Observing the progression of Spinocerebellar Ataxia Type 27B
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
This study is trying to understand how Spinocerebellar Ataxia Type 27B progresses by looking at different tests and samples from people with the condition and those at risk for it.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | University Hospital Tuebingen Academic / other |
| Locations | 5 sites (Prague and 4 other locations) |
| Trial ID | NCT06472557 on ClinicalTrials.gov |
What this trial studies
This international, multi-center observational study aims to capture and validate the progression of Spinocerebellar Ataxia Type 27B (SCA27B) through a combination of clinical assessments, digital motor evaluations, and molecular biomarkers. Participants, including those at risk for the disease, will be assessed annually, with data collected in a specialized clinical database. The study will also involve the collection of biosamples for further analysis, aiming to identify the most effective outcome measures for future therapeutic trials in SCA27B.
Who should consider this trial
Good fit: Ideal candidates include individuals with a genetic diagnosis of SCA27B, asymptomatic first-degree relatives at risk, and healthy controls without neurological or psychiatric conditions.
Not a fit: Patients who do not have a genetic diagnosis of SCA27B or those with concurrent neurological or orthopedic diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and measurement of disease progression in SCA27B, paving the way for more effective treatments.
How similar studies have performed: While this approach is comprehensive, similar observational studies have shown promise in understanding other forms of ataxia, suggesting potential for success in this novel context.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Prague and 4 other locations
- Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University — Prague, Czechia (Recruiting)
- Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases — Tübingen, Baden-Wurttemberg, Germany (Recruiting)
- Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen — Essen, North Rhine-Westphalia, Germany (Recruiting)
- IRCCS Fondazione Stella Maris — Pisa, Italy (Recruiting)
- Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute — San Sebastián, Gipuzkoa, Spain (Recruiting)
Study contacts
- Principal investigator: Matthis Synofzik, Prof. Dr. — University Hospital Tübingen
- Study coordinator: Matthis Synofzik, Prof. Dr.
- Email: matthis.synofzik@uni-tuebingen.de
- Phone: +49 7071 29
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.