title: Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
abstract: We examined the efficacy of 2-year enzyme replacement therapy (ERT) using recombinant human α-glucosidase (GAA; Myozyme®) in five long-term ventilator-dependent adults and aged patients with advanced, late-onset glycogen storage disease type II (GSDII, also known as Pompe disease). Although all patients had advanced respiratory failure and were ventilator-dependent for more than 6 years, four showed obvious improvements in muscle strength, pulmonary function, and activities of daily living after ERT. Improvement in each parameter was more prominent in the first year than in the second year. Values in the second year were still significantly better than those at study entry and indicate stabilization in the clinical status of all patients. These results suggest that ERT continues to be effective in the second year of treatment even in patients suffering from advanced late-onset GSDII disease with severe respiratory failure.
authors: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8551, Japan.
authors: Yoshihiko
authors: Y
authors: Furusawa
authors: Madoka
authors: M
authors: Mori-Yoshimura
authors: Toshiyuki
authors: T
authors: Yamamoto
authors: Chikako
authors: C
authors: Sakamoto
authors: Mizuki
authors: M
authors: Wakita
authors: Yoko
authors: Y
authors: Kobayashi
authors: Yutaka
authors: Y
authors: Fukumoto
authors: Yasushi
authors: Y
authors: Oya
authors: Tokiko
authors: T
authors: Fukuda
authors: Hideo
authors: H
authors: Sugie
authors: Yukiko K
authors: YK
authors: Hayashi
authors: Ichizo
authors: I
authors: Nishino
authors: Ikuya
authors: I
authors: Nonaka
authors: Miho
authors: M
authors: Murata
mesh_terms: D000203:Activities of Daily Living; D000328:Adult; D000368:Aged; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000201:enzymology*; D006801:Humans; D008134:Long-Term Care / Q000379:methods; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000187:drug effects; D011994:Recombinant Proteins / Q000627:therapeutic use*; D012131:Respiratory Insufficiency / Q000188:drug therapy / Q000201:enzymology; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: D011994:Recombinant Proteins; C509951:GAA protein, human; D000520:alpha-Glucosidases