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

University Hospital Tuebingen

Status: Enrolling

Conditions: Spinocerebellar Ataxia Type 27B

Study type: Observational

Funder types: Other

Identifiers

NCT06472557

SCA27B-NHS

Details and patient eligibility

About

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.

Full 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.

Enrollment: 300 estimated patients

Sex: All

Ages: 18 to 99 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

300 participants in 3 patient groups

SCA27B

Description:

Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants.

SCA27B risk subjects

Description:

First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants

Unrelated healthy controls

Description:

Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50.