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Among these, the designation of orphan drugs serves as the pivotal and core element of the national incentive mechanism for such drugs. The designation of orphan drugs is a prerequisite and a key system to determine whether pharmaceutical enterprises are eligible to access policy support, which directly determines the effective output of orphan drugs and the fairness of public policies. However, there is still an urgent need to explore this system in China theoretically, and there is still a gap in legislation. This is an important root cause of the insufficient supply of orphan drugs in China. Therefore, on the premise of understanding its nature, and on the basis of reasonable reference to the existing legislation in overseas countries, and based on China\u2019s realities and legislative framework, we should construct and improve China\u2019s orphan drug designation system as soon as possible, so as to increase the rate of R&amp;D and marketing of orphan drugs, enhance the level of treatment for patients with rare diseases, and help the smooth realization of the \u201cHealthy China Strategy\u201d.<\/jats:p>","DOI":"10.1186\/s13023-026-04404-4","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T14:45:05Z","timestamp":1779720305000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare disease patients protection: theoretical discussion and institutional construction of orphan drug designation in China"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8362-6966","authenticated-orcid":false,"given":"Xiaopei","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengyao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"key":"4404_CR1","unstructured":"Rare Disease Info Org. 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