Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Recruiting now
Conditions studied: Spinocerebellar Ataxia Type 27B
In brief
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.
Key facts
- Study ID
- NCT06472557
- Run by
- University Hospital Tuebingen
- People needed
- 300
- Starts
- 2024-06-04
- Expected to finish
- 2028-12-31
- Last updated by the study team
- 2026-04-06
Who can join
Age: 18 and older, up to 99. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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
You may not qualify if…
- 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
Where it is running
- Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University — Prague, Czechia (enrolling)
- Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases — Tübingen, Baden-Wurttemberg, Germany (enrolling)
- Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen — Essen, North Rhine-Westphalia, Germany (enrolling)
- IRCCS Fondazione Stella Maris — Pisa, Italy (enrolling)
- Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute — San Sebastián, Gipuzkoa, Spain (enrolling)
Full record on ClinicalTrials.gov
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