Lin, Hsiang-YuHsiang-YuLinChuang, Chih-KuangChih-KuangChuangWang, Chung-HsingChung-HsingWangYIN-HSIU CHIENWang, Yu-MeiYu-MeiWangTsai, Fuu-JenFuu-JenTsaiChou, Yen-YinYen-YinChouLin, Shio JeanShio JeanLinPan, Hui-PingHui-PingPanNiu, Dau-MingDau-MingNiuWUH-LIANG HWUKe, Yu-YuanYu-YuanKeSHAU-PING LIN2020-12-242020-12-2420162214-4269https://www.scopus.com/inward/record.uri?eid=2-s2.0-84964854779&doi=10.1016%2fj.ymgmr.2016.04.003&partnerID=40&md5=98db0d52e430294b5d9f546eeac15bd6https://scholars.lib.ntu.edu.tw/handle/123456789/531357Background: Information regarding the long-term outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB, galsulfase, Naglazyme?, BioMarin Pharmaceutical Inc.) for Taiwanese patients with mucopolysaccharidosis (MPS) VI is limited. Methods: Nine Taiwanese patients with MPS VI (4 males and 5 females; age range, 1.4 to 21.1 years) treated with weekly intravenous infusions of galsulfase (1.0 mg/kg) in 5 medical centers in Taiwan were reviewed. A set of biochemical and clinical assessments were evaluated annually. Results: After 6.2 to 11.2 years of galsulfase treatment, 6 patients experienced improvement over baseline in the 6-minute walk test by a mean of 150 m (59% change over time), and 3 patients also increased the 3-minute stair climb test by a mean of 60 steps (46%). In a manual dexterity test, 3 patients decreased the time required to pick up 10 coins and put the coins into a cup by 15 s (33%). Shoulder range of motion in all 9 patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.42 points (21%). Four patients showed improved pulmonary function. Five patients had positive effects on cardiac-wall diameters. Four patients had improved cardiac diastolic function. Liver and spleen sizes as measured by abdominal ultrasonography remained the same or decreased in all 9 patients. However, the severity degree of valvular stenosis or regurgitation did not show improvement despite ERT. A mean overall 69% decrease in urinary glycosaminoglycan (GAG) excretion indicated a satisfactory biomarker response. Conclusions: Long-term ERT was beneficial and safe for Taiwanese patients with MPS VI. This treatment reduced urinary GAG and had positive effects on a wide range of clinical functional assessments including endurance, mobility, joint function, pulmonary function, liver and spleen size, cardiac hypertrophy and diastolic dysfunction. ? 2016 The Authors. Published by Elsevier Inc.[SDGs]SDG3galsulfase; glycosaminoglycan; adolescent; adult; Article; child; clinical article; dexterity test; diastole; disease severity; drug hypersensitivity; dyspnea; echography; enzyme replacement; female; fever; forced expiratory volume; forced vital capacity; heart size; heart valve regurgitation; heart valve stenosis; human; Joint Pain and Stiffness Questionnaire; liver size; long term care; male; Maroteaux Lamy syndrome; musculoskeletal disease assessment; preschool child; range of motion; retrospective study; school child; shoulder; skin pruritus; spleen size; Taiwanese; treatment outcome; urinary excretion; urticaria; young adultjournal article10.1016/j.ymgmr.2016.04.0032-s2.0-84964854779