Imagining More for Rare Diseases: Reflections on the Path Ahead

An article by Josep Catlla, Executive Vice President, Chief Corporate Affairs Officer

“Each year, Rare Disease Day is a moment of profound reflection for me. It’s an opportunity to celebrate the resilience of people living with rare diseases, to listen to their stories, and to reaffirm my personal commitment—and Ipsen’s collective commitment—to standing alongside the rare disease community.

This year’s Rare Disease Day Theme ‘More than you Can Imagine’ makes me thing about the complex challenges those living with or caring for a loved one with a rare disease often have to navigate. For many, the journey starts with a delayed diagnosis that can take years to confirm, alongside limited treatment options and disparities in access to care. These obstacles are not confined to one condition or community—they are the lived reality for millions around the world, whether they’re managing a rare liver disease, rare bone condition, or rare cancers.

I recently had the privilege of listening to Francesca, the mother of Eva Luna, a child living with Primary Familial Intrahepatic Cholestasis (PFIC), a rare cholestatic liver disease. Her strength and perseverance in the face of daily struggles remind me why we do what we do. It’s stories like Francesca’s—and those of Roberta, Stephanie, Gill, Nadine, and so many others that I have heard in recent weeks—that inspire us every day. Their courage to share their experiences and advocate for change motivates us to continue pushing the boundaries of what’s possible.

At Ipsen, we believe in the power of listening. Patients and their families are the true experts in their conditions, and their insights are invaluable. Their lived experiences have shaped our understanding of rare diseases and, in turn, guided our priorities. Through our ongoing collaboration with the primary biliary cholangitis (PBC) community, we co-created patient-reported outcome measures to better capture the impact of symptoms like debilitating fatigue and itching—elements of this rare liver disease that are too often overlooked in traditional clinical assessments. By learning directly from the rare disease community, we are reminded that empathy and collaboration are as vital as innovation in addressing unmet medical needs.

Supporting the rare disease community requires more than goodwill—it calls for meaningful and systemic improvements. Challenges such as policy gaps, delays in accessing therapies, and disparities in treatment options remain areas where progress is needed. In recent times, we are unfortunately seeing some difficult-to-understand delays and barriers in bringing those new medicines to patients in some countries around the world. When the most respected international regulators (FDA and EMA) have validated the safety and efficacy of a new innovative medicine, it is unfortunate that some find additional arguments to further delay patients accessing to new medicines. Unfortunately a rare disease is a rare space for new innovation and it takes a lot of commitment, resources and determination for researchers like those at Ipsen who are fully committed to go the extra mile to bring new therapies in areas of such unmet need.

Ipsen’s commitment to innovation in rare diseases extends beyond developing treatments; it’s about creating a more supportive environment for rare disease innovation and care. Together, as patients, advocates, policymakers, and industry leaders, we must work collectively to ensure that the needs of the rare disease community are prioritized. This isn’t just a challenge—it’s an opportunity to build a future that meets and exceeds their expectations.

On the eve of this year’s Rare Disease Day, my wish for the rare disease community is one of hope, progress, and solidarity. A future where individuals like Luna, Roberta, Stephanie, Gill, and Nadine, and their families receive the care, understanding, and dignity they deserve. A future where barriers are broken down, and the potential for life-changing innovation is fully realised.

“More Than You Can Imagine,” captures the essence of what we’re striving for.

To all those living with a rare disease and their loved ones: thank you for inspiring us to push boundaries every day. And to my colleagues, peers, and partners, let’s come together to reimagine what’s possible—together. Our commitment to rare disease is… Rare.”

#RareDiseaseDay2025 #MoreThanYouCanImagine #Ipsen