DRPLA Natural History and Biomarkers Study (DRPLA NHBS)
Ataxia UK
University of North Carolina at Charlotte
Currently, there is no effective treatment for DRPLA, this study objective is to obtain natural history data of the condition, and valid biomarkers, which can be used as outcome measures in order to facilitate the implementation and development of clinical trials. This study will collect longitudinally clinical measures in patients affected by DRPLA and gather information from different biomarker modalities. The study design is prospective, observational, longitudinal, multi-national, multi-center study, in subjects with confirmed DRPLA-mutation carrier and a volunteer unaffected control group. The study aims to recruit 150 DRPLA participants and 75 unaffected controls.
2.1 Biological and endogenous factors