TREAT-ARCA: Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias

Autosomal-recessive cerebellar ataxia (ARCA) is a heterogeneous group of rare neurodegenerative genetic diseases that share the common hallmark of progressive damage to parts of the nervous system that coordinate movement, such as the cerebellum. Despite its devastating consequences in daily life on mobility and communication and reduced life span, no disease-modifying treatment is available for these disabling disorders. TREAT-ARCA aims at designing and testing a new complementary treatment strategies, including both repurposed and newly identified molecules, as well as gene therapies in two exemplary multisystemic flagship ARCAS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (ARCA2). In addition, TREAT-ARCA aims at identifying and validating biomarkers that will enable to follow treatment. This will directly complement our consortium’s prior clinical trial-readiness work on these ARCAs (see PREPARE consortium; www.prepare-ataxia.com), thus now attaining all prerequisites required for directly facilitating clinical treatment trials in these two ARCAs.