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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Nicolino, M; Byrne, B; Wraith, JE; Leslie, N; Mandel, H; Freyer, DR; Arnold, GL; Pivnick, EK; Ottinger, CJ; Robinson, PH; Loo, J-CA; Smitka, M; Jardine, P; Tatò, L; Chabrol, B; McCandless, S; Kimura, S; Mehta, L; Bali, D; Skrinar, A; Morgan, C; Rangachari, L; Corzo, D; Kishnani, PS

Published Date

  • March 2009

Published In

Volume / Issue

  • 11 / 3

Start / End Page

  • 210 - 219

PubMed ID

  • 19287243

Pubmed Central ID

  • 19287243

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1097/GIM.0b013e31819d0996


  • eng

Conference Location

  • United States