Specimen Table

Cohort Population Genomic DNA Plasma CSF
READISCA Cases (please see Study Details for more information)

Study Details

Clinical Trial Readiness for SCA1 and SCA3 (READISCA)

READISCA is a longitudinal study, designed to establish a well defined cohort of early-stage and symptomless SCA1 and SCA3 individuals and to discover and verify disease-related biomarkers. The study is sponsored by the National Institute of Neurological Disorders and Stroke. Investigators who request access to the READISCA resource will be required to comply with the BioSEND Biospecimens User Agreement and/or the Data Use Agreement and to adhere to the Publication Policy.

Study Subjects

This study is still currently enrolling, and projects to have a total enrollment of 200 subjects. Subjects will fall into one of the below groups:

- Early stage subjects: This cohort is defined by individuals with a total Scale for the Assessment and Rating of Ataxia (SARA) score of less than or equal to 9.5

- Premanifest mutation carriers: This cohort is defined by the presence of positive genetic testing 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 developedin 2009-2012 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.

Available Data

Please contact U01SCA1&3@houstonmethodist.org for more information regarding available clinical data.

Available Biospecimens

DNA from blood, plasma, and CSF.