A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

Pompe's disease is caused by a deficiency of acid alpha glucosidase, which degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by progressive muscle weakness and loss of respiratory function, leading to early death. In this randomized, placebo-controlled trial of a recombinant human acid alpha glucosidase, walking distance improved and pulmonary function stabilized over an 18-month period in patients treated with the active drug. Late-onset Pompe's disease is characterized by progressive muscle weakness and loss of respiratory function, leading to early death. In this trial of a recombinant human acid alpha glucosidase, walking distance improved and pulmonary function stabilized over an 18-month period in patients treated with the active drug. Pompe's disease is a rare, autosomal recessive, progressive neuromuscular disease caused by a deficiency of acid α-glucosidase (GAA), which degrades lysosomal glycogen. In patients with the classic infantile form, the deposition of glycogen in the heart, skeletal, and respiratory muscles causes severe cardiomyopathy, hypotonia, and respiratory failure, typically leading to death within the first year of life. 1 – 5 Children and adults, in contrast, have variable rates of disease progression. Glycogen deposition is confined mainly to skeletal and respiratory muscles, causing progressive limb-girdle myopathy and respiratory insufficiency. 1 , 5 – 9 Respiratory failure is a major cause of death. 7 , 10 , 11 No disease-specific . . .