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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| Format: | Article |
| Language: | English |
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Elsevier
2016-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916300283 |
| _version_ | 1817970992751837184 |
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| author | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Hsing Wang Yin-Hsiu Chien Yu-Mei Wang Fuu-Jen Tsai Yen-Yin Chou Shio Jean Lin Hui-Ping Pan Dau-Ming Niu Wuh-Liang Hwu Yu-Yuan Ke Shuan-Pei Lin |
| author_facet | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Hsing Wang Yin-Hsiu Chien Yu-Mei Wang Fuu-Jen Tsai Yen-Yin Chou Shio Jean Lin Hui-Ping Pan Dau-Ming Niu Wuh-Liang Hwu Yu-Yuan Ke Shuan-Pei Lin |
| author_sort | Hsiang-Yu Lin |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T20:41:06Z |
| format | Article |
| id | doaj.art-cbafc94b23c64b3babfbf52a9ad0bbf7 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-13T20:41:06Z |
| publishDate | 2016-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-cbafc94b23c64b3babfbf52a9ad0bbf72022-12-22T02:30:52ZengElsevierMolecular Genetics and Metabolism Reports2214-42692016-06-017C636910.1016/j.ymgmr.2016.04.003Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case seriesHsiang-Yu Lin0Chih-Kuang Chuang1Chung-Hsing Wang2Yin-Hsiu Chien3Yu-Mei Wang4Fuu-Jen Tsai5Yen-Yin Chou6Shio Jean Lin7Hui-Ping Pan8Dau-Ming Niu9Wuh-Liang Hwu10Yu-Yuan Ke11Shuan-Pei Lin12Department of Medicine, Mackay Medical College, New Taipei City, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Pediatrics, China Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, Changhua Christian Hospital, Changhua, TaiwanDepartment of Pediatrics, China Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, National Cheng Kung University Hospital, Tainan, TaiwanDepartment of Pediatrics, Chi Mei Medical Center, Tainan, TaiwanGenetic Center, National Cheng Kung University Hospital, Tainan, TaiwanInstitute of Clinical Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, Taichung Veterans General Hospital, Taichung, TaiwanDepartment of Medicine, Mackay Medical College, New Taipei City, TaiwanBackground: 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.http://www.sciencedirect.com/science/article/pii/S2214426916300283Cardiac hypertrophyDiastolic dysfunctionEnzyme replacement therapyGlycosaminoglycansMucopolysaccharidosis VIPulmonary function |
| spellingShingle | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Hsing Wang Yin-Hsiu Chien Yu-Mei Wang Fuu-Jen Tsai Yen-Yin Chou Shio Jean Lin Hui-Ping Pan Dau-Ming Niu Wuh-Liang Hwu Yu-Yuan Ke Shuan-Pei Lin Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Molecular Genetics and Metabolism Reports Cardiac hypertrophy Diastolic dysfunction Enzyme replacement therapy Glycosaminoglycans Mucopolysaccharidosis VI Pulmonary function |
| 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 | Cardiac hypertrophy Diastolic dysfunction Enzyme replacement therapy Glycosaminoglycans Mucopolysaccharidosis VI Pulmonary function |
| url | http://www.sciencedirect.com/science/article/pii/S2214426916300283 |
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