Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996.


Purpose: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease.

Methods: Open-label, multicenter study of IV alglucosidase alfa treatment in 21 infants 3-43 months old (median 13 months) with minimal acid alpha-glucosidase activity and abnormal left ventricular mass index by echocardiography. Patients received IV alglucosidase alfa every 2 weeks for up to 168 weeks (median 120 weeks). Survival results were compared with an untreated reference cohort.

Results: At study end, 71% (15/21) of patients were alive and 44% (7/16) of invasive-ventilator free patients remained so. Compared with the untreated reference cohort, alglucosidase alfa reduced the risk of death by 79% (P < 0.001) and the risk of invasive ventilation by 58% (P = 0.02). Left ventricular mass index improved or remained normal in all patients evaluated beyond 12 weeks; 62% (13/21) achieved new motor milestones. Five patients were walking independently at the end of the study and 86% (18/21) gained functional independence skills. Overall, 52% (11/21) of patients experienced infusion-associated reactions; 95% (19/20) developed IgG antibodies to recombinant human lysosomal acid alpha-glucosidase; no patients withdrew from the study because of safety concerns.

Conclusions: In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival. Treatment also improved indices of cardiomyopathy, motor skills, and functional independence.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Body Height
  • Body Weight
  • Child, Preschool
  • Cough / chemically induced
  • Echocardiography
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / metabolism
  • Glycogen Storage Disease Type II / physiopathology
  • Humans
  • Immunoglobulin G / blood
  • Infant
  • Kaplan-Meier Estimate
  • Male
  • Muscle, Skeletal / drug effects
  • Muscle, Skeletal / metabolism
  • Skin Diseases / chemically induced
  • Time Factors
  • Treatment Outcome
  • alpha-Glucosidases / adverse effects
  • alpha-Glucosidases / immunology
  • alpha-Glucosidases / therapeutic use*


  • Immunoglobulin G
  • Glycogen
  • GAA protein, human
  • alpha-Glucosidases