Preparing for therapies in autosomal recessive ataxias (PREPARE) is a global consortium of researchers across Europe and Canada and associated partners worldwide, aiming to pave the way for targeted treatment trials for autosomal recessive ataxias (ARCAs). It is coordinated by Prof. Dr. Matthis Synofzik from the Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany. Founded in 2016, it has been continuously growing since, now presenting the world’s largest consortium on autosomal-recessive ataxias beyond Friedreich’s Ataxia.
ARCAs define a genetically heterogeneous group of rare degenerative disorders characterized by progressive spinocerebellar degeneration resulting from autosomal-recessive mutations. Recent next-generation sequencing techniques (e.g. whole exome sequencing/whole genome sequencing) have allowed to identify a continuously expanding number of novel ARCA genes. This is the first bridgehead towards developing effective individualized molecular treatments. PREPARE has now taken up this challenge to translate the recent genetic progress into preparing successful treatment trials.
To set this stage, PREPARE collates the complementary expertise from many ARCA centres and large supporting networks worldwide to facilitate all crucial translational steps from genetic profiling (including discovery of new genes) to biomarker identification, standardized preclinical trials, FDA-conform outcome measures, and registry-inventoried transnational trial-ready cohorts for ARCAs.
We aim to establish the world’s largest:
This will allow to implement all strong structural resources to facilitate global translational ARCA research in the future.