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      Review of the use of idursulfase in the treatment of mucopolysaccharidosis II

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          Abstract

          Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a heterogeneous, progressive X-linked recessively inherited lysosomal storage disease that is caused by a deficiency of the enzyme iduronate-2-sulfatase, resulting in abnormal tissue accumulation of the glycosaminoglycans, dermatan sulfate and heparan sulfate. The disorder results from mutations in IDS, which is located at Xq28. Over 300 pathogenic mutations have been identified to date. The management of MPS II requires multidisciplinary care because of the many affected organ systems. Replacement of functional enzyme to involved tissues has been a focus of various therapies for several decades. The transplantation of hematopoietic stem cells provides enzymatic reconstitution in many target tissues, but the clinical response has been disappointing. Recently, enzyme replacement therapy with recombinant human iduronate-2-sulfatase (idursulfase, Elaprase ®; Shire HGT Pharmaceuticals, Cambridge MA, USA), was approved by the in the US and Europe as a safe and effective treatment for individuals with MPS II. This review presents a comprehensive overview of MPS II and summarizes the recent literature on therapy for the disease.

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          Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

          J. Wraith, Maurizio Scarpa, Michael Beck … (2007)
          Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade. Until recently, there has been no effective therapy for MPS II, and care has been palliative. Enzyme replacement therapy (ERT) with recombinant human iduronate-2-sulphatase (idursulfase), however, has now been introduced. Weekly intravenous infusions of idursulfase have been shown to improve many of the signs and symptoms and overall wellbeing in patients with MPS II. This paper provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS II and provides recommendations for the use of ERT. The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease.
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            Cumulative incidence rates of the mucopolysaccharidoses in Germany.

            F Baehner, C Schmiedeskamp, F Krummenauer … (2005)
            In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. Two cases of MPS IVB (beta-galactosidase deficiency) have been identified, but no patients with MPS VII or MPS IX. A relatively high number of patients with MPS IIIB, MPS IVA and MPS VI were of Turkish origin. The crude rate for all types of mucopolysaccharidoses is approximately 3.53 cases in 100,000 live births. The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses (3.4-4.5 in 100,000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed.
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              Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

              Timothy Cox, Robin Lachmann, Carla EM Hollak … (2000)
              Current treatment for Gaucher's disease involves administration of intravenous glucocerebrosidase to degrade glucocerebroside stored in lysosomes. Lowering the rate of biosynthesis of glucocerebroside should decrease accumulation of this substrate. We investigated the safety and efficacy of OGT 918 (N-butyldeoxynojirimycin), an inhibitor of glucosyltransferase, as a novel oral treatment for non-neuronopathic Gaucher's disease. We recruited, into a 1-year open-label study, 28 adults (seven with previous splenectomies) from four national Gaucher's referral clinics, who were unable or unwilling to receive enzyme treatment. We measured liver and spleen volume by computed tomography or magnetic resonance imaging at baseline and at months 6 and 12, and biochemical and haematological variables monthly, including chitotriosidase activity (a sensitive marker of Gaucher's disease activity). Patients were started on 100 mg oral OGT 918 three times daily. Baseline liver volumes were 1.1-2.7 times normal and spleen volumes 5.1-24.8 times normal. At 12 months, mean liver and spleen volumes were significantly lowered by 12% (95% CI 7.8-16.4) and 19% (14.3-23.7), respectively (each p<0.001). Haematological variables improved slightly. Mean organ volume and blood counts improved continually between 6 months and 12 months of treatment. Mean chitotriosidase concentrations fell by 16.4% over 12 months (p<.0001). Six patients withdrew because of gastrointestinal complaints (two), personal reasons (two), or severe pre-existing disease (two). The most frequent adverse effect was diarrhoea, which occurred in 79% of patients shortly after the start of treatment. Decrease of substrate formation by OGT 918 improves key clinical features of non-neuronopathic Gaucher's disease. The strategy justifies further trials in this and other glycosphingolipid storage disorders.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Biologics
                Journal ID (publisher-id): Biologics: Targets & Therapy
                Title: Biologics : Targets & Therapy
                Publisher: Dove Medical Press
                ISSN (Print): 1177-5475
                ISSN (Electronic): 1177-5491
                Publication date (Print): June 2008
                Publication date (Electronic): June 2008
                Volume: 2
                Issue: 2
                Pages: 311-320
                Affiliations
                The Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
                Author notes
                Correspondence: Nancy D Leslie, Cincinnati Children’s Hospital Medical Center, Division of Human Genetics, 3333, Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA, Tel +1 513 636 4760, Fax +1 513 636 7297, Email nancy.leslie@ 123456CCHMC.org
                Article
                Publisher ID: btt-2-311
                PMC ID: 2721351
                PubMed ID: 19707363
                SO-VID: 582b2553-fbab-4baf-85e5-38c714705947
                Copyright © © 2008 Dove Medical Press Limited. All rights reserved
                History
                Categories
                Subject: Review

                Keywords: hunter syndrome,mucopolysaccharidosis type ii,enzyme replacement therapy
                Data availability:
                Keywords: hunter syndrome, mucopolysaccharidosis type ii, enzyme replacement therapy

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