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Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

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 Taiw...

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Autores principales: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Wang, Chung-Hsing, Chien, Yin-Hsiu, Wang, Yu-Mei, Tsai, Fuu-Jen, Chou, Yen-Yin, Lin, Shio Jean, Pan, Hui-Ping, Niu, Dau-Ming, Hwu, Wuh-Liang, Ke, Yu-Yuan, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834679/
https://www.ncbi.nlm.nih.gov/pubmed/27134829
http://dx.doi.org/10.1016/j.ymgmr.2016.04.003
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author Lin, Hsiang-Yu
Chuang, Chih-Kuang
Wang, Chung-Hsing
Chien, Yin-Hsiu
Wang, Yu-Mei
Tsai, Fuu-Jen
Chou, Yen-Yin
Lin, Shio Jean
Pan, Hui-Ping
Niu, Dau-Ming
Hwu, Wuh-Liang
Ke, Yu-Yuan
Lin, Shuan-Pei
author_facet Lin, Hsiang-Yu
Chuang, Chih-Kuang
Wang, Chung-Hsing
Chien, Yin-Hsiu
Wang, Yu-Mei
Tsai, Fuu-Jen
Chou, Yen-Yin
Lin, Shio Jean
Pan, Hui-Ping
Niu, Dau-Ming
Hwu, Wuh-Liang
Ke, Yu-Yuan
Lin, Shuan-Pei
author_sort Lin, Hsiang-Yu
collection PubMed
description 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.
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spelling pubmed-48346792016-04-29 Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin, Hsiang-Yu Chuang, Chih-Kuang Wang, Chung-Hsing Chien, Yin-Hsiu Wang, Yu-Mei Tsai, Fuu-Jen Chou, Yen-Yin Lin, Shio Jean Pan, Hui-Ping Niu, Dau-Ming Hwu, Wuh-Liang Ke, Yu-Yuan Lin, Shuan-Pei Mol Genet Metab Rep Research Paper 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. Elsevier 2016-04-18 /pmc/articles/PMC4834679/ /pubmed/27134829 http://dx.doi.org/10.1016/j.ymgmr.2016.04.003 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
Lin, Hsiang-Yu
Chuang, Chih-Kuang
Wang, Chung-Hsing
Chien, Yin-Hsiu
Wang, Yu-Mei
Tsai, Fuu-Jen
Chou, Yen-Yin
Lin, Shio Jean
Pan, Hui-Ping
Niu, Dau-Ming
Hwu, Wuh-Liang
Ke, Yu-Yuan
Lin, Shuan-Pei
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title_full Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title_fullStr Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title_full_unstemmed Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title_short Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
title_sort long-term galsulfase enzyme replacement therapy in taiwanese mucopolysaccharidosis vi patients: a case series
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834679/
https://www.ncbi.nlm.nih.gov/pubmed/27134829
http://dx.doi.org/10.1016/j.ymgmr.2016.04.003
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