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

Last updated: July 2, 2025
Sponsor: University Hospital Tuebingen
Overall Status: Active - Recruiting

Phase

N/A

Condition

Dyskinesias

Spinocerebellar Disorders

Friedreich's Ataxia

Treatment

N/A

Clinical Study ID

NCT06472557
SCA27B-NHS
  • Ages 18-99
  • All Genders
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

Inclusion Criteria:

  • SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14

  • SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant withknown or unknown carrier status

  • Unrelated healthy controls: no signs or history of neurological or psychiatricdisease AND

  • Written informed consent AND

  • Participants are willing and able to comply with study procedures

Exclusion

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 Design

Total Participants: 300
Study Start date:
June 04, 2024
Estimated Completion Date:
December 31, 2028

Study Description

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.

Connect with a study center

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

    Prague, 15006
    Czechia

    Active - Recruiting

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

    Tübingen, Baden-Württemberg 72076
    Germany

    Active - Recruiting

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

    Essen, Nordrhein-Westfalen 45147
    Germany

    Active - Recruiting

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

    San Sebastián, Gipuzkoa 20014
    Spain

    Active - Recruiting

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