Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Lin, Hui-Chen; Chen, Ming Ren; Chuang, Chih Kuang; Chen, Chih‐Ping; Lin, Dar Shong; Chien, Yin‐Hsiu; Ke, Yu; Tsai, Fuu Jen; Pan, Hui; Lin, Shio Jean; Hwu, Wuh‐Liang; Niu, Dau Ming; Lee, Ni‐Chung; Lin, Shuan Pei

doi:10.1007/s10545-010-9212-5

Cited by 23 publications

(50 citation statements)

References 23 publications

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“…The clinical phenotypes and biochemical profiles of the patient, including elevated urinary GAG content and low leukocyte ARSB activity, were consistent with those observed previously in MPS VI patients (Lin et al 2008;Lin et al 2010). For this reason, we performed a molecular analysis of ARSB.…”

Section: Resultssupporting

confidence: 83%

“…The live birth incidence of MPS VI in Taiwan over that period, therefore, was approximately 1 in 875,000. ERT has been proven effective at reducing MPS VI symptoms (Lin et al 2010;Furujo et al 2011), and the total cost of ERT is now covered by the Taiwanese government. For Copy number of ARSB was determined for exons 3-5 using qPCR.…”

Section: Resultsmentioning

confidence: 99%

“…The incidence of MPS VI varies among different populations, ranging from 1 in 248,000 to 1 in 1,300,000 live births (Poorthuis et al 1999;Neufeld and Muenzer 2001;Pinto et al 2004;Brooks et al 2005;Lin et al 2008;Valayannopoulos et al 2010). Over the past decade, enzyme replacement therapy (ERT), using recombinant human ARSB (rhASB), has significantly improved the efficacy of treating early stages of MPS VI (Harmatz et al 2004(Harmatz et al , 2006 and similar improvements have been reported for treated patients living in Asia (Lin et al 2010;Furujo et al 2011).…”

Section: Introductionmentioning

confidence: 94%

“…Based on these clinical and biochemical findings, the patient was diagnosed with MPS VI. ERT protocols were carefully designed for this patient and performed in accordance with previously published literature and guidelines (Lin et al 2010).…”

Section: Patient Informationmentioning

confidence: 99%

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Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

Lin

Chou

et al. 2015

Tohoku J. Exp. Med.

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Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB), one of the enzymes required for the degradation of dermatan sulfate (DS). Accumulation of DS in connective tissue causes growth failure, resulting in short stature. Here, we observed a 5-year-old girl who was the only one affected member of her family and who presented with an exaggerated, convex curvature of the back at the age of one year. Abnormal excretion of DS in the urine and extremely low leukocyte ARSB activity were noted. The patient was suspected to have MPS VI. Direct DNA sequencing indicated that there was no mutation in the coding region of ARSB. However, RT-PCR analysis of RNA prepared from blood samples indicated the deletion of the entire exon 4. Further analysis of the genomic DNA by quantitative PCR confirmed a homozygous deletion of exon 4, an unusual intragenic deletion in ARSB. The deletion led to a truncated protein that lacks most of the catalytic domain. The patient received recombinant human ARSB as enzyme replacement therapy (ERT) at an early stage (2 years), and responded positively in terms of skeletal development and other developmental milestones. The early identification of type VI MPS patients and subsequent treatment with ERT may be beneficial for the clinical outcome of MPS VI patients. In addition, detailed gene analysis may enhance the ability to provide genetic counseling to families of patients affected by MPS VI.

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Section: Resultssupporting

confidence: 83%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 94%

Section: Patient Informationmentioning

confidence: 99%

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Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

Lin

Chou

et al. 2015

Tohoku J. Exp. Med.

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“…ERT is used in patients with MPS type I, II and VI [154][155][156][157], and beneficial effects on lung function and OSAS have been described [158][159][160][161]. A significant increase of forced vital capacity, probably resulting from chest wall impedance improvement to lung expansion, and a decrease of the apnoea/hypopnoea index, Prevention or improvement of dysphagia and airway aspiration (type C) [118] Regression of infiltrates at chest imaging (type B and C) [32,138] Not available …”

Section: Disease-specific Therapymentioning

confidence: 99%

Respiratory manifestations in patients with inherited metabolic diseases

Santamaria

Montella

Mirra

et al. 2013

European Respiratory Review

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Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases, either at presentation or as late-onset features. This review will describe the most exemplary respiratory manifestations of inherited metabolic diseases in childhood and adulthood. Since airways disease worsens the morbidity of many inherited metabolic disorders, leading to increased hospitalisations, mortality and overall healthcare costs, respiratory manifestations of inherited metabolic diseases need to be carefully recognised and treated. All patients with inherited metabolic disease and suspected airway disease should undergo a detailed diagnostic work-up. Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. The integration of several specialists dedicated to airway disease management in a multidisciplinary team is essential to provide the most appropriate care to children and adults with inherited metabolic disease. @ERSpublications Proper management of respiratory disease is mandatory for reducing morbidity and mortality of inherited metabolic disease

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Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

Sohn

Park

Kim

et al. 2012

American J of Med Genetics Pt A

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Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe skeletal abnormalities. Bone marrow transplantation (BMT) improves cardiopulmonary function and facial features, but has limited success in ameliorating skeletal abnormalities and short stature. Here, we report the outcome of enzyme replacement therapy (ERT) with recombinant human arylsulfatase-B (ASB, Naglazyme, BioMarin, Novato, CA) in an MPS VI patient who received BMT 10 years prior to ERT induction. Administration of weekly Naglazyme for 18 months was effective in improving range of motion in several joints [shoulders (improvement of flexion (Right/Left): 40°/55°; improvement of extension 30°/40°; improvement of abduction 10°/10°), elbows (improvement of flexion 25°/25°; improvement of extension 10°/15°), hips (improvement of flexion 25°/10°), and knees (improvement of flexion 45°/40°; improvement of extension 50°/60°)]. Improvement in the outcome of the 12-min walk test (70% increase) and 3-min stair-climbing test (29% increase) was also noted after ERT. Because ERT improved clinical features in an MPS VI patient who had undergone prior BMT, the role of ERT post successful BMT in MPS VI needs further investigation.

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Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Cited by 23 publications

References 23 publications

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI

Respiratory manifestations in patients with inherited metabolic diseases

Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

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