title: Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
abstract: Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-glucosidase. Clinical phenotypes range from the severe classic infantile form (hypotonia and hypertrophic cardiomyopathy), to milder late onset forms (skeletal myopathy and absence of significant heart involvement). Enzyme replacement therapy with recombinant human alpha-glucosidase derived from either rabbit milk or Chinese hamster ovary cells has been introduced and is undergoing clinical trials. Reported is a long-term follow-up of 3 Pompe patients presenting without cardiomyopathy, treated with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. This study suggests that enzyme replacement therapy can lead to significant motor and respiratory improvement in the subgroup of patients who start the therapy before extensive muscle damage has occurred. The recombinant enzyme derived from Chinese hamster ovary cells, administered at doses significantly higher than previously reported, appears to have the same safety as the drug derived from rabbit milk.
authors: Department of Pediatrics, Federico II University, Naples, Italy.
authors: Massimiliano
authors: M
authors: Rossi
authors: Giancarlo
authors: G
authors: Parenti
authors: Roberto
authors: R
authors: Della Casa
authors: Alfonso
authors: A
authors: Romano
authors: Giuseppina
authors: G
authors: Mansi
authors: Teresa
authors: T
authors: Agovino
authors: Felice
authors: F
authors: Rosapepe
authors: Carlo
authors: C
authors: Vosa
authors: Ennio
authors: E
authors: Del Giudice
authors: Generoso
authors: G
authors: Andria
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified; D016466:CHO Cells / Q000737:chemistry; D002675:Child, Preschool; D006224:Cricetinae; D003412:Cricetulus; D004185:Disability Evaluation; D004334:Drug Administration Schedule; D004341:Drug Evaluation; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D009043:Motor Activity / Q000187:drug effects; D011994:Recombinant Proteins / Q000627:therapeutic use*; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: D011994:Recombinant Proteins; D000520:alpha-Glucosidases