Learning from the rare disease community

Europe’s pharmaceutical entrepreneurs are taking the lessons learned from this community to develop health innovation which would not have been dreamt of a few decades ago
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By Alexander Natz

Alexander Natz is Secretary General of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE)

25 Feb 2022


Today, numerous health policy reforms and new initiatives are underway or about to launch in Europe – including proposals for revising EU rules on incentivising the development of medicines for people with rare diseases and children, and a targeted review of the general pharmaceutical legislation. Celebrating Rare Disease Day this year, we want to reflect on how the rare disease community can inspire us all as we prepare for these upcoming political milestones.

At the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), we represent mostly small to mid-size biopharmaceutical companies, many of them focusing on rare diseases. EUCOPE co-leads and takes part in several platforms gathering partners around the entire lifecycle of rare diseases therapies. Innovation and cooperation are in our DNA, and we too aspire to lead by example, motivated by the patients we work for and with. One example of this approach is the European Expert Group on Orphan Drugs Incentives.

READ MORE: This article is published as part of our special supplement looking at how Europe can come together to find solutions for people suffering from a rare disease. To read the full supplement click here. 

With EUCOPE and EURORDIS at the steering wheel, the group brings together experts from the rare disease community with the goal to propose innovative multi-stakeholder solutions to improve the environment for orphan medicinal products in Europe. Another example is RWE4Decisions, where we work alongside policymakers, HTA bodies, payers, regulatory agencies, clinicians, patient groups and academic to harness the potential of Real-World Evidence (RWE) for rare disease patients and beyond. There are countless areas where the rare disease community can inspire. Today, we want to highlight three: cooperation, innovation and advocacy.


Rare diseases also represent a pioneering domain for therapeutic innovation. Patients and carers, developers – often young and small companies – and visionary scientists have been leading the way

When reflecting on the rare disease community success stories of cooperation, we think, for instance, of the clinicians, patients and researchers that are behind the European Reference Networks (ERNs): 24 virtual networks involving healthcare providers across Europe to tackle rare diseases and conditions. Few years after their launch, the ERNs became a model for healthcare professionals and hospitals to exchange information on COVID-19 management. Stakeholders in other complex disease areas have called for the creation of similar networks to exchange data and pool their expertise.

Rare diseases also represent a pioneering domain for therapeutic innovation. Once again, patients and carers, developers – often young and small companies – and visionary scientists have been leading the way. Very often, the road to innovation is uphill. Nevertheless, the first therapeutic applications in rare diseases continue to open doors for broader applications in areas ranging from COVID-19 to diabetes.

Rare disease patient advocacy is the engine behind most success stories of cooperation and innovation. In Europe, patient advocates have been instrumental in establishing legislation and policies on rare diseases and orphan drugs. On a global scale, their work resulted in the first UN Resolution on Persons Living with a Rare Disease - a historic recognition of rare disease patient rights and social inclusion.

As we prepare for the many health policy and legislative developments ahead, what can we learn from the rare disease community that will help us provide meaningful contributions? Drawing on the examples above, we have three suggestions: first, we should continue to foster cooperation and pull together knowledge and resources. Second, we should make sure that our EU legislative framework is flexible enough to embrace innovation and ideas of which we would have not dreamt of few decades ago. Finally, we should be inspired by the resilience and resourcefulness of people with rare diseases that see an opportunity where most see a challenge.

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