Tackling rare diseases at European level: why do we need a harmonized framework?

Area of Science:

• Public Health
• Health Policy
• Rare Diseases

Background:

• European Commission has advanced a proactive rare disease (RD) approach since 1999.
• Significant disparities exist in healthcare systems across EU Member States (MS), hindering comprehensive RD care.
• Current healthcare systems are often unprepared for the unique challenges faced by individuals with rare diseases.

Purpose of the Study:

• To highlight the need for a comprehensive, evidence-based strategy for rare diseases (RD) in EU Member States (MS).
• To propose the development of recommendations for national rare disease plan development.
• To support EU MS in creating strategic plans for improved rare disease management.

Main Methods:

• Analysis of existing European Commission initiatives and Member State (MS) approaches to rare diseases (RD).
• Examination of national strategic plans for rare diseases in France, Bulgaria, and Spain.
• Synthesis of experiences and expertise from EU MS to inform recommendation development.

Main Results:

• Only France has a national strategic plan for rare diseases; Bulgaria and Spain are developing theirs.
• EU Member States (MS) possess significant expertise in rare disease (RD) management.
• A need exists for standardized recommendations to guide national rare disease plan development.

Conclusions:

• Strategic planning is essential for a comprehensive approach to rare diseases (RD).
• Developing recommendations for national rare disease plans will support harmonization across EU Member States (MS).
• A European Commission Communication on rare diseases will promote shared policy guidelines and a unified European strategy.