title: Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
abstract: In a previous 52-wk trial, treatment with alglucosidase alpha markedly improved cardiomyopathy, ventilatory function, and overall survival among 18 children <7 mo old with infantile-onset Pompe disease. Sixteen of the 18 patients enrolled in an extension study, where they continued to receive alglucosidase alpha at either 20 mg/kg biweekly (n = 8) or 40 mg/kg biweekly (n = 8), for up to a total of 3 y. These children continued to exhibit the benefits of alglucosidase alpha at the age of 36 mo. Cox regression analyses showed that over the entire study period, alglucosidase alpha treatment reduced the risk of death by 95%, reduced the risk of invasive ventilation or death by 91%, and reduced the risk of any type of ventilation or death by 87%, compared with an untreated historical control group. Cardiomyopathy continued to improve and 11 patients learned and sustained substantial motor skills. No significant differences in either safety or efficacy parameters were observed between the 20 and 40 mg/kg biweekly doses. Overall, long-term alglucosidase alpha treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy.
authors: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. kishn001@mc.duke.edu
authors: Priya S
authors: PS
authors: Kishnani
authors: Deya
authors: D
authors: Corzo
authors: Nancy D
authors: ND
authors: Leslie
authors: Daniel
authors: D
authors: Gruskin
authors: Ans
authors: A
authors: Van der Ploeg
authors: John P
authors: JP
authors: Clancy
authors: Rosella
authors: R
authors: Parini
authors: Gilles
authors: G
authors: Morin
authors: Michael
authors: M
authors: Beck
authors: Mislen S
authors: MS
authors: Bauer
authors: Mikael
authors: M
authors: Jokic
authors: Chen-En
authors: CE
authors: Tsai
authors: Brian W H
authors: BW
authors: Tsai
authors: Claire
authors: C
authors: Morgan
authors: Tara
authors: T
authors: O'Meara
authors: Susan
authors: S
authors: Richards
authors: Elisa C
authors: EC
authors: Tsao
authors: Hanna
authors: H
authors: Mandel
mesh_terms: D002648:Child; D002675:Child, Preschool; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000401:mortality; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D012307:Risk Factors; D015996:Survival Rate; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases