A decade of implementing rare disease policy: insights from a national framework

Introduction : Bulgaria stands out in Eastern Europe for its early and structured engagement in rare disease policymaking through the National Program for Rare Diseases (2009–2013) and Ordinance No. 16/2014, which established the legal framework for rare disease registration and management. Aim : To present a retrospective policy implementation analysis of Bulgaria’s rare disease framework, examining how the provisions introduced by Ordinance No. 16/2014 have been translated into measurable institutional outputs between July 2014 and March 2025. Materials and methods : A retrospective policy implementation analysis was conducted using aggregated administrative and regulatory data derived from publicly accessible sources, official documents, and materials obtained through formal requests under the Bulgarian Law on Access to Public Information. Results : The national List of Rare Diseases, adopted in 2015, initially included 116 conditions. Between 2015 and 2025, 149 additional conditions were added following expert review. Median processing times were 112 days from initial review to Commission recommendation and 126 days from recommendation to ministerial approval. During the same period, 34 expert centers were designated, with a median of 139 days from submission to certification. By March 2025, the National Registry contained data on 1685 patients across 76 rare diseases; however, reporting remained incomplete, with only 35.3% of expert centers contributing data. Conclusions : The Bulgarian model demonstrates that a permanent regulatory framework can improve coordination, visibility, and standardization of rare disease care. Nevertheless, incomplete registry reporting, uneven stakeholder participation, and limited integration within European Reference Networks remain important challenges.