title: Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Medical College, Fu-Jen Catholic University, Taipei, Taiwan; Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan.
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.affiliation: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.affiliation: Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.affiliation: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Yen-Yin
authors.initials: YY
authors.lastname: Chou
authors.affiliation: Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
authors.forename: Shio Jean
authors.initials: SJ
authors.lastname: Lin
authors.affiliation: Genetic Center, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Pan
authors.affiliation: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Yu-Yuan
authors.initials: YY
authors.lastname: Ke
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
keywords: 3MSCT, 3-minute stair climb test; 6MWT, 6-minute walk test; AC, air conduction; ASB, N-acetylgalactosamine 4-sulfatase; BC, bone conduction; BMD, bone mineral density; CHAQ, Childhood Health Assessment Questionnaire; Cardiac hypertrophy; DXA, dual energy x-ray absorptiometry; Diastolic dysfunction; E/A, ratio between early and late (atrial) ventricular filling velocity; ERT, enzyme replacement therapy; Enzyme replacement therapy; FEV1, forced expiratory volume in 1 s; FVC, Forced vital capacity; GAG, glycosaminoglycan; Galsulfase, recombinant human N-acetylgalactosamine 4-sulfatase; Glycosaminoglycans; HAQ, Health Assessment Questionnaire; HAZ, height-for-age; IVSd, interventricular septum thickness in diastole; LVM, left ventricular mass; LVMI, left ventricular mass index; LVPWd, left ventricular posterior wall thickness in diastole; MPS, mucopolysaccharidosis; Mucopolysaccharidosis VI; PTA, pure-tone audiometry; Pulmonary function; Z score, standard deviation score