Objetivo Gaucher disease (GD) is an autosomal recessive disorder caused by deficient activity of acid glucosylceramidase (GBA1). Most patients feature a non-neuronopathic (type 1) course of disease and are treated by either enzyme replacement therapy (ERT – administration of recombinant GBA1) or substrate reduction therapy (SRT – treatment with the iminosugar, Zavesca or the ceramide mimic, Eliglustat – inhibitors of glucosylceramide synthase (GCS)). These therapeutic agents do not prevent neurological symptoms in patients suffering from neuronopathic Gaucher forms (types 2/3) and there is thus an unmet medical need for these patients. Potent GCS inhibitors reduce glucosylceramide (GlcCer), the substrate of GBA and the storage material in Gaucher, and also higher glycosphingolipids including gangliosides and globosides, the causative storage materials in Tay-Sachs disease, GM1 gangliosidosis and Fabry disease. We have found a highly attractive lead, BiPheDNM 7 (Figure C below), which we plan to further develop towards a phase I/II clinical candidate. This proof of concept project will result in a packet comprising this lead molecule, accompanied by all the relevant data and tools to start phase I/II clinical development together with a pharmaceutical partner. Ámbito científico natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsenzymes Programa(s) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Tema(s) ERC-PoC-2015 - ERC Proof of Concept Grant Convocatoria de propuestas ERC-2015-PoC Consulte otros proyectos de esta convocatoria Régimen de financiación ERC-POC - Proof of Concept Grant Institución de acogida UNIVERSITEIT LEIDEN Aportación neta de la UEn € 150 000,00 Dirección RAPENBURG 70 2311 EZ Leiden Países Bajos Ver en el mapa Región West-Nederland Zuid-Holland Agglomeratie Leiden en Bollenstreek Tipo de actividad Higher or Secondary Education Establishments Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Participación en los programas de I+D de la UE Opens in new window Red de colaboración de HORIZON Opens in new window Coste total € 150 000,00 Beneficiarios (1) Ordenar alfabéticamente Ordenar por aportación neta de la UE Ampliar todo Contraer todo UNIVERSITEIT LEIDEN Países Bajos Aportación neta de la UEn € 150 000,00 Dirección RAPENBURG 70 2311 EZ Leiden Ver en el mapa Región West-Nederland Zuid-Holland Agglomeratie Leiden en Bollenstreek Tipo de actividad Higher or Secondary Education Establishments Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Participación en los programas de I+D de la UE Opens in new window Red de colaboración de HORIZON Opens in new window Coste total € 150 000,00
