title: Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
abstract: We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts from skeletal muscle biopsies of patients with GSD IIIa. We demonstrated that rhGAA significantly reduced glycogen levels in the two GSD IIIa patients' muscle cells (by 17% and 48%, respectively) suggesting that rhGAA could be a novel therapy for GSD III. This conclusion needs to be confirmed in other in vivo models.
authors: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. baodong.sun@duke.edu
authors: Baodong
authors: B
authors: Sun
authors: Keri
authors: K
authors: Fredrickson
authors: Stephanie
authors: S
authors: Austin
authors: Adviye A
authors: AA
authors: Tolun
authors: Beth L
authors: BL
authors: Thurberg
authors: William E
authors: WE
authors: Kraus
authors: Deeksha
authors: D
authors: Bali
authors: Yuan-Tsong
authors: YT
authors: Chen
authors: Priya S
authors: PS
authors: Kishnani
mesh_terms: D000328:Adult; D056947:Enzyme Replacement Therapy; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006010:Glycogen Storage Disease Type III / Q000188:drug therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: D006003:Glycogen; C509951:GAA protein, human; D000520:alpha-Glucosidases