Clinical trial NCT06472557: Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Official title: Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Spinocerebellar Ataxia Type 27B
Keywords: ataxia
SCA27B
FGF14
Natural History Study
Outcome Validation
Lead sponsor: University Hospital Tuebingen
Sponsor class: OTHER
First posted: 2024-06-25
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Maximum age (years): 99
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

Brief 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
timeFrame: 24 months
Secondary outcomes:
measure: Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up
timeFrame: 24 months
measure: Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up
timeFrame: 24 months
measure: Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up
timeFrame: 24 months
measure: Digital gait and balance assessment from baseline to 2-year follow-up
timeFrame: 24 months
Other outcomes:
measure: Activities-specific Balance Confidence Scale (ABC Scale) from baseline to 2-year follow-up
timeFrame: 24 months
measure: Friedreich Ataxia Rating Scale - Functional Staging from baseline to 2-year follow-up
timeFrame: 24 months
measure: Digital assessment of upper limb movement from baseline to 2-year follow-up
timeFrame: 24 months
Locations:
city: Tübingen
country: Germany
facility: Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
state: Baden-Württemberg
city: Essen
country: Germany
facility: Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
state: Nordrhein-Westfalen
city: San Sebastián
country: Spain
facility: Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
state: Gipuzkoa
Study officials:
affiliation: University Hospital Tübingen
name: Matthis Synofzik, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: University Hospital Tübingen
name: Andreas Traschütz, Dr. Dr.
role: PRINCIPAL_INVESTIGATOR
References: