Brown Fran, Vargas Maximilian, Stanisic Sanja, Fatzinger Geoff, Iliach Oxana
Certara, Radnor, PA, United States.
Certara, Toronto, ON, Canada.
Front Med (Lausanne). 2025 Apr 2;12:1474087. doi: 10.3389/fmed.2025.1474087. eCollection 2025.
The introduction of the Orphan Drug Act in the USA in 1983, followed by adoption of the Orphan Drug Regulation No 141/2000 in the EU in 2000, led to a change in landscape of drug development for rare diseases. The introduction of regulations, guidance documents and incentives aimed at increasing the availability of new medicines for rare diseases resulted in an increase in approvals of 3 and 11-fold for branded products and generic medicines, respectively, in the decade 2013-2023 compared to 1990-2000. This effort was successful due to the collaboration of Regulatory Authorities, industry, patient groups and other stakeholders keen to leverage an integrated evidence approach using non-traditional approaches. While the regulatory approval landscape moved toward integration, the effective access to those medicines over the same period was globally fragmented with pricing and access determined at a local level. There is growing recognition of the importance of addressing the needs of rare disease patients and a concerted effort to balance innovation with affordability and access.
1983年美国出台了《孤儿药法案》，随后欧盟于2000年通过了第141/2000号孤儿药法规，这导致了罕见病药物研发格局的变化。旨在增加罕见病新药可及性的法规、指导文件和激励措施的出台，使得2013年至2023年这十年间，品牌药和仿制药的获批数量分别比1990年至2000年增长了3倍和11倍。由于监管机构、行业、患者群体和其他利益相关者热衷于采用非传统方法利用综合证据方法进行合作，这项努力取得了成功。虽然监管审批格局朝着整合方向发展，但同期这些药物的有效可及性在全球范围内却很分散，定价和可及性由地方层面决定。人们越来越认识到满足罕见病患者需求的重要性，并一致努力在创新与可负担性及可及性之间取得平衡。
