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Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)

Recruitingn/aAges 18 Years - 99 YearsAllUniversity Hospital Tuebingen
NCT06472557 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

5 sites
Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
Prague, Czechia
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Germany
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
Essen, Germany
IRCCS Fondazione Stella Maris
Pisa, Italy
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
San Sebastián, Spain
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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