AAV-MEDIATED GENE TRANSFER IN ANIMAL MODELS OF MUCOPOLYSACCHARIDOSIS VI

Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare inherited disease characterized by abnormalities in cartilages, bones, liver, spleen, heart valves and cornea. Mental development is usually normal in MPS VI patients. The basis for therapies in MPS VI is represented by the characteristics of the deficient enzyme ARSB, that is secreted and can be up taken by adjacent cells which are then "cross-corrected". This proposal aims at developing gene-based therapeutic strategies for MPS VI using a modified non-pathogenic small adeno-associated virus to introduce the ARSB gene in the muscle or liver of animal models of the disease. In parallel, we propose to collect and characterize at the molecular and clinical levels Italian patients with MPS VI to better understand the clinical history and progression of the disease in our patient population.