Lentiviral Stem Cell Gene Therapy for Pompe Disease.

Pompe disease is a rare autosomal recessive metabolic disorder caused by defi ciency of lysosomal hydrolase acid α-glucosidase (GAA). GAA degrades glycogen to glucose, and defi ciency results in generalized tissue glycogen accumulation leading to cardiorespiratory failure in the early-onset patients within the fi rst year of life. Enzyme replacement therapy (ERT) by administration of recombinant acid α-glucosidase (alglucosidase alfa, Myozyme®) is currently the only effective treatment, requiring highdose biweekly administration. Although of considerable bene it to many patients, ERT is not curative, requires life-long administration, may result in immune responses to the recombinant enzyme and, partly due to the high doses required for clinical ef icacy, the costs are extremely high. Therefore, a corrective intervention with curative intent represents an unmet medical need.