We posed four questions to key note speaker Yann Le Cam, Chief Executive Officer of EURORDIS – Rare Diseases Europe, a non-profit alliance of over 1000 rare disease patient organizations from 74 countries that work together to improve the lives of over 300 million people living with a rare disease globally.
The Nordic Rare Disease Summit 2023 in Stockholm builds on the success of the 2021 Summit in Copenhagen. It is as much an opportunity to look at the progress made as the points of progress upon which to focus. Scientific progress in rare diseases is exponential, the pipeline of potentially transformative therapies is growing, and digitalization is transforming clinical research and healthcare. These opportunities come with new challenges for national healthcare systems and all stakeholders.
All stakeholders and decision-makers need to recognize that a person with a rare disease needs a 360°, holistic approach, integrated medical and social care, with a lifelong perspective. We usually don't live with one rare disease but a syndrome of different clinical manifestations.
People living with a rare disease need to be recognized as the captains of their lives and their journeys as patients, with control over their data, mobility, and continuity. They need to be encouraged to engage and be adequately supported in their engagement.
At the policy level, patient representation or people living with a condition need to be recognized with a legal basis for their engagement in all policy-making processes and participation in the management of registries, clinical trials, and healthcare service provision. As equal partners. In a spirit of partnership with rights and duties.
The Nordic Rare Disease Summit 2023 in Stockholm is the main event on rare diseases under the Swedish EU Presidency. The Summit is the first opportunity to debate the Commission’s proposal on the pharma regulations immediately after its official publication – a chance to discuss with all stakeholders.
As an ideal result of the Summit, I would like to see further discussion on the proposed new regulatory framework for rare diseases, orphan and pediatric products, and to discuss the ecosystem around it, for research and for access.
Another dream outcome would be a strong convergence of strategies across the Nordic countries, within an integrated approach at European level on clinical research and provision of healthcare, promoting earlier diagnosis, best care, and access to adequate treatments. Ultimately, this is a momentum for more regional and European collaboration to ensure timely and sustainable access to innovative treatments.
Pernille Weiss, you’re an avid advocate for advancing R&D in Europe.
Innovation needs a stable legal framework and flexible, agile (and sufficient) financial resources from public and private funds. This is especially important for rare diseases where the market potential manifests differently from other diseases. The cross-border aspect of innovation in rare diseases must be better met to bring and keep R&D in Europe at the global forefront.
I hope NRDS23 – besides boosting crucial awareness of rare diseases among my colleagues at the EU Parliament and providing ideas on what the EU must do since no member state is large enough to do it by themselves – will deliver a batch of concrete recommendations and ideas to answer the how [the problems are solved]. Patient empowerment, early diagnosis, and improving access to innovation do not happen without tools and incentives.
Alexander Natz, you help pharmaceutical companies to drive innovation.
There is no single solution or policy option that will solve the 95% (of rare diseases without an approved therapy) gap. This requires a carefully calibrated ecosystem that looks at both the full patient experience and the entire product development life cycle.
Overcoming the challenges faced by people living with rare diseases will require action at the local, national, and EU levels by a range of stakeholders. Different solutions and policy options are required that work in unison without contradicting themselves. A shared vision on an EU Rare Disease Action Plan is one way to bring together distinct policy options together into a single mission.
Overall, the EU needs to ensure that the rare disease ecosystem continues to develop therapies for everyone to be able to benefit from innovation, without overlooking the needs of a diverse patient population across the 27 member states.
We are currently looking at one of the most significant revisions of the orphan medicinal products legislation in two decades, which will give a strong footprint to the rare disease ecosystem over the next 15 to 20 years. However, in Brussels, often by necessity, the important work and initiatives at the national and regional levels that also drive innovation and, importantly, access are not sufficiently discussed.
I am eager to hear how the Nordic countries can support each other’s strategies and complement what is happening at the EU level. This is an excellent opportunity to spotlight the activities taking place in an extraordinarily innovative region of Europe and stress the importance of national activities, hopefully illustrating some best practices that can be shared.
All in all, NRDS 2023 should provide great building blocks for how other regions of the EU should conduct themselves in order to improve the rare disease ecosystem across the continent.