Clinical Trial Readiness for SCA1 and SCA3
The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments. Through US-European collaborations, the investigators will establish the world's largest cohorts of subjects at the earliest disease stages, who will benefit most from treatments, validate an ability to detect disease onset and early progression by imaging markers, even prior to ataxia onset, and identify clinical trial designs that will generate the most conclusive results on treatment efficacy with small populations of patients.
- Signed informed consent (no study-related procedures may be performed before the subject has signed the consent form).
- Subjects of either sex aged 18 to 65 with presence of symptomatic ataxic disease or asymptomatic mutation carrier or
- Subjects with definite molecular diagnosis of SCA1 or SCA3 or another affected family member
- Subjects of any age with previous diagnosis of Early stage SCA1 and SCA3
- Subjects capable of understanding and complying with protocol requirements
- No changes in physical/occupational therapy status within two months prior to enrollment
- Subjects currently receiving, or having received within 2 months prior to enrollment into this study, any investigational drug.
- Subjects who do not wish to or cannot comply with study procedures.
- Genotype consistent with other inherited ataxias
- Changes in coordinative physical and occupational therapy for ataxia 2 months prior to study participation
- Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study
- AIM 2 exclusion criteria also includes the inability to undergo MRI scanning and weight over 300lbs, presence of structural abnormalities such as subdural hematoma or primary or metastatic neoplasms and concurrent illnesses or treatment interfering with cognitive function such as stroke or normal pressure hydrocephalus.