Two Decades of Progress and Remaining Challenges: Comparative Analysis of Rare Disease Policy Implementation in...

Rare diseases (RDs) pose significant challenges to public health, affecting millions of individuals across the world. Since the adoption of Regulation (EC) No. 141/2000, the European Union (EU) has provided a unified framework for national RD policies. This study provides an overview of RDs legislation over the past two decades (2000-2024), with a comparative analysis of the period 2012-2024 in three neighbouring EU Member States: Bulgaria, Romania, and Greece. The analysis focuses on legal frameworks, national strategies, centres of expertise (CEs), and disease registries.

All three countries have developed RD-related policy structures aligned with EU standards; however, important differences remain in their level of institutionalisation, coordination, and implementation. Bulgaria demonstrates a more formalised organisational framework through the early adoption of a dedicated National Rare Disease Programme (NRDP), an official RD list, and formal coordination mechanisms, alongside the expansion of CEs, disease registries, and neonatal screening. In contrast, Romania and Greece lack updated standalone NRDPs, with Romania integrating RD policies within broader national health strategies and Greece relying more on fragmented initiatives and broader healthcare reforms. While CEs, registries, and neonatal screening programmes are present across all three countries, differences persist in their organisation, national coordination, and degree of integration. Overall, the existence of policy frameworks and organisational structures does not necessarily indicate their effective implementation, integration, or equitable patient access.

RD policy frameworks in Bulgaria, Romania, and Greece have developed over the past two decades, reflecting progressive alignment with EU-level recommendations. However, implementation remains uneven, fragmented, and differently organised across the three countries. These findings suggest that legislative harmonisation alone is insufficient to ensure coordinated and effective RD policy implementation. Future research is needed to examine how these structures function in practice and whether they improve healthcare delivery, care coordination, and patient outcomes.