Office of Orphan Products Development, Office of the Commissioner, US Food and Drug Administration, 10903 New Hampshire Ave, Silver Spring, MD, 20993, USA.
Orphanet J Rare Dis. 2023 Jun 23;18(1):163. doi: 10.1186/s13023-023-02790-7.
Rare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare disease drug development revolution for these patients. Financial incentives provided by the ODA through its Orphan Drug Designation Program, in addition to remarkable scientific advances over the past 40 years, have led to hundreds of drug approvals for rare diseases. Our research examines the rare diseases that have been targeted by orphan drug designations and subsequent approvals since the law was enacted.
Using an internal FDA database, we classified and analyzed all orphan drug designations and approvals from 1983 to 2022 by disease and therapeutic area.
Over the 40 years of the ODA, 6,340 orphan drug designations were granted, representing drug development for 1,079 rare diseases. Additionally, 882 of those designations resulted in at least one FDA approval for use in 392 rare diseases. Much of this development has been concentrated in oncology as seven of the top ten most designated and approved diseases were rare cancers.
Researchers have estimated that there may be 7000-10,000 rare diseases that have been identified and described. Based on our study, we can conclude that around 5% of rare diseases have an FDA-approved drug and up to 15% of rare diseases have at least one drug that has been developed and shown promise in their treatment, diagnosis or prevention. Funding of basic and translational science for rare disease drug development should continue in order to bring therapies to the millions of affected patients who remain without treatment options.
罕见病影响着超过 3000 万美国人。1983 年，美国《孤儿药法案》（Orphan Drug Act，ODA）的通过，为这些患者的罕见病药物开发革命奠定了基础。ODA 通过其孤儿药认定计划提供的经济激励，加上过去 40 年来显著的科学进步，促成了数百种罕见病药物的批准。我们的研究考察了自该法律颁布以来，通过孤儿药认定和随后批准的针对罕见病的药物。
我们使用内部 FDA 数据库，按疾病和治疗领域对 1983 年至 2022 年期间所有的孤儿药认定和批准进行分类和分析。
在 ODA 的 40 年里，共授予了 6340 项孤儿药认定，代表了 1079 种罕见病的药物开发。此外，其中 882 项认定至少有一项 FDA 批准用于 392 种罕见病。大部分开发工作都集中在肿瘤学领域，因为十大最指定和批准的疾病中有七种是罕见癌症。
研究人员估计，可能有 7000-10000 种罕见病已经被识别和描述。基于我们的研究，我们可以得出结论，大约 5%的罕见病有 FDA 批准的药物，多达 15%的罕见病至少有一种药物在其治疗、诊断或预防方面得到了开发和验证。为了为数百万仍没有治疗选择的受影响患者带来疗法，应该继续为罕见病药物开发的基础和转化科学提供资金。
