OBJECTIVES: 300 million people living with rare diseases worldwide are disproportionately deprived of in-time diagnosis and treatment when compared to other patients. Policies that optimise development, licensing, pricing, and reimbursement of orphan drugs are instrumental in addressing this neglected but significant burden. An overview of global orphan drug policies is proposed to inform policy development.

METHODS: Pharmaceutical legislation and policies related to access and regulation of orphan drugs were examined from 194 World Health Organisation member countries and 6 areas. Orphan drug policies were identified through internet search, emails to national pharmacovigilance centres, and systematic academic literature search. Texts from selected publications were extracted for content analysis.

RESULTS: 171 drug regulation documents and 77 academic publications from 162 countries/areas were included. 92 of 200 countries/areas (46·0%) had documentation on orphan drug policy. 34 sub-themes from content analysis were categorised into six policy themes, namely, orphan drug designation, marketing authorisation, safety and efficacy requirements, price regulation, incentives that encourage market availability, and incentives that encourage research and development. Countries/areas with orphan drug policy were statistically wealthier (GNI per capita = $10875 vs. $3950, p<0·001). Country/area income was also positively correlated with the scope of the respective orphan drug policy (r_s=0.57, p<0.001).

CONCLUSIONS: Globally, number of countries with orphan drug policy is rapidly growing since 2013. However, there are disparities in orphan drug policy establishment by geographical distribution and income levels. Furthermore, identified policy gaps in “price regulation”, “incentives that encourage market availability”, and “incentives that encourage research and development” should be addressed to improve access to available and affordable orphan drugs.