Document Detail

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
MedLine Citation:
PMID:  19287243     Owner:  NLM     Status:  MEDLINE    
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.
Marc Nicolino; Barry Byrne; J Edmund 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 Skrinar; Claire Morgan; Lakshmi Rangachari; Deya Corzo; Priya S Kishnani
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Publication Detail:
Type:  Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  11     ISSN:  1530-0366     ISO Abbreviation:  Genet. Med.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-03-16     Completed Date:  2009-09-25     Revised Date:  2013-08-22    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  210-9     Citation Subset:  IM    
Division of Pediatric Endocrinology, Diabetology and Metabolism, Hôpital Debrousse, University Lyon, Lyon, France.
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MeSH Terms
Body Height
Body Weight
Child, Preschool
Cough / chemically induced
Enzyme-Linked Immunosorbent Assay
Glycogen / metabolism
Glycogen Storage Disease Type II / drug therapy*,  metabolism,  physiopathology
Immunoglobulin G / blood
Kaplan-Meier Estimate
Muscle, Skeletal / drug effects,  metabolism
Skin Diseases / chemically induced
Time Factors
Treatment Outcome
alpha-Glucosidases / adverse effects,  immunology,  therapeutic use*
Grant Support
Reg. No./Substance:
0/Immunoglobulin G; 9005-79-2/Glycogen; EC protein, human; EC

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