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

Marc Nicolino, Barry Byrne, J. E. Wraith, Nancy Leslie, Hanna Mandel, David R. Freyer, Georgianne L. Arnold, Eniko K. Pivnick, C. J. Ottinger, Peter H. Robinson, John Charles A. Loo, Martin Smitka, Philip Jardine, Luciano Tatò, Brigitte Chabrol, Shawn McCandless, Shigemi Kimura, L. Mehta, Deeksha Bali, Alison SkrinarClaire Morgan, Lakshmi Rangachari, Deya Corzo, Priya S. Kishnani

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254 Scopus citations


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 a-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 a-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.

Original languageEnglish
Pages (from-to)210-219
Number of pages10
JournalGenetics in Medicine
Issue number3
StatePublished - Mar 2009


  • Acid maltase deficiency
  • Cardiomyopathy
  • Enzyme replacement therapy
  • Glycogen storage disease type II
  • Lysosomal acid α-glu-cosidase
  • Motor development
  • Myozyme, alglucosidase alfa
  • Pompe disease
  • Recombinant human GAA


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