Bridging Innovation and Access in Rare Diseases

When we look beyond the science, people living with rare diseases are not only statistics; they are children, parents, and families facing daily struggles. They are also my motivation—and the reason I spoke on a panel at this year’s World Orphan Drug Congress Europe about the complex and evolving landscape of health technology assessment (HTA) and access to orphan medicinal products (OMPs) across Europe. As I reflect on the discussions, I am struck by how rapidly innovation in rare diseases is advancing; yet, it’s only truly impactful if it reaches the patients who need it—especially those enduring long, uncertain waits for treatments.

Over the past decade, the number of OMPs approved in Europe has nearly doubled (1), providing new hope for many conditions that once had no options. Clinical trials focused on rare diseases are also on the rise, with a nearly twofold increase in annual trial initiations since 2014, underscoring the commitment to address unmet needs in the rare disease community.

Yet despite these advancements, timely access remains a challenge. While European regulatory bodies have accelerated pathways for orphan drug designation, access timelines still vary due to regional differences in HTA assessments and reimbursement processes. Recent data highlight that only 35% of approved orphan drugs are made available to patients across Europe, largely due to challenges in securing reimbursement, which is essential for ensuring access and funding future innovation (2). And, on average, it takes over 500 days for these medicines to become available following approval (2)—a stark contrast that underscores the gap between regulatory approval and patient access.

These delays impact not only individual patients but entire families. For some, a delay means the difference between a manageable condition and one that spirals into further complications. Parents often face years of caregiving, where a child’s pain or discomfort permeates the lives of everyone around them. This urgency highlights why regulatory approvals alone are not enough; true success lies in ensuring these therapies reach the patients they’re designed for without delay.

Rare disease therapies also face unique evidence challenges. With smaller patient populations and fewer established comparisons, HTA evaluations often struggle to assess these therapies within traditional frameworks. For example, reducing a symptom like unrelenting itching might seem minor on paper, but for patients and families, it could transform daily life. HTA bodies, however, frequently rely on direct comparators and large-scale data, making it difficult for rare disease therapies to meet these criteria.

To address these challenges, Ipsen is working closely with payers, policymakers, patient organizations and other industry partners to create frameworks that account for the unique characteristics of rare disease therapies. Some European countries are beginning to adapt by implementing more flexible evidence requirements, greater expert input, and willingness-to-pay adjustments. By engaging with HTA bodies early in the process, we can work together to incorporate real-world impacts, such as quality-of-life improvements and other meaningful patient outcomes. This collaborative approach supports a more comprehensive assessment of the value these therapies bring beyond clinical metrics alone.

True change will require collaboration. Ipsen is one of many companies advocating for rare diseases, and we are building partnerships across patient groups, policymakers, and clinical communities to craft solutions that reflect patients’ real needs. While individual therapies are vital, we must also work toward a more consistent infrastructure that supports timely diagnosis, effective treatment, and robust access pathways for rare disease patients.

At the congress, I saw promising models from countries that are beginning to integrate alternative HTA processes and flexible access pathways. These examples bring hope for a future where all patients may benefit equally, regardless of the rarity of their condition. Beyond individual therapies, it’s about creating a healthcare ecosystem that supports people living with rare diseases with compassion and consistency.

I would like to extend my gratitude to my fellow panelists—Nick Meade (Policy Director, Genetic Alliance UK), David Kolá? (Executive Director, AIFP, Czech Republic), and Elena Nicod (Director, Dolon Ltd)—for their invaluable insights during our discussion and for the important work they do on behalf of the rare disease patient community every day.

For me, working in rare disease access is more than a professional mission; it’s personal. I’ve heard firsthand the profound impact that a single treatment can have on a child who finally sleeps through the night or a parent who finds hope for their child’s future. Rare disease families face unimaginable challenges, yet their resilience is inspiring. Each patient’s story reminds me why this work is so urgent.

In rare diseases, innovation is powerful, but it is only half of the journey. True progress means building systems that make therapies accessible and affordable, enabling patients to live fuller lives. Together, with partners and patient advocates, we are committed to a future where the needs of those living with rare diseases are met swiftly and fully—so no patient is left waiting.

1 Bouwman, L et al. Trends in orphan medicinal products approvals in the European Union between 2010–2022. Orphanet J Rare Dis. 19, 91 (2024).? https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03095-z

2 Newton, M et al. EFPIA Patients W.A.I.T. Indicator Survey, 2023, (published June 2024). https://www.efpia.eu/media/vtapbere/efpia-patient-wait-indicator-2024.pdf