基于《第一批罕见病目录》的罕见病药物可及性研究

Research of Accessibility of Rare Disease Drugs Based on the China's First List of Rare Diseases

目的 梳理我国《第一批罕见病目录》的罕见病药物(孤儿药),并分析药物在国内外的可及性差异,完善与更新我国罕见病相关药物治疗现状,为罕见病药物治疗的管理和研究提供参考。方法 以《第一批罕见病目录》中的疾病为参考,检索其在美国食品药品监督管理局(Food and Drug Administration, FDA)和欧洲药品管理局(European Medicines Agency, EMA)获批上市的孤儿药,并提取已在我国国家药品监督管理局(National Medical Products Administration, NMPA)获得批准文号的药物品种;同时,检索我国药品说明书适应证批准用于罕见病治疗的药物品种,梳理罕见病治疗药物并分析其可及性。结果 截至2022年12月31日,获美国FDA或EMA批准且在NMPA获批上市的孤儿药,以及国内药品说明书批准罕见病适应证的药物,共计116种,覆盖53种罕见病。其中,美国FDA批准的孤儿药74种,覆盖44种罕见病;EMA批准的孤儿药36种,覆盖26种罕见病;国内药品说明书批准的药物93种,覆盖43种罕见病。在116种罕见病药物中,59种药物至少1种剂型具有国产批准文号,覆盖36种罕见病;69种药物至少1种剂型纳入国家医保报销范围,覆盖29种罕见病。结论 相较于《第一批罕见病目录》发布时,目前国外上市的孤儿药获批用于《第一批罕见病目录》疾病治疗的药物在我国的可及性及具有国产批准文号的孤儿药占比均显著提高,纳入国家医保报销范围的药品种类亦明显增加。

Objective This study aims to comprehensively analyze and categorize the rare disease medi-cations(orphan drugs)listed in the China's First List of Rare Diseases.It further investigates disparities in drug accessibility between domestic and international contexts,with the overarching goal of enhancing and updating the landscape of drug therapy for rare diseases within China.Additionally,this research seeks to offer valuable insights for the management and advancement of drug therapies for rare diseases.Methods Orphan drugs that have received approval from the U.S.Food and Drug Administration(FDA)and the European Medicines Agency(EMA)for indications relevant to the diseases featured in the China's First List of Rare Diseases were meticulously extracted for comparative analysis.Furthermore,data were extracted concerning the varieties sanc-tioned by the National Medical Products Administration(NMPA).This was coupled with a thorough search for drug varieties approved for rare diseases as indicated in drug instructions.The result was a meticulously curated list of rare disease medications.Accessibility parameters for the aforementioned drugs were rigorously examined.Results As of December 31,2022,a total of 116 rare disease drugs,having gained approval from the U.S.FDA,EMA,or NMPA and been available within the Chinese market,were found to effectively address 53 dif-ferent rare diseases.Among them,74 drugs,sanctioned by the U.S.FDA,were applicable to 44 diseases.Correspondingly,36 drugs,approved by the EMA,were relevant to 26 diseases,while NMPA-approved drugs numbered 93,spanning 43 diseases.Within the realm of these 116 rare disease drugs,59 possessed at least one drug dosage form with a domestically sanctioned approval number,providing treatment avenues for 36 rare dis-eases.Notably,69 drugs featured at least one drug formulation that was encompassed within the medical insur-ance framework and earmarked for rare disease treatment,contributing to coverage for 29 rare diseases.Conclusions Compared with the initial release of this list,it becomes evident that the accessibility of foreign orphan drugs,as well as the incorporation of domestic approval numbers,has significantly improved.Further-more,this research underscores the continued augmentation of the items included in the national medical insur-ance program,thereby signifying heightened accessibility and coverage.