Injection of novel gene therapy vector prolonged survival in mouse model of Pompe disease

A new study has shown that a single injection of a novel adeno-associated vector (AAV)-based therapy can result in improved enzyme activ-ity and glycogen clearance as well as prolonged survival in a mouse model of Pompe dis-ease. Young mice received an injection of AAVB1-GAA gene therapy, which delivers a normal copy of the gene for the lysosomal enzyme alpha glucosidase (GAA), which is mutated in Pompe disease, a lysosoma disease. The positive effects of gene replacement seen in adult mice are described in an article published in Human Gene Therapy.

The article entitled “Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease” was coauthored by Mai ElMallah, Uni-versity of Massachusetts Medical School, Worcester and a team of researchers from Uni-versity of Massachusetts Medical, Duke University, Durham, NC, and University of Flor-ida, Gainesville.

The key finding was the ability of a single systemic injection of AAVB1-GAA gene ther-apy vector to significantly prolong survival. The vector showed substantial activity in the heart, resulting in increased GAA enzyme activity and glycogen clearance in the myocar-dium. It also appeared to target the respiratory system and improve ventilatory measures.

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