Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Status: Recruiting
Location: See all (3) locations...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 99
Healthy Volunteers: t
View:
• 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
Locations
Other Locations
Germany
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
RECRUITING
Essen
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
RECRUITING
Tübingen
Spain
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
RECRUITING
San Sebastián
Contact Information
Primary
Matthis Synofzik, Prof. Dr.
matthis.synofzik@uni-tuebingen.de
+49 7071 29
Backup
Andreas Traschütz, Dr. Dr.
andreas.traschuetz@uni-tuebingen.de
+49 7071 29
Time Frame
Start Date: 2024-06-04
Estimated Completion Date: 2028-12-31
Participants
Target number of participants: 300
Treatments
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.
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
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.
Related Therapeutic Areas
Sponsors
Leads: University Hospital Tuebingen