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      Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia

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          Abstract

          Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discuss the ethical and economic considerations, regarding both direct and indirect costs, of a high-cost orphan disease in a marginalised minority population in a developing country.

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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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            Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

            Laila Arash, , Ida Vanessa Schwartz … (2006)
            The objective of this Phase 3 study was to confirm the efficacy and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare, fatal lysosomal storage disease with no effective treatment. Thirty-nine patients with MPS VI were evaluated in a randomized, double-blind, placebo-controlled, multicenter, multinational study for 24 weeks. The primary efficacy variable was the distance walked in a 12-minute walk test (12MWT), whereas the secondary efficacy variables were the number of stairs climbed in a 3-minute stair climb (3MSC) and the level of urinary glycosaminoglycan (GAG) excretion. All patients received drug in an open-label extension period for an additional 24 weeks. After 24 weeks, patients receiving rhASB walked on average 92 meters (m) more in the 12MWT (p=.025) and 5.7 stairs per minute more 3MSC (p=.053) than patients receiving placebo. Continued improvement was observed during the extension study. Urinary GAG declined by -227+/-18 microg/mg more with rhASB than placebo (p<.001). Infusions were generally safe and well tolerated. Patients exposed to drug experienced positive clinical benefit despite the presence of antibody to the protein. rhASB significantly improves endurance, reduces GAG, and has an acceptable safety profile.
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              Management guidelines for mucopolysaccharidosis VI.

              James E Wraith, Roberto Giugliani, Paul Harmatz (2007)
              Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controlled trials, meta-analyses, systematic reviews, and expert opinion. In support of this goal, comprehensive management guidelines have been drafted by an international group of experts in the management of patients with mucopolysaccharidosis VI. The guidelines provide a detailed outline of disease manifestations by body system, recommendations for regular assessments, and an overview of current treatment options.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Med Ethics
                Journal ID (iso-abbrev): J Med Ethics
                Journal ID (publisher-id): jme
                Journal ID (hwp): medethics
                Title: Journal of Medical Ethics
                Publisher: BMJ Group (BMA House, Tavistock Square, London, WC1H 9JR )
                ISSN (Print): 0306-6800
                ISSN (Electronic): 1473-4257
                Publication date (Print): November 2013
                Publication date (Electronic): 1 May 2012
                Volume: 38
                Issue: 11
                Pages: 699-700
                Affiliations
                [1 ]Clinical Epidemiology and Biostatistics, Pontificia Universidad Javeriana, Bogota, Colombia
                [2 ]Department of Neuropediatrics, Fundacion Cardioinfantil, Bogota, Colombia
                Author notes
                [Correspondence to ] Dr Diego Rosselli, Clinical Epidemiology and Biostatistics, Pontificia Universidad Javeriana, Carrera 7 No 40-62, Bogota 110311, Colombia; diego.rosselli@ 123456gmail.com
                Article
                Publisher ID: medethics-2011-100204
                DOI: 10.1136/medethics-2011-100204
                PMC ID: 3582064
                PubMed ID: 22550061
                SO-VID: 67a60855-b5dc-441f-8e72-900f69669f39
                Copyright © Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/2.0/ and http://creativecommons.org/licenses/by-nc/2.0/legalcode.

                History
                Date received : 25 August 2011
                Date revision received : 8 February 2012
                Date accepted : 5 April 2012
                Categories
                Subject: 1506
                Subject: Brief Reports
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                ScienceOpen disciplines: Ethics
                Keywords: research on special populations,social aspects,clinical ethics,cultural pluralism,health economics
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                ScienceOpen disciplines: Ethics
                Keywords: research on special populations, social aspects, clinical ethics, cultural pluralism, health economics

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