Haffner Marlene E
FDA Office of Orphan Products Development, Food and Drug Administration, Rockville, MD 20857, USA.
Mol Genet Metab. 2004 Apr;81 Suppl 1:S63-6. doi: 10.1016/j.ymgme.2003.10.015.
Disorders resulting from inborn errors of metabolism (IEM) affect very small numbers of individuals. The entire population, however, of patients suffering the results of inherited metabolic disorders is large, and has been of increasing concern to patient groups and health care professionals in the United States as well as other countries throughout the world. The 1983 US Orphan Drug Act (ODA) serves to facilitate the development of drugs to treat rare diseases by providing several economic incentives. The sponsor of a product designated as an orphan by the Food & Drugs Administration (FDA) Office of Orphan Products Development (OPD) qualifies for tax credits on clinical trial expenses, the award of grant funding by FDA, through the OPD, and 7 years of marketing exclusivity for a designated drug, or biological product that receives FDA market approval. Orphan drug legislation in the US has benefited victims of IEM by encouraging development of drugs for metabolic deficiencies affecting populations that otherwise would be ignored. America's solution to the orphan drug problem has had worldwide impact. The success of this legislation was a factor leading to the 1993 orphan drug law in Japan; the 1997 implementation of a process whereby most FDA-approved orphan drugs and biological products will be similarly approved in Australia; and, in 1999, regulation on orphan medicinal products in the European Union (EU). Today, international support for rare disease research is providing stimulus and motivation to overcome the financial barriers and encourage development of treatment for very rare diseases throughout the world.
由先天性代谢缺陷（IEM）导致的疾病仅影响极少数个体。然而，患有遗传性代谢紊乱疾病的患者总数却很多，这已日益引起美国以及世界其他国家患者群体和医疗保健专业人员的关注。1983年美国《孤儿药法案》（ODA）通过提供多种经济激励措施，促进治疗罕见病药物的研发。被美国食品药品监督管理局（FDA）孤儿产品开发办公室（OPD）指定为孤儿药的产品赞助商，有资格获得临床试验费用的税收抵免、FDA通过OPD授予的资助，以及对获得FDA市场批准的指定药物或生物制品给予7年的市场独占权。美国的孤儿药立法通过鼓励研发针对那些否则会被忽视人群的代谢缺陷药物，使IEM患者受益。美国解决孤儿药问题的办法在全球产生了影响。这项立法的成功是促成日本1993年孤儿药法、1997年澳大利亚实施一项程序（据此大多数FDA批准的孤儿药和生物制品将同样获得批准）以及1999年欧盟对孤儿药品进行监管的一个因素。如今，国际社会对罕见病研究的支持正在提供动力，以克服资金障碍，并鼓励全世界研发针对极罕见疾病的治疗方法。
