Turning the challenge of rare diseases into an opportunity for Europe

The EU has taken steps to advance research in the field of rare diseases, says John F. Ryan.

By John F. Ryan

04 Nov 2014

Rare diseases are a unique area of public health policy, particularly in the European Union. This is because a person suffering from a rare disease often spends years feeling not only ill, but also unsupported and marginalised before the disease is correctly diagnosed. The medical expertise best placed to diagnose such a rare disease may practice in another region or in another member state. Even when the disease is identified, there is often no appropriate treatment available as scientific knowledge on specific rare diseases is usually insufficient and scattered.

"Rare diseases affect between 27 and 36 million people in total across the EU, making it a health policy area where the EU can deliver clear added value"

While the patient population for a specific rare disease is small, rare diseases affect between 27 and 36 million people in total across the EU, making it a health policy area where the EU can deliver clear added value. Indeed, the EU dimension and cooperation between member states can make a difference by pooling together knowledge and expertise, in fostering research and cooperation and in granting authorisation for the best possible medicines for the whole of the EU.

Rare diseases were identified as a public health priority as early as 1993. However, it was in 2008 that the commission took tangible action with the adoption of an overall policy framework, in the form of a communication – 'Rare diseases: Europe's challenge'. The aim of the communication was to support member states in their efforts to improve diagnosing, treating and caring for rare disease patients in the EU. Alongside the communication, member states committed to putting national strategies in place, in accordance with the council recommendation on action on rare diseases. A recently published implementation report highlights that 16 EU countries now have rare diseases strategies in place.

The directive on the application of patients' rights in cross-border healthcare also plays a critical part in addressing rare diseases. It allows the commission to support member states by making health professionals aware of the tools available to assist the diagnosis of rare diseases. It also fosters awareness among stakeholders of the possibility to refer rare disease patients to centres of expertise in other member states.

"The pharmaceutical industry has been reluctant to invest in research and development of relevant medicinal products because of the low return on investment"

When it comes to treatment, rare diseases patients are as deserving of high quality medicines as any other patient. However, the pharmaceutical industry has been reluctant to invest in research and development of relevant medicinal products because of the low return on investment.

In response to this, the EU introduced legislation in 2000 to provide incentives for the development of the so-called 'orphan' medicinal products for rare disorders (life-threatening or very serious conditions affecting no more than five in 10,000 people).

The EU regulation on orphan medicinal products sets out a procedure for their designation and puts in place incentives for research, development and market placement. To date, the European commission has authorised 106 orphan medicines and has designated 1058 products as orphan medicinal products. The sponsors developing these products benefit from incentives such as protocol assistance, fee waivers for the regulatory procedure or a 10-year market exclusivity. This aid should facilitate the development and authorisation of innovative medicines for the benefit of the patients.

The international rare disease research consortium (IRDiRC) was launched in April 2011 to tackle the challenge of insufficient and fragmented knowledge on rare diseases. IRDiRC brings together researchers and funding agencies in order to deliver 200 new therapies for rare diseases and diagnostic tools for the rarest diseases. Related challenges include the need to secure access to harmonised data and samples, perform the molecular and clinical characterisation of rare diseases, boost translational, preclinical and clinical research, and streamline ethical and regulatory procedures.

Groups of rare disease patients have adopted the motto "alone we are rare, together we are strong". This is exactly the sentiment behind EU action in this area. By promoting cooperation, pooling information and expertise, providing incentives for the development of appropriate medicines and teaming up on research to provide patients with timely diagnosis, we aim to make life easier for all rare disease patients, who collectively account for tens of millions of EU citizens.