Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
Preparing for therapies in autosomal recessive ataxias

Project Coordinator

Hertie-Institute for Clinical Brain Research, Tübingen, Germany


Bart van de Warrenburg Radboud University Nijmegen Medical Centre & Donders Institute for Brain, Cognition, and Behaviour Nijmegen, The Netherlands
Giovanni Stevanin Institut du Cerveau et de la Moelle épinière, INSERM / Paris VI University 975 Paris, France
Helene Puccio Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC) Illkirch, France
Bernard Brais Montreal Neurological Institute of McGill University Montreal, Qc, Québec (Canada)
Filippo Santorelli IRCCS Fondazione Stella Maris Calambrone, Italy
Hasmet Ayhan HANAGASI Istanbul Faculty of Medicine, University Istanbul Istanbul, Turkey
Paola Giunti Institute of Neurology, UCL, Queen Square, London, United Kingdom; London, UK

Autosomal-recessive cerebellar ataxias (ARCAs) define a genetically heterogeneous group of rare degenerative disorders characterized by progressive cerebellar degeneration. Recent high-throughput sequencing techniques have allowed to identify an expanding number of novel ARCA genes, many identified by researchers from this consortium. However, the challenge is now to translate this genetic progress into preparing successful treatment trials. PREPARE will collate the complementary expertise from many ARCA centres worldwide to facilitate the crucial translational steps from genetic fingerprinting to preclinical trials and trial ready cohorts. To set this stage, it will establish a “translational pipeline” that will be applicable to several rare ARCAs alike. A shared prospective longitudinal registry will allow to aggregate ARCA cohorts of sufficient size and establish serial natural history data needed to launch treatment trials. Genetically still undefined ARCA patients will be screened by exome sequencing, thus maximizing the number of patients eligible for treatment trials and including definition of novel ARCA syndromes. To support causality of the novel genes and identify pathway nodes susceptible to drug compounds, genetic fly models will be created. Trial outcome measures will be established by an international collaborative process, capturing complex ARCA phenotypes and including extensive „3-omics“ biomarker screening. First preclinical trial protocols applicable to many ARCA types will be implemented in transgenic ARCA mice, including testing of drug compounds.

E-Rare 2012 - Created by Toussaint Biger