Rare diseases: Tackling unmet needs and evolving the orphan drug environment

A ‘Rare Conversation’ with EURORDIS’ Yann le Cam, Alexion’s Camilla Harder Hartvig and MEP Pernille Weiss.
Source: Adobe Stock

By Alexion

Alexion is focused on developing & delivering life-changing medicines for people living with rare diseases.

05 Jul 2021


There are around 7,000 rare diseases that we know of today. Each of these conditions only affects a small number of people, but collectively, they impact a large population – estimated at 30 million people in the EU. Most rare diseases are severe and life-threatening. However, 95 percent of people affected still lack an approved treatment option.

In 2000, the EU Regulation on Orphan Medicinal Products (OMP) entered into force, establishing a centralised procedure for the designation of OMPs and putting in place incentives for their research, development, and commercialisation. At the time, there were only eight products to treat rare diseases on the market, compared to 196 today. Despite the success of the Regulation, more needs to be done to advance innovation. It is a critical time to reflect on possible improvements to the Regulation, based on the developments in the past 20 years. The anticipated revision of the OMP Regulation should be aimed at addressing remaining unmet patient needs and enhancing strengths of the current framework.

To ensure this is achieved, this revision must consider the perspectives of different actors involved. As part of this endeavour, three stakeholders, representing patients, policymakers, and industry, share their views on this topic.

Pernille Weiss, Danish MEP in the EPP Group

As a politician and shadow rapporteur of the Pharmaceutical Strategy for Europe in the Committee on Industry, Research and Energy, one of my priorities is to ensure the advancement of research in Europe. Innovation can only be delivered if companies are investing in research and development. To ensure European autonomy in this crucial industrial sector, we need to have measures in place that facilitate these undertakings.

The ongoing COVID pandemic has demonstrated that a strong, innovative European pharmaceutical sector is crucial. Similarly, it is critical that we as policymakers, together with the pharmaceutical sector, contribute to the creation of a resilient healthcare landscape, that ensures innovative medicines for citizens in the EU.

This is even more important for rare diseases, where innovation is urgently needed. Despite existing merits of the OMP regulation, more has to be done: its revision represents an opportunity to further enhance the research and innovation environment in Europe. It is necessary to provide an adequate impulse for innovation, where protection of intellectual property rights and market competitiveness are guaranteed. These conditions are also essential for the EU to be a hub of innovation in the pharmaceutical sector and keep pace with the other regions.

Camilla Harder Hartvig, Senior Vice-President, International at Alexion Pharmaceuticals

Alexion is a global biopharmaceutical company focused on developing life-changing therapies for people living with rare diseases and devastating conditions. We want to contribute to addressing the remaining huge unmet medical need in rare diseases by continuing to innovate in areas where there is great opportunity to help patients and families live their lives to the fullest.

The EU’s orphan drug framework has certainly enabled companies like us to bring therapies to market for these small patient populations. While we acknowledge the need to revise and re-evaluate the incentives, considering the current rare disease landscape, we also call for a careful and balanced revision of the Regulation. It should serve the original objective to enable continued innovation in rare diseases to ultimately improve the care and lives of patients living with rare conditions.

In addition to legislative tools, new models need to be established to achieve meaningful progress in rare diseases. Here, cooperation between stakeholders can play a key role and make a real impact benefiting rare disease patients. A revised framework needs to find a common vision that addresses unmet needs, fosters innovation, and presents a forward-looking, patient-centric and predictable ecosystem.

Yann Le Cam, Chief Executive Officer of EURORDIS

#Jobsnotdone: A new European policy framework for rare disease

While great progress has been made in the last decade and rare diseases are recognised as a public health and human rights priority, for people living with a rare disease in Europe, huge challenges remain. COVID-19 has further exacerbated the vulnerability of people with rare diseases. It has shown the need for more resilient healthcare systems, while demonstrating the possibilities that arise from international research collaborations, and rapidly streamlining procedures and regulatory activity.

A new policy framework is the only way to ensure that progress made for the 30 million people living with a rare disease in Europe is not left to luck or chance during the next decade. We have a rare opportunity to bring policy in step with the scientific, technological, and societal shifts.

Only by implementing new National Plans and policies fit-for-purpose for this decade, aligned with the Europe’s strategy, can we actively design our preferred future: one that prioritises patient-led innovations and social justice, addresses the major gaps in unmet needs while at the same time enhancing Europe's role as the global innovation leader, based upon a cohesive rare diseases ecosystem

Join the debate with #raredisease & #rareconversations

This content was commissioned by Alexion