Objective  This study aims to comprehensively analyze and categorize the rare disease medications(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 sanctioned 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 different 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 diseases. Notably, 69 drugs featured at least one drug formulation that was encompassed within the medical insurance 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. Furthermore, this research underscores the continued augmentation of the items included in the national medical insurance program, thereby signifying heightened accessibility and coverage.