Medicine Development and Access for Rare Diseases: Can We Do Better?

Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines. Unmet need and great promise of new medicines, combined with high prices and uncertain effectiveness, highlight the shortcomings of the system, particularly evident for highly specialized treatment options, such as advanced therapy medicinal products and RNA-based treatments. While all stakeholders in this field must take responsibility, academic researchers and clinicians have a vital role which must be strengthened to improve access to and affordability of medicines. Regarding academia-driven orphan medicine development, academic contributions are predominantly concentrated in the early research phases, often lacking continuity throughout the full development pipeline. There is limited expertise in regulatory affairs and market access, and little involvement in medicine pricing or licensing negotiations. Recommendations include sustained academic engagement across all development stages, integration of regulatory and market access training into educational programs, and the implementation of socially responsible frameworks. Strategies promoting the rational use of orphan medicines should be embedded across the entire product lifecycle. Industry-driven development typically interacts primarily with regulatory agencies and payers, with academia playing a reactive and, at times, conflicted role. Independent academic-industry interaction is recommended, with early involvement in clinical trial design. Additionally, academia should proactively contribute to the evaluation of new therapies, development of controlled access models, and exploration of sustainable pricing frameworks. Establishing independent, multi-purpose disease registries would enhance post-authorization monitoring and evidence generation.