- Test the hypothesis that our new digital composite score (potential biomarker), combining body-worn sensor measures of sway and gait, will correlate with the SARA and patient-report outcome measures in diverse populations across the world.
The hereditary ataxias, which include both autosomal dominant spinocerebellar ataxias (SCAs) and autosomal recessive ataxias (ARCAs), are a remarkably genetically heterogeneous group of rare disorders that all share the common clinical feature of progressive imbalance and motor incoordination impairing gait. These common hallmarks of cerebellar dysfunction are surprisingly difficult to precisely and reproducibly quantitate, especially in a fashion that transcends cultural and language barriers and correlates with patient reported outcome measures. Thus, the development and testing of new treatments for these rare conditions, such as gene modification therapies, have been severely hampered by the lack of efficient and robust outcome measures. To solve this issue, we have employed wearable inertial sensors to develop a composite measure of gait and balance that is sensitive to change, highly correlated with clinical scores (Scale for the Assessment and Rating of Ataxia SARA) and with patient-reported outcomes when tested in a cohort of English- and Spanish-speaking SCA patients.
|Cohorts used||All SCAs & ARCAs|
|Funding available?||To be sought|
|Trial readiness category||2: setting the stage for trial readiness (general cohorts, outcome measures or treatment approach identification)|
University of Chicago, Chicago, Illinois, USA
APDM, Portland, Oregon, USA
Oregon Health and Sciences University, Portland, Oregon, USA
Further project partners: