The study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls). The following clinical scales will be applied in all subjects at baseline and at months 12 and 24: SARA, SCAFI, CCFS, NESSCA, INAS and ICARS. Oculomotor function will be registered using video-oculography (EyeSeeCam, InterAcoustics) at the same time points. Progression rates, effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers.
Age range
18 Years
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Change in vestibulo-ocular reflex gain regression slope (VORr)
Timeframe: 24 months
Change in vertical smooth pursuit gain
Timeframe: 24 months
Change in slow-phase velocity of gaze evoked nystagmus (SPV-GE)
Timeframe: 24 months
Change in the slope of peak duration versus amplitude of volitional vertical saccades
Timeframe: 24 months
Change in the slope of peak duration versus amplitude of reflexive vertical saccades
Timeframe: 24 months
Change in slow-phase velocity of central nystagmus (SPV-C)
Timeframe: 24 months
Change in Neurological Examination Score for Spinocerebellar Ataxia (NESSCA)
Timeframe: 24 months
Change in SCA Functional Index (SCAFI)
Timeframe: 24 months
Change in International Cooperative Ataxia Rating Scale (ICARS)
Timeframe: 24 months
Change in Inventory of Non-Ataxia Symptoms (INAS) count
Timeframe: 24 months
Change in Composite Cerebellar Functional Severity Score (CCFS)
Timeframe: 24 months