Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil.
J Med Ethics. 2011 Apr;37(4):233-9. doi: 10.1136/jme.2010.037150. Epub 2011 Jan 25.
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.
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.
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%).
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.
背景/目的：黏多糖贮积症 I 型（MPS I）是一种罕见的溶酶体贮积症，可通过骨髓移植或用拉罗酶素（一种高成本的孤儿药）进行酶替代疗法进行治疗。拉罗酶素于 2003 年获得美国食品和药物管理局以及欧洲药品管理局的批准，并于 2005 年获得巴西国家卫生监督局的批准。尽管缺乏有关药物获取的政府政策，但许多巴西 MPS I 患者一直在接受拉罗酶素治疗。关于 MPS I 的流行病学和治疗数据非常有限。本研究旨在介绍巴西 MPS I 患者的人口统计学特征，描述巴西获取拉罗酶素的途径，并讨论与孤儿药公共资金相关的伦理问题。
在这项横断面观察性研究中，于 2008 年 1 月至 9 月间，通过专门为此目的设计的两种数据收集工具，在全国范围内从参与 MPS I 诊断和治疗的医生、公共机构和非政府组织收集数据。
巴西 MPS I 的最低患病率估计为 1/2700000。大多数患者（69.8%）年龄小于 15 岁；60 名（88.2%）接受了拉罗酶素治疗。获得该药的最常见途径是通过诉讼（86.6%）。
在巴西，MPS I 主要是一种儿科疾病。尽管拉罗酶素治疗的费用尚未得到巴西政府的正式报销，但大多数 MPS I 患者都在接受该药治疗，通常是通过诉讼。这在资源匮乏的背景下引发了有关药物获取的重大伦理冲突。巴西卫生政策框架缺乏针对孤儿药分配的循证临床方案。
