Title: Gene Therapy for Pompe Disease: From Bench to Bedside

Speaker:
Giuseppe Ronzitti, PhD - Genethon-France

Abstract:
Pompe disease (PD) is a rare autosomal disease (OMIM #232300) due to the deficiency of the enzyme acid a-glucosidase (GAA). Mutations in this enzyme, lead to glycogen accumulation, cardiomegaly with respiratory distress muscle weakness and feeding difficulties. Administration of the recombinant enzyme (Myozyme®, Sanofi) is the current treatment for PD. Although Myozyme® is a lifesaving treatment, variable improvement in the locomotor function were observed.

Several investigational gene therapy approaches have been developed in the past to treat PD. We developed a gene replacement therapy for PD based on adeno-associated virus (AAV) vector expressing GAA in the liver fused with an efficient signal peptide to achieve an efficient recreation of GAA in the bloodstream. Sustained, stable levels of circulating GAA corrected the disease at a systemic level. Pharmacokinetic studies comparing the efficacy of gene therapy and enzyme replacement therapy with recombinant human GAA support further development of this approach.

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