Introduction: The EU Orphan Regulation has successfully stimulated R&D of medicines for rare diseases, resulting in a substantial increase of orphan designations and authorized orphan medicinal products in the EU during last decade. Despite such advances, access to treatment across the 27 EU Member States is still highly variable.
Areas covered: We provide an overview of the current situation of patient access to orphan drugs in the EU. We discuss the EU policy landscape regarding joint assessment and pricing & reimbursement negotiations of medicinal products, price and sustainability of orphan drugs for health care systems, and the importance of Real-World Data and registry infrastructures for rare diseases. Additionally, we provide recommendations for areas of improvement throughout the lifecycle of orphan drugs, aiming to preserve a positive R&D climate for rare diseases in the EU and accelerate patient access.
Expert opinion: The EU needs to maintain a patient-centric pharmaceutical ecosystem that encourages long-term investments and rewards innovation in areas of high unmet medical need. Areas of potential improvement range from enhanced alignment of regulatory and HTA evidence requirements and use of specific value frameworks for the assessment of orphan drugs to the development of registry infrastructures and innovative performance-based pricing agreements.
Keywords: Orphan drugs; access; health technology assessment; orphan drug regulation; pricing and reimbursement.