目的 探讨总结孤儿药的研究现状及趋势，为本领域的未来发展提供相应的参考。方法 以中国学术期刊全文数据库（CNKI）、Web of Science数据库并以孤儿药及其同义词为检索词收集2000—2024年发表的文献，借助Microsoft OfficeExcel 2017统计各年度发文量和高被引文献，利用VOSviewer1.6.20、CiteSpace6.3R2展示作者、机构以及国家（地区）间的合作关系，并对关键词进行分析以明确孤儿药领域的研究现状及热点。结果 共纳入263篇中文文献以3 335篇英文文献。中文发文趋势基本呈持续上升态势，英文文献则进入发展缓慢期。整体而言，孤儿药研究领域尚未形成规模较大且有影响力的学者；而国际机构间的合作较为成熟。同时，我国在本领域虽发文量较多，但尚缺乏国际合作。分析表明，国内外研究在孤儿药的临床试验及用药保障方面保持一致；而国外研究在孤儿药研发方面优势明显。突现分析显示，目前孤儿药的临床用药保障已成为国内外关注的热点领域。结论 国内外孤儿药研究既有一致性，也存在差异。目前国内外的研究热点均聚焦在孤儿药的用药保障上，而孤儿药研发及相关药物发现方面仍是国内研究的短板领域，需待加强。

Objective To explore and summarize the research status and trends in the field of orphan drug, and provide corresponding references for the future development of this field. Methods The related literature published from 2000 to 2024 in China National Knowledge Infrastructure and Web of Science databases was collected by using orphan drug and its synonyms as search terms. Microsoft Office Excel 2017 was applied to calculate the number of annual publication volume and highly cited articles. VOSviewer 1.6.20 and CiteSpace 6.3R2 were used to display the collaborative relationships between authors, institutions, and countries(regions), and keywords were analyzed to clarify the research status and hotspots in the field of orphan drug. Results Finally, a total of 263 Chinese literature and 3 335 English literature were included. The trend of Chinese publications was generally on the rise, while English literature had entered a period of slow development. Generally speaking, the field of orphan drug had not yet formed a large-scale and influential authors; While the cooperation between international institutions was relatively mature. At the same time, although China had published a large number of articles in this field, there was still a lack of international cooperation. The results demonstrated that domestic and foreign research was consistent in the clinical trials and medication guarantee of orphan drugs. However, foreign research had obvious advantages in the development of orphan drugs. Keyword emergence analysis showed that the clinical medication guarantees of orphan drugs had become a hot topic of concern both domestically and internationally. Conclusion This study systematically summarizes and explores the current research status and hot trends in the global orphan drug field by analyzing the relevant literature from 2000 to 2024 based on bibliometric, and further points out the similarities and differences in orphan drug research at home and abroad, which can provide corresponding references for future research in this field.

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