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Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
  1. Raquel Boy1,
  2. Ida V D Schwartz2,3,
  3. Bárbara C Krug4,
  4. Luiz C Santana-da-Silva5,
  5. Carlos E Steiner6,
  6. Angelina X Acosta7,
  7. Erlane M Ribeiro8,
  8. Marcial F Galera9,
  9. Paulo G C Leivas10,
  10. Marlene Braz11
  1. 1Department of Paediatrics, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, Brazil
  2. 2Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil
  3. 3Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
  4. 4Graduate Program in Medicine: Medical Sciences, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil
  5. 5Inborn Errors of Metabolism Laboratory, Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, Para, Brazil
  6. 6Department of Medical Genetics, School of Medical Sciences, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil
  7. 7Department of Paediatrics, School of Medicine, Universidade Federal da Bahia (UFBA), Salvador, Bahia, Brazil
  8. 8Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil
  9. 9Medical Genetics and Molecular Biology Unit and Faculdade de Medicina, Universidade de Cuiabá (UNIC), Mato Grosso, Brazil
  10. 10Centro Universitário Ritter dos Reis (UniRitter), Porto Alegre, Rio Grande do Sul, Brazil
  11. 11Department of Education, Instituto Fernandes Figueira, Department of Social Sciences, ENSP/Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
  1. Correspondence to Professor Ida Vanessa Schwartz, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil; ischwartz{at}


Background/Aims Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder treated with bone marrow transplantation or enzyme replacement therapy with laronidase, a high-cost orphan drug. Laronidase was approved by the US Food and Drug Administration and the European Medicines Agency in 2003 and by the Brazilian National Health Surveillance Agency in 2005. Many Brazilian MPS I patients have been receiving laronidase despite the absence of a governmental policy regulating access to the drug. Epidemiological and treatment data concerning MPS I are scarce. This study aims to present a demographic profile of Brazilian patients with MPS I, describe the routes of access to laronidase in Brazil, and discuss associated ethical issues relating to public funding of orphan drugs.

Methods In this cross-sectional observational study, data were collected nationwide between January and September 2008 from physicians, public institutions and non-governmental organisations involved with diagnosis and treatment of MPS I, using two data collection instruments specifically designed for this purpose.

Results The minimum prevalence of MPS I in Brazil was estimated at 1/2 700 000. Most patients (69.8%) were younger than 15 years; 60 (88.2%) received laronidase. The most common route of access to the drug was through lawsuits (86.6%).

Conclusions In Brazil, MPS I is predominantly a paediatric illness. Even though the cost of laronidase treatment is not officially covered by the Brazilian government, most MPS I patients receive the drug, usually through litigation. This gives rise to major ethical conflicts concerning drug access in a low-resource context. The Brazilian health policy framework lacks evidence-based clinical protocols for the distribution of orphan drugs.

  • Allocation of health care resources
  • bioethics
  • concept of health
  • drugs and drug industry
  • health policy
  • mucopolysaccharidosis I
  • orphan drug access
  • quality/value of life/personhood
  • rare diseases

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  • Funding This research received financial support from the Ministry of Science and Technology/CNPq/Ministry of Health - SCTIE-DECIT - Grant no. 033/2007, Brazil.

  • Competing interests None declared.

  • Ethics approval This study was conducted with the approval of the Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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