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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2009 Mar; Vol. 11 (3), pp. 210-9. - Publication Year :
- 2009
-
Abstract
- Purpose: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease.<br />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.<br />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.<br />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.
- Subjects :
- Body Height
Body Weight
Child, Preschool
Cough chemically induced
Echocardiography
Enzyme-Linked Immunosorbent Assay
Female
Glycogen metabolism
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
Glycogen Storage Disease Type II drug therapy
alpha-Glucosidases therapeutic use
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 11
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 19287243
- Full Text :
- https://doi.org/10.1097/GIM.0b013e31819d0996