|Title:||Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series||Authors:||Lin, Hsiang-Yu
Lin, Shio Jean
|Issue Date:||2016||Publisher:||Elsevier Inc.||Journal Volume:||7||Start page/Pages:||63-69||Source:||Molecular Genetics and Metabolism Reports||Abstract:||
Background: 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.
|ISSN:||2214-4269||DOI:||10.1016/j.ymgmr.2016.04.003||SDG/Keyword:||galsulfase; 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 adult
|Appears in Collections:||醫學系|
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