Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

• Published in: Journal of inherited metabolic disease 2012-03, Vol.35 (2), p.301-310
• Main Authors: Furusawa, Yoshihiko, Mori-Yoshimura, Madoka, Yamamoto, Toshiyuki, Sakamoto, Chikako, Wakita, Mizuki, Kobayashi, Yoko, Fukumoto, Yutaka, Oya, Yasushi, Fukuda, Tokiko, Sugie, Hideo, Hayashi, Yukiko K., Nishino, Ichizo, Nonaka, Ikuya, Murata, Miho
• Format: Article
• Language: English
• Subjects: Activities of Daily Living; Adult; Aged; alpha-Glucosidases - therapeutic use; Biochemistry; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Enzyme Replacement Therapy - methods; Errors of metabolism; Female; Follow-Up Studies; Glycogen Storage Disease Type II - drug therapy; Glycogen Storage Disease Type II - enzymology; Human Genetics; Humans; Internal Medicine; Long-Term Care - methods; Male; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Middle Aged; Miscellaneous; Muscle Strength - drug effects; Original Article; Pediatrics; Public health. Hygiene; Public health. Hygiene-occupational medicine; Recombinant Proteins - therapeutic use; Respiratory Insufficiency - drug therapy; Respiratory Insufficiency - enzymology; Treatment Outcome
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-011-9393-6

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.