Actively Recruiting
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Led by University Hospital Tuebingen · Updated on 2026-04-06
300
Participants Needed
5
Research Sites
238 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetic diagnosis of 250 or more uninterrupted GAA repeat expansions in the FGF14 gene for SCA27B participants
- Asymptomatic first-degree relatives of SCA27B participants with known or unknown carrier status
- Unrelated healthy controls with no signs or history of neurological or psychiatric disease
- Written informed consent provided
- Willingness and ability to follow study procedures
You will not qualify if you...
- Missing informed consent for SCA27B participants
- Missing informed consent for SCA27B risk subjects
- Missing informed consent for unrelated healthy controls
- Presence of neurological, orthopedic, or other diseases that interfere with motor assessments for unrelated healthy controls
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 5 locations
1
Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
Prague, Czechia, 15006
Actively Recruiting
2
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, Germany, 72076
Actively Recruiting
3
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
Essen, North Rhine-Westphalia, Germany, 45147
Actively Recruiting
4
IRCCS Fondazione Stella Maris
Pisa, Italy, 56128
Actively Recruiting
5
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
San Sebastián, Gipuzkoa, Spain, 20014
Actively Recruiting
Research Team
M
Matthis Synofzik, Prof. Dr.
CONTACT
A
Andreas Traschütz, Dr. Dr.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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