On October 13, 2022, EFNA participated in Alexion’s annual Rare Conversations conference. This year’s theme, ‘Rare Disease Policies: Pioneering the way towards a resilient ecosystem’ brought together the input from previous episodes (international and national level) and the expertise of a broad range of representatives of the rare disease community, to build recommendations on the way forward for the rare disease ecosystem, especially in preparation of the upcoming revision of the EU Regulation on orphan medicinal products (OMP Regulation). The event reflected on: ‘How to build a resilient rare disease ecosystem for the next decade?’ , and presented Alexion’s 30-year anniversary campaign, under the motto ’Pioneering Complement Science Then and Now’.

The opening session ‘A sustainable and resilient rare disease ecosystem: the perspective of the Expert Group on Orphan Drug Incentives’ set the stage for a high-level discussion on how to create a sustainable and resilient healthcare environment for rare diseases. This began with a presentation of the work of the OD Expert Group, a multi-stakeholder alliance that has developed a set of proposals for the creation of a resilient and innovative rare disease ecosystem, following a life-cycle approach. These proposals are timely with the upcoming revision of the OMP Regulation.This was followed by a high level exchanged with Yann Le Cam, Chief Executive Officer, EURORDIS, and, Dr Andrzej Jan Rys, Director Health systems, medical products and innovation, DG SANTE. An overarching discussion followed with Vittoria Carraro, Government Affairs Director, EUCOPE, Prof Michael Schlander, Professor of Health Economics, University of Heidelberg / Head of Division, DFKZ,  MEP Tomislav Sokol, MEP, European Parliament, Dr Martine Zimmermann, SVP, Global Head of Regulatory & Quality Affairs, Alexion focusing on the legislative framework and on the revision of the OMP Regulation, where to identify the right solutions to strengthen the rare disease ecosystem in a sustainable way, including key issues like access.

The Breakout Session ‘Partnerships for future: a cooperative approach to address key outstanding challenges’ presented an opportunity to better understand and address key outstanding challenges that people living with a rare disease have to face constantly. Such challenges concern different areas of rare diseases, from screening and diagnosis to R&D, to regulatory pathways and value assessment. Several existing partnerships have already shown their potential in addressing current needs across healthcare systems, for instance the EJP RD, IRDiRC, IHI or Avicenna Alliance. Many others are working in a multi-stakeholder approach to develop innovative ideas, such as Screen4Care, RWE4Decisions or Together4RD. During this session, Experts involved in rare disease partnerships Arjon van Hengel, Deputy Head of Unit “Health Innovations & Ecosystems”, DG RTD, European Commission, Dr David Pearce, Chair, IRDiRC, Dimitrios Athanasiou, Board member, European Patients Forum (EPF) & Member, EMA Paediatric Committee (PDCO), Magda Chlebus, Executive Director Science Policy & Regulatory Affairs, EFPIA, Maciej Gajewski, Executive Director & Head of International Government Affairs and Policy, Alexion, Nathalie Seigneuret, Senior Scientific Project Manager, IHI, Prof Rima Nabbout, Professor of Paediatric Neurology, Paris Descartes University, and Dr Daria Julkowska, Scientific Coordinator, EJP RD shared their experiences and discussed ideas on which should be the partnerships of the future, and how they should be developed, in order to tackle the main challenges in rare diseases and trigger new opportunities for the entire community.

The Closing Session ‘The rocky road towards innovation: pioneering the future of orphan drugs’ highlighted some optimism with the rare disease innovation landscape evolving quite remarkably over the past two decades. With approximatively 200 orphan drug products available in Europe, many rare conditions can be now treated. However, rarely the first treatment brought to the market offers the ultimate solution. Even most remarkable treatments come with some shortcomings and require continued improvement. Curative therapies are almost never available and remain a dream of every rare disease stakeholder. During this session experts representing patient, medical, scientific and policy community MEP Stelios Kympouropoulos, MEP, European Parliament, Dr Anita Hill, VP, Global Medical Affairs Lead Haematology & Nephrology, Consultant Clinical Development, Alexion, Dr Orla Galvin, Executive Director, EFNA, Dr Holm Graessner, Coordinator, ERN-RND, Dr Claire Skentelbery, Director General, EuropaBio and, Prof Mimoun Azzouz, Chair of Translational Neuroscience, University of Sheffield discussed the importance of balancing the approach to innovating in rare diseases, including the patient perspective in the context of addressing unmet needs and ensuring continued, incremental innovation in rare diseases. The final remarks were to create clarity on existing opportunities, and try to identify shared solutions from different stakeholders, to pioneer the rare disease ecosystem. National experts will need to be involved to give voice to peculiarities that need to be taken into account in specific Member States.