目的 探討總結孤兒藥的研究現(xiàn)狀及趨勢，為本領域的未來發(fā)展提供相應的參考。方法 以中國學術期刊全文數(shù)據(jù)庫（CNKI）、Web of Science數(shù)據(jù)庫并以孤兒藥及其同義詞為檢索詞收集2000—2024年發(fā)表的文獻，借助Microsoft OfficeExcel 2017統(tǒng)計各年度發(fā)文量和高被引文獻，利用VOSviewer1.6.20、CiteSpace6.3R2展示作者、機構以及國家（地區(qū)）間的合作關系，并對關鍵詞進行分析以明確孤兒藥領域的研究現(xiàn)狀及熱點。結果 共納入263篇中文文獻以3 335篇英文文獻。中文發(fā)文趨勢基本呈持續(xù)上升態(tài)勢，英文文獻則進入發(fā)展緩慢期。整體而言，孤兒藥研究領域尚未形成規(guī)模較大且有影響力的學者；而國際機構間的合作較為成熟。同時，我國在本領域雖發(fā)文量較多，但尚缺乏國際合作。分析表明，國內外研究在孤兒藥的臨床試驗及用藥保障方面保持一致；而國外研究在孤兒藥研發(fā)方面優(yōu)勢明顯。突現(xiàn)分析顯示，目前孤兒藥的臨床用藥保障已成為國內外關注的熱點領域。結論 國內外孤兒藥研究既有一致性，也存在差異。目前國內外的研究熱點均聚焦在孤兒藥的用藥保障上，而孤兒藥研發(fā)及相關藥物發(fā)現(xiàn)方面仍是國內研究的短板領域，需待加強。

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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