EU must promote investment and innovation in rare disease research

Patients with rare diseases need improved access to treatment, writes Elisabetta Gardini.

By Elisabetta Gardini

05 Nov 2015

To understand why we need to invest in research for drugs to tackle rare diseases, the best thing to do is to focus on those directly affected. 

As policymakers, we have a responsibility to ensure that the EU continues to incentivise the development and adoption of innovative new treatments for rare diseases.

In the past, people suffering from rare diseases have been neglected. They have faced many difficulties, including struggling to get a correct diagnosis. Pharmaceutical companies were not interested in investing in lengthy and unprofitable R&D activities, a process complicated by geographically dispersed patient populations. 


Due to the low prevalence of the diseases (less than five in 10,000 cases for rare diseases and less than one in 50,000 cases for ultra-rare diseases) and the lack of adequate incentives for orphan drug development, patients often had no access to effective treatments. 

Thanks to the work of patient associations, things are changing for the better. By adopting the regulation on orphan medicinal products, legislators also played a role in encouraging businesses to invest in this niche sector.

However, this is not enough. Safe and effective treatments are still only available for a small percentage of the 6000- 8000 known rare diseases. A first step in finding a solution will be a single centralised health technology assessment (HTA) agency. Enhanced cooperation, seen with the creation of an EU HTA, will help improve the situation. 

As I had the opportunity to say during September's debate in Strasbourg on the sustainability of healthcare systems; to guarantee universal access to essential healthcare services, we need an efficient, long-term strategy.

We also we need to construct a roadmap to further promote investment and innovation. Given the smaller patient populations and the limited understanding of rare diseases, data can be difficult to obtain because there is less of it.

The efforts of the European Medicines Agency (EMA) to improve transparency by releasing clinical trial data must take into account the unique nature of orphan drugs data. It should not undermine the necessary incentives for orphan drug development.

We ask that the EMA and the Commission to address these issues in the implementation of the regulation on clinical trials. 

We need to encourage future research on orphan drugs without undermining the dedicated regulation on orphan medicinal products aimed at facilitating R&D activities in the field of rare diseases.

Much has already been achieved though more needs to be done in the field of rare diseases. We need innovative strategies and a joint commitment to achieving progress. 

Patients, industry and policymakers represent the strongest alliance force for finding solutions to the challenges ahead.