National plans for rare diseases in the European Union and their implementation through e-health information strategies

Abstract Background: Rare diseases present complex public health challenges across the European Union (EU) due to fragmented scientific knowledge and prolonged diagnostic pathways. Supranational recommendations emphasize the integration of strategic national frameworks backed by digital innovations. Objective: This study conducts a comparative evaluation of centralized and decentralized information strategies and e-health implementation models in pioneering EU member states (France, the Netherlands, Germany) against the contemporary healthcare baseline of Bulgaria. Methods: A mixed-methods research architecture was deployed, utilizing a qualitative Comparative Policy Analysis of macro-level strategic indicators alongside an empirical cross-sectional quantitative study. Primary data were extracted via 50 standardized in-depth interviews among a representative sample of rare disease patients at a tertiary medical hub in northeastern Bulgaria. Temporal contextualization was maintained via expert content analyses spanning the 2022–2025 period. Results: Centralized frameworks (France) and highly interoperable net-based systems (the Netherlands) successfully reduce clinical info-asymmetries through operational registries and dedicated helpline infrastructures. Conversely, empirical Bulgarian data expose severe structural deficits: 61.3% of rare disease patients are completely unfamiliar with their Electronic Health Record, and over 83% remain unaware of e-health tools. However, a profound 90% digital readiness rate exists within the patient community. Conclusions: Advancing the technological capacity of healthcare ecosystems fails to translate into patient benefit without target-funded digital navigation tools. Bulgaria requires an immediate structural upgrade, establishing unified portal architectures to transform passive data networks into functional tools for patient empowerment.