Breaking Barriers to Rare Disease Innovation: Reflections from the World EPA Congress 

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An article by Philippe Ghyssels, Vice President Corporate and Global Public Affairs

For individuals living with a rare disease, every day without treatment is a day too long. At the World Evidence, Pricing and Access (WEPA) congress in Amsterdam, I participated in a panel discussion on long-term access to rare disease innovation. The conversation reminded me that behind every policy, negotiation, and delay are real people whose lives depend on timely access to treatment. 

Innovation in rare diseases has come a long way, but as we continue to make progress, we need to ensure that access keeps pace with innovation. A new treatment can only change lives if it consistently reaches the people who need it, when they need it. 

And yet, timely access isn’t always straightforward—rare disease treatments don’t fit neatly into the traditional pharmaceutical development and access model. The orphan drug business model is unique—it requires a thoughtful balance between fostering innovation and making therapies available equitably and without delay. While many advances have been made, there are still areas where we can work together to improve: 

• More orphan drugs are being approved in the U.S. than in Europe. This highlights an opportunity to strengthen regulatory and market access pathways in the EU, helping to prevent unnecessary delays in treatment availability. 

• Even after EMA approval, access timelines vary widely across Europe. Differences in national pricing and reimbursement (P&R) processes mean some people wait significantly longer than others for the same treatment. 

• Rare disease access frameworks are evolving, but challenges remain. Many countries are navigating questions around the role of surrogate endpoints, the use of low-cost comparators, and pricing thresholds—which can sometimes slow down access instead of accelerating it. 

Rather than seeing these as barriers, we should view them as opportunities to refine and optimize access pathways—so that innovation translates into impact, faster and more consistently. 

How can we move forward? Ensuring that rare disease treatments reach people in a sustainable, long-term way requires collaboration and fresh thinking. For me, key areas of focus include: 

• Strengthening incentives for innovation. Policies supporting intellectual property protections, tax incentives, and scientific guidance will drive continued investment in rare disease research and development. 

• Fostering early, multi-stakeholder collaboration. When people living with rare diseases, payers, regulators, researchers, and industry engage early, we can create a more predictable and effective pathway to access. 

• Exploring new funding models. The traditional P&R process doesn’t always account for the full value of rare disease treatments. We need to continue exploring flexible, innovative funding solutions. 

• Embracing flexibility in decision-making. Greater acceptance of surrogate endpoints, real-world evidence, and adaptive approvals can help accelerate access while maintaining high safety and efficacy standards. 

• Aligning access frameworks with the realities of rare diseases. More inclusive willingness-to-pay (WTP) thresholds—like NICE’s Highly Specialized Technologies (HST) model—recognize the long-term impact of these therapies and should be considered more broadly. 

One of my biggest takeaways from the World EPA Congress is that there is a strong, shared commitment to improving rare disease access. Policymakers, healthcare professionals, regulators, patient groups, and industry are all working toward the same goal—making sure that people with rare diseases can benefit from innovation in a sustainable and timely way. 

Rather than focusing on what isn’t working, we should channel our efforts into what we can build together. By aligning incentives, fostering collaboration, and keeping people at the center of decision-making, we can shape a future where rare disease access is no longer a challenge but a given. 

The solutions are within reach. Now is the time to make them a reality.