The European Commission jointly evaluates the Orphan and Paediatric Regulations

The European Pharmaceutical Strategy was recently released and it includes strengths and weaknesses of the legal instruments and the European Commission is preparing the review of the legislation on medicines for rare diseases and children: the Orphan and Paediatric Regulations.

The EFFECTIVENESS of both regulation on the R&D of new medicines for these patients and their timely availability and coverage of unmet needs, the EFFICIENCY in improving their quality of life and increasing profitability of companies, the RELEVANCE to bring medicines on the market keeping the most advances in the pharma sector, the COHERENCE of the established provisions and incentives applying together with the other EU instruments and provisions, the EU ADDED VALUE with respect to the changes achieved through regional/national actions. 

The Commission underlines the great efforts made in Europe on the availability of drugs for rare diseases thanks to the incentives issued by the regulations. 1956 orphan designations have been granted covering 698 different indications. The number of medicines for rare diseases greatly improved: since the adoption of the Regulation in 2000 and up to 2017142 orphan medicines have been authorised, of which 131 have remained on the market. The authorised products have helped up to 6.3 million European patients out of roughly 35 million patients in the EU suffering from rare diseases and increased their quality of life as the cost per QUALY gained was on average between 45,5 K€ and 119 K€. 

Unfortunately, the number of medicines for rare diseases is still limited, and this is more evident in certain therapeutic areas and for genetic rare diseasesAbout half of drugs approved in the EU for a rare disease affecting children has no indication for children, even if clinical trials including children increased of almost 50%. 

What emerges is that both regulations have not adequately managed to support R&D in areas where the need for medicines is greatest and completing the R&D process still remains a challenging issue for an orphan medicinal product. 

EJP RD is going to prepare a position paper to highlight the point of view of researchers, clinicians and patients and discuss how to address identified gaps and weaknesses in the rare diseases research.