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Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
Author(s) -
Lin HsiangYu,
Chen MingRen,
Chuang ChihKuang,
Chen ChihPing,
Lin DarShong,
Chien YinHsiu,
Ke YuYuan,
Tsai FuuJen,
Pan HuiPing,
Lin ShioJean,
Hwu WuhLiang,
Niu DauMing,
Lee NiChung,
Lin ShuanPei
Publication year - 2010
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/s10545-010-9212-5
Subject(s) - enzyme replacement therapy , medicine , vital capacity , mucopolysaccharidosis , pulmonary function testing , mucopolysaccharidosis type ii , mucopolysaccharidosis i , surgery , gastroenterology , diffusing capacity , disease , lung function , lung
Information regarding the clinical outcome of enzyme replacement therapy (ERT) with recombinant human N ‐acetylgalactosamine 4‐sulfatase (rhASB) for mucopolysaccharidosis (MPS) VI in Asian patients is limited. We reviewed nine Taiwanese patients with MPS VI (four males and five females; age range 1.4–21.1 years) treated with weekly intravenous infusions of rhASB (1.0 mg/kg) for at least 2 years. We assessed the biochemical and clinical response every 3 months. After 2 years of treatment, seven patients experienced improvement over baseline in the 6‐min walk by a mean of 69.3 m (27.3%), and seven also increased the 3‐min stair climb by a mean of 47 steps (35.7%). Shoulder range of motion in all patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.597 points (30.5%). Four patients had improved pulmonary function [forced expiratory volume in 1 s increased by 0.130 L (26.3%) and forced vital capacity by 0.148 L (27.6%)]. The respiratory disturbance index decreased in the four patients who underwent polysomnography. A mean overall 51% decrease in urinary glycosaminoglycan excretion indicated a satisfactory biochemical response. ERT was well tolerated by all patients. This treatment is thus beneficial and appears to be safe for treatment of MPS VI in Taiwanese patients.