IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions

In 2017, the International Rare Diseases Research Consortium (IRDiRC) set out ambitious goals, one of which specifically aimed to stimulate the development and approval of 1000 new therapies for rare diseases by 2027. This goal was part of IRDiRC’s concerted efforts to foster research and provide better diagnostics and care options for the estimated 400 million patients suffering from the more than 6000 rare diseases (RD) worldwide. Lack of therapeutic options for rare disease patients is an urgent issue. Treatments are estimated to be available for less than 6% of RD conditions, and fewer than 50 new therapies per year are approved by regulatory agencies worldwide, leaving a major discrepancy between patient needs and therapeutic solutions. This paper describes the recent key steps the IRDiRC Therapies Scientific Committee (TSC) has taken to support the future approval of 1000 new therapies, namely Step 1 (conducting a gap analysis of the rare diseases drug development landscape) and Step 2 (developing strategic themes to advance IRDiRC Goal 2 and act upon them). The IRDiRC TSC created a multi-stakeholder group to run a gap analysis of the RD drug development field. The analysis identified four main priority needs: (1) the definition of a new master plan for RD medicines suitable for all developers (large and small pharmaceutical companies, academics, and not-for-profit organizations) incorporating stakeholders’ perspectives and best practices in the field to increase efficiency in the development and registration of innovative drugs and generate more value for patients and the healthcare system; (2) the elicitation of a research framework and business model for repurposing of existing drugs for RD indications to enact a quantum enlargement of the existing Page 2 of Hivert et al. Rare Dis Orphan Drugs J 2021;1:3 https://dx.doi.org/10.20517/rdodj.2021.02 8 therapeutic armamentarium; (3) the definition of standards and practices for data collection in healthcare practice and their implementation in drug development to provide real-world evidence; and (4) the re-focusing of the current international RD research agenda pushing for concentrated research efforts and funding in support of the development of future treatments. In addition to identifying where efforts should be put, the TSC has concretely contributed to advance the IRDiRC goal by creating tools (e.g., the Orphan Drug Development Guidebook) and recommendations and making them available to the whole RD community. However, much remains to be done, and the TSC has refined its approach to incorporate progress made and reflect on new challenges.