Championing a future of hope in rare disease: UCB’s Aspire4Rare vision

As we reflect on the discussion and debate at the recent 12th European Conference on Rare Disease and Orphan Products (ECRD), it is clear that challenges remain for the 300 million people living with rare diseases worldwide. Often overlooked and under-represented, there is a consensus among the rare disease community that we need to strengthen and futureproof our health systems. To help catalyze this reform, UCB has launched the Aspire4Rare report.

Born out of UCB's commitment to the rare disease community and a recognition of the current progress and challenges in rare disease policy, Aspire4Rare engages a multi-disciplinary group of experts in rare diseases from policy, health, research, and patient advocacy backgrounds across Europe and the U.S. Together, we strive to develop holistic and sustainable systems for people living with rare diseases and advocate for tangible measurement of performance. The Aspire4Rare report is a tool built around a new global framework designed to assess and measure the effectiveness of rare disease policies – are they improving the time to diagnosis, is care improving, are new treatments becoming available? It is a statement of our intent, and the essence of the framework is to provide tangible outcomes, measures, and good practice examples to guide local health systems in actioning rare disease policies effectively.

Ensuring rare disease remains at the forefront of healthcare policy
Why did UCB commission this report? The answer lies in our mission to ensure that people living with rare diseases have equitable access to health systems. As a newer member of the rare community, we recognized the significant progress in rare disease research, healthcare, and policy that has been made in the last few decades. To catalyze progress, we saw an opportunity to bring together the great work using a common framework that can be adapted to build on the existing frameworks, facilitate knowledge transfer, and promote learning for the future.

Rare diseases affect millions worldwide, yet their fragmentation makes it challenging to address them comprehensively within health policies. The report recognizes the current challenges in accessing appropriate care, the uncertainty that comes with a diagnostic odyssey, the sense of isolation, and decreased quality of life.

Using the World Health Organization’s Health Systems Framework as a starting point, the Aspire4Rare Framework is intended as a basis for conceptualizing an approach to accelerate systems-level change to improve outcomes. It is effectively a cornerstone for policymakers, patient organizations, and others, offering a basis for discussion and implementation of rare disease strategies at local and national levels. We draw significant insights from past and existing successful initiatives, such as the International Rare Diseases Research Consortium, Rare2030, and Orphanet/Orphacodes, which have outlined aspirational policy goals and recommendations. Furthermore, the leadership and advocacy efforts of organisations such as EURORDIS and Rare Disease International have been instrumental in shaping policy and enhancing the visibility of rare diseases on the global stage. Aspire4Rare aims to extend these efforts, placing a strong emphasis on tangible, practical actions. 

While UCB recognizes four key priority areas for policy practitioners – including early diagnosis, access to treatments, collection and use of data, and flexible regulatory pathways – it is crucial to assess the performance of health systems using a consistent framework. This approach provides a structured way to address complex problems and can be utilized for discussions with implementation partners, policy learning, scenario planning, and operationalizing rare disease strategies.

Building the momentum for an EU Action Plan
Aspire4Rare aligns with the growing demand for an updated EU Action Plan, ensuring Europe's continued leadership in rare disease research, development, and care. With the last strategy dating back over 14 years, a new framework will facilitate coordination among member states, amplify existing National Action Plans, and drive improvements in the lives of millions affected by rare conditions. Recognizing both progress and persistent gaps in care provision, an EU action plan for rare diseases becomes not just a policy challenge, but a moral imperative to transform lives and unlock opportunities for medical and societal breakthroughs.

Aspire4Rare: an enduring call to action for the rare disease community 
As we reflect on the progress made at ECRD 2024, to translate the current political momentum into comprehensive actions for the EU’s next cohort of policymakers and leaders, we hope that Aspire4Rare is an enduring call to action for the rare disease community.  The initiative is a testament to what can be achieved when industry leaders, policymakers, healthcare professionals, and patient organizations come together with a common goal: to ensure that rare diseases remain a priority, not only in policy discussions, but in tangible actions that improve the lives of those affected.

The Aspire4Rare approach goes beyond simply outlining the desired outcomes for rare disease policy. It focuses on identifying the practical steps necessary to achieve those outcomes. In this sense, Aspire4Rare is not just a report; it serves as a practical guide for building towards the future. It envisions a future where rare diseases take center stage in healthcare policies and drive innovation. To see how your health systems can benefit from the Aspire4Rare framework, you will find the report here.