title: Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.
abstract: Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due to a deficiency of the lysosomal enzyme acid alpha-glucosidase patients develop a generalized myopathy, diaphragmatic weakness, and cardiomyopathy leading to death usually within the first year of life. So far there is no therapy available. We report on the safety and efficacy of transgenically derived recombinant human precursor acid alpha-glucosidase (rhGAA) in a 10-month follow-up study in two children with IPD who previously completed a 48-week course of enzyme replacement therapy (ERT) with the same medication at the same dose in a phase II clinical trial. Under this therapy cardiac status and muscle strength had improved, leading to survival beyond the age of one year. These results, together with data from two other phase II clinical trials encouraged further evaluation of the long-term safety and efficacy of enzyme replacement therapy in patients with infantile-onset Pompe disease. During the 10-month follow-up period, ERT was well-tolerated and neither patient experienced a single infusion-associated reaction. The initial improvements in cardiac size and function, as measured by left ventricular mass index and the fractional shortening, were maintained in both patients, and a continued improvement of motor function, as measured by the Alberta infant motor scale, was observed.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany. lars.klinge@uni-essen.de
authors.forename: L
authors.initials: L
authors.lastname: Klinge
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.forename: U
authors.initials: U
authors.lastname: Neudorf
authors.forename: T
authors.initials: T
authors.lastname: Voit
mesh_terms: D000293:Adolescent; D000818:Animals; D030801:Animals, Genetically Modified / Q000378:metabolism; D004334:Drug Administration Schedule; D005069:Evaluation Studies as Topic; D005260:Female; D005500:Follow-Up Studies; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009043:Motor Activity / Q000187:drug effects; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism; D011994:Recombinant Proteins / Q000008:administration & dosage*; D013997:Time Factors; D016896:Treatment Outcome; D016277:Ventricular Function, Left / Q000187:drug effects; D000520:alpha-Glucosidases / Q000008:administration & dosage* / Q000378:metabolism
chemical_list: D011994:Recombinant Proteins; D006003:Glycogen; D000520:alpha-Glucosidases