Objectif "Mucopolysaccharidosis VI (MPS VI, or Maroteaux-Lamy syndrome; OMIM #253200) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase B (ARSB). MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement. Thus, systemic therapies targeting peripheral organs have the potential to fully correct the MPS VI phenotype. Enzyme replacement therapy, the current treatment for MPS VI, requires weekly infusions of a costly enzyme and has limited efficacy on bone and corneal disease. Based on the encouraging preclinical results generated by our group, gene therapy based on a single intravascular administration of adeno-associated viral (AAV) vectors targeting liver has the potential to provide a lifelong source of ARSB. The MeuSIX consortium plans to conduct a multicenter phase 1/2 clinical trial to investigate the safety and efficacy of AAV-mediated gene therapy in patients with MPS VI. An orphan drug designation (ODD) has been obtained from both the European Medicinal Agency and the US Food and Drug Administration for the MPS VI therapeutic AAV vector. The results from this clinical trial proposed by the MeuSIX consortium has the potential to have a tremendous impact on the natural history of MPSVI and to significantly improve the quality of life of the affected patients. Moreover, the approach developed may facilitate the development of similar approaches for other inborn errors of metabolism." Champ scientifique natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapyhumanitieshistory and archaeologyhistorymedical and health sciencesclinical medicineophthalmologynatural sciencesbiological sciencesbiochemistrybiomoleculesproteinsenzymes Programme(s) FP7-HEALTH - Specific Programme "Cooperation": Health Thème(s) HEALTH.2012.2.4.4-1 - Preclinical and/or clinical development of substances with a clear potential as orphan drugs Appel à propositions FP7-HEALTH-2012-INNOVATION-1 Voir d’autres projets de cet appel Régime de financement CP-FP - Small or medium-scale focused research project Coordinateur FONDAZIONE TELETHON ETS Contribution de l’UE € 1 790 560,00 Adresse VIA VARESE 16/B 00185 Roma Italie Voir sur la carte Région Centro (IT) Lazio Roma Type d’activité Research Organisations Contact administratif Raffaella Pettorruso (Mrs.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée Participants (8) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire REGENXBIO INC États-Unis Contribution de l’UE € 1 709 809,00 Adresse 1701 PENNSYLVANIA AVE NW SUITE 900 20006 WASHINGTON DC Voir sur la carte Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Karen Kozarsky (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée GENOSAFE SAS France Contribution de l’UE € 777 274,00 Adresse RUE DE L'INTERNATIONALE 1 91000 EVRY Voir sur la carte Région Ile-de-France Ile-de-France Essonne Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Severine Pouillot (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II Italie Contribution de l’UE € 819 120,00 Adresse CORSO UMBERTO I, 40 80138 Napoli Voir sur la carte Région Sud Campania Napoli Type d’activité Higher or Secondary Education Establishments Contact administratif Gaetana Errico (Mrs.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée HACETTEPE UNIVERSITESI Turquie Contribution de l’UE € 240 000,00 Adresse HACETTEPE UNIVERSITESI BEYTEPE KAMPUSU REKTORLUK BINASI 06800 Cankaya Ankara Voir sur la carte Région Batı Anadolu Ankara Ankara Type d’activité Higher or Secondary Education Establishments Contact administratif Hatice Serap Sivri (Prof.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM Pays-Bas Contribution de l’UE € 241 278,00 Adresse DR MOLEWATERPLEIN 40 3015 GD Rotterdam Voir sur la carte Région West-Nederland Zuid-Holland Groot-Rijnmond Type d’activité Higher or Secondary Education Establishments Contact administratif Ans Van Der Ploeg (Prof.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée UNIVERSITA' DEGLI STUDI DI MILANO-BICOCCA Italie Contribution de l’UE € 117 000,00 Adresse PIAZZA DELL'ATENEO NUOVO 1 20126 MILANO Voir sur la carte Région Nord-Ovest Lombardia Milano Type d’activité Higher or Secondary Education Establishments Contact administratif Paola Di Rienzo (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée INFORMA SRL Participation terminée Italie Contribution de l’UE € 94 479,20 Adresse VIA LUIGI RAVA 43 00149 ROMA Voir sur la carte Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Francesca Incardona (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée INFORMAPRO - SOCIETA' A RESPONSABILITA' LIMITATA Italie Contribution de l’UE € 205 520,80 Adresse VIA LUIGI RAVA 43 00149 ROMA Voir sur la carte Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Dario Corsini (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée
