Clinical Trial Readiness for SCA1 and SCA3

Status: Active, not recruiting
Location: See location...
Study Type: Observational

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.

Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 65
Healthy Volunteers: Accepts Healthy Volunteers

• 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

United States
Houston Methodist Hospital
Time Frame
Start Date: August 16, 2018
Estimated Completion Date: December 31, 2023
Target number of participants: 200
Early stage subjects
This cohort is defined by individuals with a total SARA score of less than or equal to 9.5
Premanifest mutation carriers
This cohort is defined by the presence of positive genetic diagnosis but no signs of ataxia and total SARA score of less than or equal to 2.5
50%-at-risk subjects
This cohort is defined by individuals who are at risk for SCA1 or SCA3 because they have a family member who tested positive for SCA1 or SCA3. Total SARA score is less than or equal to 2.5
Previously diagnosed early stage
This cohort is defined by individuals who were included in prior CRC-SCA, EUROSCA, ESMI or SPATAX studies who had a total SARA score of less than or equal to 10 in 2009-2012
Collaborators: Northwestern University, Columbia University, University of California, Los Angeles, University of Florida, University of South Florida, Johns Hopkins University, University of Michigan, Ohio State University, German Center for Neurodegenerative Diseases (DZNE), Emory University, University of Utah, University of Chicago, University of Alabama at Birmingham, University of Rochester, University of Pennsylvania, University of California, San Francisco, Stanford University, University of Iowa, Institut de Recherche sur la Moelle épinière et l'Encéphale, University of Colorado, Denver, Harvard University, University of Minnesota
Leads: The Methodist Hospital Research Institute

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