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
Sex
ALL
Min age
18 Years
Max age
99 Years
Healthy volunteers
Accepted
Inclusion Criteria:
* 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
* Participants are willing and able to comply with study procedures
Exclusion Criteria:
* 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
Primary outcome measure(s)
Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up — 24 months Severity of ataxia in the gait and balance domain will be assessed by application of part E of the neurological examination of Friedreich Ataxia Rating Scale (FARS-E). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher FARS-E scores indicate more severe functional impairment.
Trial sites (5)
Facility
City
Region
Status
Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
Prague
Czechia
Recruiting
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen
Baden-Wurttemberg
Recruiting
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
Essen
North Rhine-Westphalia
Recruiting
IRCCS Fondazione Stella Maris
Pisa
Italy
Recruiting
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
San Sebastián
Gipuzkoa
Recruiting
More University Hospital Tuebingen trials in Italy
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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