LAUSR

Abstract Background Orphaned because of low prevalence and barely recoverable medical costs, patients with rare diseases are disproportionately deprived of life-saving treatment. In China, an estimated 16·8 million patients suffer from rare diseases. This substantial burden could potentially be addressed through policies that optimise research and development, licensing, pricing, and reimbursement of orphan drugs. We aimed to review existing international orphan drug frameworks to inform policy formulation in China. Methods Pharmaceutical legislation, regulation, or policies related to the access and regulation of orphan drugs were examined from 194 WHO member countries and six regions. Relevant policies were identified through an internet search for governmental policy documents, email contacts to national pharmacovigilance centres participating in the WHO Programme for International Drug Monitoring, and a systematic literature search from academic publication databases. English publications were searched from PubMed, MEDLINE, Embase, Web of Science, and the Cochrane Library, and the search was updated to July 31, 2019. Findings 171 drug regulation documents from 156 countries or regions and 77 full-text academic publications were retrieved and read in full. 89 (44·5%) of 200 countries or regions had documentation on orphan drug policy. 34 subthemes from content analysis were categorised into six policy themes: orphan drug designation, marketing authorisation, safety and efficacy requirements, price regulation, incentives that encourage market access, and incentives that encourage research and development. In the past 5 years, surges in the establishment of orphan drug policy were found in non-high income countries (ie, lower-middle-income countries, upper-middle-income countries, and low-income countries). Interpretation Globally, patient access to orphan drugs has been boosted by government regulatory efforts and incentives. In China, priority review and tax reduction on orphan drug regulation are being initiated, along with the establishment of a national registry system for rare diseases, which are expected to positively effect patient access to orphan drugs. However, the current drug regulatory and insurance scheme in China still needs substantial improvement to achieve the accessibility and affordability of orphan drugs across the nation. A need for solid nation-wide epidemiological data on rare diseases, orphan drug designation, and systematic policy support is timely. Funding None.