About this trial
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers.
Eligibility criteria
Qualifiers
SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14
SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status
Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
Written informed consent AND
Disqualifiers
SCA27B: Missing informed consent
SCA27B risk subjects: Missing informed consent
Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments
Trial design
Treatments tested in this trial
- Not listed