National Organization for Rare Disorders (NORD), Danbury, CT 06813-1968, USA.
Adv Exp Med Biol. 2010;686:515-25. doi: 10.1007/978-90-481-9485-8_28.
One of the remarkable and unique aspects of the recent history of rare disease research has been the evolving role of patient advocacy groups and the collaborative partnership that exists among such groups and the scientists who study rare diseases, as well as the government officials charged with overseeing medical research and regulatory processes. This collaboration, which in many respects developed out of necessity on all sides, is unparalleled in other areas of medical research and product development. It has played a significant role over the past 30 years in the adoption of public policies, available research funding and other factors affecting the general climate for research on rare diseases. Specific areas of interest include the adoption of the Orphan Drug Act in the U.S. in 1983 and subsequent similar legislation elsewhere in the world; the relationship of patient advocacy groups with government research funding and regulatory entities; the role of patient advocacy groups in seeking to "de-risk" orphan product development through initiatives such as facilitating patient registries and disease natural histories; the role of advocacy groups in ensuring that patients have access to treatments; and the increasing globalization of patient advocacy initiatives.
罕见病研究的近期历史中一个显著而独特的方面是，患者倡导团体的作用不断演变，以及这些团体与研究罕见病的科学家以及负责监督医学研究和监管过程的政府官员之间存在着合作关系。这种合作在许多方面都是出于各方的需要而发展起来的，在其他医学研究和产品开发领域是无与伦比的。在过去 30 年中，它在采用公共政策、可用的研究资金和影响罕见病研究总体氛围的其他因素方面发挥了重要作用。特别关注的领域包括 1983 年美国《孤儿药法案》的通过以及世界其他地区随后类似的立法；患者倡导团体与政府研究资金和监管实体的关系；患者倡导团体通过促进患者登记和疾病自然史等举措来寻求“降低”孤儿产品开发风险的作用；倡导团体在确保患者获得治疗方面的作用；以及患者倡导倡议的日益全球化。
