RecruitingNCT06472557
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Sponsor
University Hospital Tuebingen
Enrollment
300 participants
Start Date
Jun 4, 2024
Study Type
OBSERVATIONAL
Conditions
Summary
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
Min Age: 18 YearsMax Age: 99 Years
Inclusion Criteria5
- 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 Criteria3
- 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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Locations(5)
View Full Details on ClinicalTrials.gov
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NCT06472557