1.Context

In the 1980s and 1990s, the level of awareness concerning the lack of satisfactory treatments for patients with rare diseases and for children in the EU started to increase.

The pharmaceutical industry showed insufficient interest in investing in the development of medicines for rare diseases and for children. Doctors treating patients with rare diseases often had no medicines available, and a similar situation occurred for children. In 2000 and 2007 the EU therefore introduced two regulations to foster the development of medicines for rare diseases and for children .

The results of the evaluation will guide reflections on any future changes to the legislative framework. It will also inform the EU’s pharmaceutical strategy , which seeks to improve and accelerate patients’ access to safe, effective and affordable medicines and to support innovation in the EU pharmaceutical sector.

2.Evaluation

The evaluation assesses the strengths and weaknesses of the two regulations over 2000-2017 (medicines for rare diseases) and 2007-2017 (medicines for children). It follows an evidence-based analysis of the functioning of the two instruments from a public health and socio-economic perspective. The two regulations are evaluated together as the majority of rare diseases may appear already in children and many children’s diseases are also rare.

Three independent studies were used, as well as reports by the European Commission and the European Medicines Agency. The evaluation also gathered information from all relevant interested parties through workshops, public and targeted consultations. Triangulation of information has been sought through the use of different sources of information and inclusion of a large number of stakeholders. However, some areas are supported by less robust evidence than others. That was in particular the case for the baseline scenario and the cost-benefit assessment.

3.Key findings

The evaluation found that both regulations have fostered the development and availability of medicines for patients with rare diseases and for children. They have redirected private and public investment towards previously neglected areas through incentives, obligations and rewards. Member States alone could not have achieved this result due to the small number of patients concerned and the fragmentation of the market.

A number of both EU and national research programmes in the field of rare diseases have complemented the legislation. However, the information available does not allow a direct link to be drawn between the public funding and the medicines effectively developed.

The number of medicines for patients with rare diseases and for children has increased. Medicines for patients with rare diseases have also become available faster and have reached a higher number of patients in the Member States. Similarly, the Regulation on medicines for children increased the number of clinical trials in children and, consequently, the development of new medicines for them. It reduced the ‘off-label’ use of medicines for adults in children, which were not specifically tested or adapted for use in children (‘off-label’ use)and favoured the creation of a ‘paediatric research environment’ in Europe.