1. Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.
- Author
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Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, and Lin SP
- Subjects
- Adolescent, Biomarkers urine, Biomechanical Phenomena, Child, Child, Preschool, Exercise Tolerance drug effects, Female, Forced Expiratory Volume, Glycosaminoglycans urine, Humans, Infant, Lung drug effects, Lung physiopathology, Male, Mucopolysaccharidosis IV diagnosis, Mucopolysaccharidosis IV enzymology, Mucopolysaccharidosis IV epidemiology, Mucopolysaccharidosis IV physiopathology, Range of Motion, Articular, Recombinant Proteins therapeutic use, Recovery of Function, Retrospective Studies, Shoulder Joint drug effects, Shoulder Joint physiopathology, Taiwan epidemiology, Time Factors, Treatment Outcome, Vital Capacity, Young Adult, Enzyme Replacement Therapy, Mucopolysaccharidosis IV drug therapy, N-Acetylgalactosamine-4-Sulfatase therapeutic use
- Abstract
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.
- Published
- 2010
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