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

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-99
SponsorUniversity Hospital Tuebingen

About this trial

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

Qualifiers

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

Disqualifiers

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

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

300 Participants
are grouped into 3 trial groups

Sponsors and collaborators