ClinicalTrials.gov record NCT06472557

Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age18 years old to 99 years old
SexAll
LocationCzechia, Germany, Italy, Spain
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective, registry-based study follows people with SCA27B, first-degree relatives at risk (including presymptomatic), and unrelated healthy controls. Participants have annual visits for up to 24 months with clinical exams, patient questionnaires, wearable gait sensors, Q-Motor upper-limb tests, and optional biosample donation (blood, urine, CSF, skin biopsy). The study seeks to validate and compare outcome measures for use in future SCA27B trials.

What it is studying. Whether clinical assessments, digital-motor measurements, and molecular biomarkers—collected together—reliably reflect disease status and change over time in SCA27B, including presymptomatic stages.

What the researchers hope to learn. Validate and compare clinical, digital, and molecular outcome measures for measuring SCA27B progression; identify sensitive, comprehensive, and reliable measures that could be used in future therapeutic trials.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

The investigators will perform an international, multi-center, multi-modal, and registry-based standardized prospective Natural History Study (NHS) in Spinocerebellar Ataxia Type 27B (SCA27B), including the presymptomatic phase of the disease (i.e. presymptomatic subjects at risk for SCA27B). Participants will be assessed annually. Clinical data, including clinician-reported outcomes and patient-focused outcomes, will be entered into a clinical database customized to the requirements of this specific study (SCA27B Registry; www.ataxia-registries.org). Digital-motor outcomes comprise digital gait assessment by wearable sensors, and digital assessment of upper limb movements by Q-Motor. At all study visits, participants will be asked to donate biosamples; and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy. Based on this multimodal protocol, the study aims to determine the most sensitive, comprehensive, and reliable outcome measures for future therapeutic trials in SCA27B.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants are assessed annually with a target follow-up of 24 months. Visits include clinician exams and patient questionnaires; digital-motor testing (wearable sensors for gait and balance, and Q‑Motor tests for upper-limb movements); and collection of biosamples. At every visit participants will be asked to donate samples and may choose to provide blood, urine, cerebrospinal fluid (CSF, spinal tap), and/or a skin biopsy. Clinical data and study measures will be entered into the SCA27B registry.

How the study is structured. A prospective observational cohort linked to an SCA27B registry. Participants are assessed annually over a 24-month period. Assessments include clinician-reported exams, patient-reported outcomes, wearable sensor gait and balance tests, Q-Motor upper-limb testing, and optional biosample collection (blood, urine, cerebrospinal fluid, skin biopsy). No experimental treatments are assigned.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Czechia, Germany, Italy, Spain. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on spinocerebellar ataxia

Clinical trials30 trials listed for spinocerebellar ataxiaEvery trial the registry lists for spinocerebellar ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in spinocerebellar ataxia researchLatest monthly update: September 2026. Includes: NBP trial result. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jun 4, 2024
Primary completion
Dec 31, 2028 (estimated)
Study completion
Dec 31, 2028 (estimated)
Target enrollment
300 participants (estimated)
Last updated on registry
Apr 6, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University Hospital Tuebingen
Principal investigator
Prof. Dr. Matthis Synofzik, Principal Investigator, Leading Consultant
University Hospital Tuebingen

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (5)

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

    Prague, 15006 · Czechia

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

    Tübingen, Baden-Wurttemberg, 72076 · Germany

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

    Essen, North Rhine-Westphalia, 45147 · Germany

  • IRCCS Fondazione Stella MarisRecruiting

    Pisa, 56128 · Italy

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

    San Sebastián, Gipuzkoa, 20014 · Spain

Terms used on this page · explanations by MedicalUpdates.ai

biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
Natural History Study
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
outcome measures
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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