A Dolon Institute campaign
Despite significant progress in rare disease innovation, substantial unmet need remains across Europe. Many people living with rare diseases still lack an approved treatment, face limitations with existing therapies or are unable to access treatments that are available. Sustaining the momentum of rare disease innovation will therefore require more than scientific advances alone.
In recognition of Rare Disease Day 2024, we produced an infographic that explores four critical elements to sustaining rare disease innovation in Europe. These elements are outlined below, building on published work by Prescient team members.
Great science is the essential starting point. With approximately 95% of known rare diseases still lacking an approved treatment, scientific understanding remains a fundamental barrier. Basic research and advances in disease knowledge are critical to expanding the number of rare diseases that are sufficiently understood and clinically viable for drug development.
Clear incentives are needed to translate scientific opportunity into investment. Rare disease development presents significant economic challenges, meaning companies must assess where limited resources can have the greatest impact. The infographic highlights how uncertainty around incentives and changes to intellectual property and orphan medicine protections could reduce investment and ultimately diminish future innovation.
Supportive P&R frameworks are equally important. Developing a medicine is only part of the challenge: patients cannot benefit if treatments are not reimbursed. Emerging innovations such as cell and gene therapies can be particularly challenging for traditional P&R systems because of their potentially curative, one-time nature, high upfront costs and uncertainty around long-term outcomes.
Finally, a strong community is essential to ensuring that patient needs remain at the centre of innovation. Greater collaboration between patients, clinicians, policymakers, industry and other stakeholders can help improve diagnosis and care while creating an environment better prepared for future treatments.