Rare Diseases: EU Orphan Regulation, backing innovation to address unmet needs

Our capacity to keep on developing new treatments for people living with rare disease depends on Europe’s research ecosystem

By Nathalie Moll

Nathalie Moll is Director General of the European Federation of Pharmaceutical Industries and Associations (EFPIA)

23 Feb 2022

In times of pandemic, we have all looked to medical innovation to help us tackle the coronavirus. For the 30 million Europeans living with rare diseases, new breakthroughs in medicine are, all too often, their main hope for a better quality of life or even a cure.

Over the last 20 years we have witnessed some incredible advances in orphan medicine, in part driven by the adoption of the EU Orphan Regulation in 2000 which, for the first time incentivised research and development of new treatments for people living with rare disease. Since its implementation, we have gone from only 8 licensed treatments for rare disease to more than 190 today, making it possible to treat up to 6.3 million patients in the EU.


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. 


Despite progress, there remains no treatment options for people living with 95% of rare conditions. As Europe reviews and renews its Orphan Regulation, we have to ensure two things; firstly, a research and development ecosystem in Europe that can help meet the needs of patients where no treatment options exist and secondly, where there are licensed treatments available, faster, more equitable access for patients across Europe.

Exciting science like cell editing and gene therapies are making it possible to treat diseases we once thought impossible

Creating a research and development ecosystem that will deliver the next generation of treatments means having the right incentive framework as well as addressing the scientific and regulatory challenges in the development of new treatments for rare diseases. Rare diseases are some of the most complex and scientifically challenging diseases to tackle. We need to share a ‘moon-shot’ mindset to foster scientific breakthroughs, lower existing barriers, and develop well-calibrated incentives.

We have witnessed the power of incentives in stimulating research. Since the EU Orphan Regulation was adopted in 2000, clinical trials in rare diseases have increased by 88% and 230 SMEs have been launched focusing on rare disease research. Understanding how breakthroughs in rare disease occur is key to creating incentives that really work in the new regulation. New treatments come from incentivising broad avenues of scientific discovery, then following the most promising science to make breakthroughs that can be applied across a number of potential diseases areas. Narrowing the scope of incentives to focus on one particular disease area would stifle rather than accelerate the development of new medicines for rare disease.

Exciting science like cell editing and gene therapies are making it possible to treat diseases we once thought impossible. They are transforming treatment paradigms from a life time of medical interventions to a one-off treatment, even a cure. These new ways of tackling rare disease require new approaches to introducing them in to health systems. It means finding new finance models that ensure access for patients and sustainability for health systems. It means building on the progress of innovative arrangements like managed entry agreements and early access schemes, coming together in a multistakeholder dialogue to support patients’ access.

As Europe looks at its Orphan Regulation, for the 1 in 17 Europeans living with rare diseases, now is the time to really back innovation and boost access.

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