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SCA27B study aims to map disease progression in 300 participants

NCT ID NCT06472557

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 300 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2024

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

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

18 to 99 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show 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.

  1. The places running it

    5 sites in 4 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

  • Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases

    RECRUITING

    Tübingen, Baden-Wurttemberg, 72076, Germany

  • Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen

    RECRUITING

    Essen, North Rhine-Westphalia, 45147, Germany

  • Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute

    RECRUITING

    San Sebastián, Gipuzkoa, 20014, Spain

  • Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University

    RECRUITING

    Prague, 15006, Czechia

  • IRCCS Fondazione Stella Maris

    RECRUITING

    Pisa, 56128, Italy

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