ARSACS biomarker

Unravelling progression biomarkers in ARSACS: a multicenter transmodal combined fluid biomarker and magnetic resonance imaging study

01/08/2018 to 31/07/2020

Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) is a devastating, incurable neurodegenerative disease now acknowledged as one of the most frequent recessive ataxias worldwide. First translational strategies aiming for disease-modifying treatments are recently emerging. Thus, there is urgent need to establish robust and sensitive outcome parameters for preparing upcoming clinical trials in ARSACS. We here propose a combined transmodal fluid biomarker and neuroimaging study to unravel progression biomarkers for ARSACS, bringing together a unique transatlantic, multi-center consortium which will yield the by far largest, most comprehensive biomarker investigation in ARSACS worldwide, creating combined clinical, biomaterial and multimodal MRI data-sets from 125 ARSACS patients across continents.