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Effects of enzyme replacement therapy on five patients with advanced late‐onset glycogen storage disease type II: a 2‐year follow‐up study
Author(s) -
Furusawa Yoshihiko,
MoriYoshimura Madoka,
Yamamoto Toshiyuki,
Sakamoto Chikako,
Wakita Mizuki,
Kobayashi Yoko,
Fukumoto Yutaka,
Oya Yasushi,
Fukuda Tokiko,
Sugie Hideo,
Hayashi Yukiko K.,
Nishino Ichizo,
aka Ikuya,
Murata Miho
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9393-6
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , medicine , respiratory failure , pulmonary function testing , disease , respiratory system , pediatrics
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.