Addressing global regulatory challenges in rare disease drug development
Enrico Costa, V. Ajith, Amina Khaldi, Antonella Isgrò, Kerry J Lee, Riccardo Luigetti, Anna M.G. Pasmooij, Violeta Stoyanova‐Beninska, Eveline Trachsel, Julienne Vaillancourt, Steffen Thirstrup
Abstract
Despite progress in rare disease treatment, many conditions still lack therapeutic options. In addition to specific legislation promoting research and investment, regulators have supported early dialogs with stakeholders, optimized processes and expedited the approval of medicines in areas with unmet medical needs, such as rare diseases. However, several challenges persist, particularly in generating robust evidence. The introduced flexibility must be balanced with uncertainty management. Our analysis identifies several priorities: establishing a common global regulatory language; recognizing and validating surrogate endpoints; involving patients in defining meaningful outcomes; and leveraging digital health technologies and decentralized clinical trials. These tools offer opportunities to improve evidence generation and access, supporting more efficient and inclusive development processes where traditional approaches can be limited or unfeasible.