Rare Disease Day: A Day Defined by Numbers and Community
BLOG POST
by the co-chairs of OMP-ATMP working group Pedro Franco, Senior Director, Head of Europe Global Regulatory and Scientific Policy at Merck and Jan Swiderski, Senior Director, Head of Global Public Affairs & Advocacy at Ipsen and Beatrice Rocco, Healthcare Policy Coordinator
Rare Disease Day is an important reminder of how many people live with rare diseases and what challenges they face. With 300 million persons living with a rare disease globally and up to 36 million in Europe (1,2), the entire rare disease community is continuing to work to advance science and deliver novel therapies. In the past 20 years, scientific and technological progress in biotechnology, as well as European policies, have enabled an increasing number of life-changing therapies to reach patients. The path to developing treatments for all rare diseases is filled with challenges, but every step forward brings us closer to our shared objectives.
Rare Disease Day should serve as a call to action for Europe.
EuropaBio is committed to continuing its collaboration with policymakers, patients’ representatives, and regulators to strengthening and promoting biotechnologies in Europe ensuring that the EU can be a leader in innovative therapies.
Challenges in Rare Diseases
Each rare disease is unique and clinical challenges are unique as well. Since they affect a relatively small number of people, one of the hurdles is the recruitment process of patients for clinical trials. During the development phase, the lack of scientific knowledge of these diseases creates difficulties in conducting research and development (R&D) whereas the low patient population creates challenges in finding/recruiting patients for clinical trials. This inevitably translate into fewer research possibilities, jeopardising the development of treatments. In some countries, the situation is even more complex due to the lack of specialised centers capable of handling such complex treatments.
Additionally, the EU regulatory framework is fragmented, exacerbating these challenges. Each of the 27 EU Member States has specific requirements for clinical trials, making it difficult for researchers and companies, especially the smaller ones, to work through this complex legislative and bureaucratic system. The lack of a more comprehensive approach and the intricate regulatory environment delays innovation and access to treatments. The adoption of the first OMP Regulation has shown what the EU can do when it incentivises innovation and fosters collaboration. This success should serve as a blueprint for the future.
Unleashing biotech and life sciences innovation to improve lives
EU legislations and initiatives, such as the revision of the General Pharmaceutical Legislation (GPL), the EU Biotech Act, the Innovation Act, and many others, represent an opportunity for Europe to be more competitive in supporting research for rare diseases by addressing fragmentation and delivering the full potential of innovation to patients.
The way these files are developed is crucial to untangling the already complex EU regulatory framework and incentivising investments.
For instance, the European Commission's proposal on the GPL to reduce the Orphan Market Exclusivity period (OME) will particularly harm smaller biotech companies, which also represent the majority of orphan products developers. EuropaBio continues to support extending the OME and preserving orphan designation criteria, as this would incentivise companies to invest more in R&D for rare diseases, where more specific research and new technologies are still needed. Moreover, EuropaBio advocates for the removal of the 7-year validity period for orphan drug designation proposed by the Commission, as this could remove time constraints in medicine development affecting future investments in orphan projects. (3)
Rare Disease Moonshot: collaborating to go faster and further
95% of identified rare diseases still do not have an approved therapy and the search for new treatments is thwarted by enormous scientific challenges. At the current pace, it would take over 100 years to develop treatments for all rare conditions. Unlocking science will require ecosystem-wide collaboration. Public-private partnerships could help pool resources to solve problems more quickly, reduce fragmentation and scale up existing initiatives to make a real difference for patients.
The Rare Disease Moonshot brings together nine organisations from across the rare disease community to unlock barriers to collaboration and accelerate clinical development of therapies. Focusing on leveraging the potential of public-private partnerships, the Rare Disease Moonshot is building bridges across the ecosystem and issuing recommendations to:
- ENHANCE the translational research ecosystem to fill the research pipelines with new therapeutic options.
- OPTIMISE clinical trials and regulatory pathways for very small patient populations to de-risk and optimise development.
- DEVELOP infrastructure to accelerate the journey to diagnosis and treatment.
Europe should work towards faster financing to scale up innovation for rare disease products, a simpler EU with a harmonised and predictable legislative environment for biotechnology and biomanufacturing, and a stronger together approach across all Member States, supported by a skilled workforce and specialised centers. This will ensure that the numbers reflecting people living with a rare disease translate into real solutions for them.
(2)https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en
