New therapies for Pompe disease: are we closer to a cure?

Abstract

Disease-specific therapy is available for only a handful of neuromuscular disorders, including Pompe disease—a debilitating metabolic myopathy caused by a deficiency of the lysosomal glycogen-catabolising enzyme, acid α-glucosidase (GAA). Enzyme replacement therapy (ERT) with recombinant human GAA, alglucosidase alfa, was approved (by the US Food and Drug Administration and the European Medicines Agency) for Pompe disease more than a decade ago. Since this approval, clinical trials and multiple investigator-led long-term studies have shown that most patients with late-onset Pompe disease experience a steady decline in multiple outcome measures (particularly those assessing respiratory function) after initial improvements over the first few years with ERT.