Gene Therapy Strategies for Pompe Disease

What is Pompe Disease?

Pompe disease is a fatal neuromuscular disorder resulting from mutations in the gene for acid alpha-glucosidase (GAA) – an enzyme necessary to degrade lysosomal glycogen.  Infants with Pompe disease suffer from respiratory insufficiency often leading to mechanical ventilation. Unfortunately, the only FDA approved therapy for Pompe disease enzyme replacement therapy (ERT) is suboptimal because it does not cross the blood brain barrier. Therefore, many patients on enzyme replacement therapy still require mechanical ventilation.  In addition, infants and children on ERT eventually develop airway weakness and malacia.