Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
NCT ID: NCT06472557
Last Updated: 2025-07-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
300 participants
OBSERVATIONAL
2024-06-04
2028-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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SCA27B
Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants.
No interventions assigned to this group
SCA27B risk subjects
First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants
No interventions assigned to this group
Unrelated healthy controls
Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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 risk subjects: Missing informed consent
* Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments
18 Years
99 Years
ALL
Yes
Sponsors
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University Hospital Tuebingen
OTHER
Responsible Party
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Prof. Dr. Matthis Synofzik
Principal Investigator, Leading Consultant
Principal Investigators
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Matthis Synofzik, Prof. Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Andreas Traschütz, Dr. Dr.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Tübingen
Locations
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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, Baden-Wurttemberg, Germany
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
Essen, North Rhine-Westphalia, Germany
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
San Sebastián, Gipuzkoa, Spain
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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SCA27B-NHS
Identifier Type: -
Identifier Source: org_study_id
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