participants undergo standardized clinical examinations using several rating scales, with data collected in a specialized clinical database. Optional biosample donations such as blood, urine, cerebrospinal fluid, and skin biopsies may be collected. Additional optional tests like imaging, movement and speech analysis, vestibular testing, neuropsychological exams, and swallowing function assessments may be performed depending on site availability. During the study, participants will be assessed yearly to track disease progression and biomarker changes over at least two years. Researchers will use clinical rating scales such as the Scale for the Assessment and Rating of Ataxia SARA and other secondary measures to evaluate changes in motor function and daily living activities. The study also aims to gain insights into how different body systems are affected over time. Participation will involve clinical exams, optional sample collections, and various functional tests to monitor disease evolution and support future therapeutic research.

RFC1 Natural History Study