SCA27B study aims to map disease progression in 300 participants
NCT ID NCT06472557
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study follows 300 people with a rare genetic movement disorder called SCA27B, along with some family members and healthy volunteers, for up to 2 years. Researchers will use exams, digital devices, and blood tests to measure how the disease changes over time. The goal is to find the best ways to track the disease in future treatment trials.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 300 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jun 2024
- Expected to finish
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Dec 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
This study enrolls participants with clinically manifest and genetically confirmed SCA27B and first-disease relatives at-risk for SCA27B, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.
- Ages
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18 to 99 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
5 sites in 4 countries. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
RECRUITINGTübingen, Baden-Wurttemberg, 72076, Germany
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Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
RECRUITINGEssen, North Rhine-Westphalia, 45147, Germany
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Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
RECRUITINGSan Sebastián, Gipuzkoa, 20014, Spain
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Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
RECRUITINGPrague, 15006, Czechia
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IRCCS Fondazione Stella Maris
RECRUITINGPisa, 56128, Italy
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