Research of Accessibility of Rare Disease Drugs Based on the First Rare Disease Catalogue

Objective To sort out the rare disease drugs in the First Batch of Rare Disease Catalogue， and analyze the differences in the accessibility of drugs at home and abroad， improve and update the status of drug therapy for rare diseases in China， and provide reference for the management and research of drug therapy for rare diseases. Method Orphan drugs approved by the U.S. Food & Drug Administration (FDA) and the European Medicines Agency (EMA) for related indications for the diseases listed in the First Rare Diseases Catalogue were retrieved for reference. Besides， we extracted the varieties approved by the National Medical Products Administration (NMPA)， searched the drug varieties approved for rare diseases in the indications of drug instructions， and sorted out the list of rare disease drugs. The accessibility of the above-mentioned drugs was analyzed. Results As of December 31， 2022， 116 rare disease drugs approved by U.S. FDA， EMA or NMPA and marketed in China covered 53 rare diseases. Among them， 74 drugs approved by U.S. FDA， covered 41 diseases. 39 drugs approved by the EMA， covered 27 diseases. 94 drugs approved by the NMPA， covered 38 diseases. Among 116 rare disease drugs， 59 had at least one drug dosage form with domestic approval number， covering 36 rare diseases； 64 drugs had at least one drug form included in the medical insurance and used for rare diseases， and 28 rare diseases were covered. Conclusions At present， 116 orphan drugs listed abroad or approved in Chinese drug specifications have been used for the treatment of diseases in the first Batch of Rare Diseases Catalogue. Compared with the release of the first batch of Rare Diseases Catalogue， the accessibility and the composition of domestic approval numbers of foreign orphan drugs accessibility increased, and the number of items included in the national medical insurance have been further improved.