P4.37 Towards hematopoietic stem cell gene therapy for the treatment of Pompe disease

Abstract

Listen

Translate article

Pompe disease is an autosomal recessive lysosomal storage disease, characterized by progressive muscle weakness and death within the first year of life in its most severe form due to cardiac and respiratory failure. Pompe disease is caused by mutations in the gene encoding acid alpha-glucosidase (GAA) and results in elevated levels of glycogen. Enzyme replacement therapy is the current option for treatment, but is not beneficial to all patients and may result in immune reactions against the recombinant enzyme.