Orphan medicines: How the draft pharmaceutical legislation proposals would impact rare disease patients?
Plans to overhaul the EU regulation on rare disease therapies risk undermining two decades of progress, a new report has found. The assessment, commissioned by EFPIA, was conducted by Dolon, a strategic consultancy specialising in rare diseases.
The European Orphan Medicinal Product Regulation was introduced in 2000 to incentivise the development of new medicines for people living with rare disease. It worked: the number of EU-approved medicines for rare diseases was in single digits two decades ago. To date, over 205 new treatments for orphan diseases have been approved.
The new study analysed the potential impact on innovation of the changes proposed by the European Commission in April 2023 as part of a wider overhaul of the general pharmaceutical package.  It found that, as currently written, the proposals would have a negative impact on the development of 45 products in Europe corresponding to a 12% decrease in innovation. This could deprive around 1.5 million European rare disease patients of a novel treatment option and would mean a further decrease by €4.5 billion in R&D spending in Europe.
The research also examined the effects if even more profound changes to existing incentives for innovation were introduced, such as further reducing orphan market exclusivity and tighter criteria for securing orphan designation. Under this scenario, modelling conducted by Dolon shows that there would be 135 fewer orphan products developed between 2020 and 2035, with severe implications for patients, productivity and research spending.
These results underline the dramatic influence that the policy environment has on innovation and the knock-on effect on millions of patients. Disrupting the existing framework also jeopardises the goal of building an ecosystem that supports the development of innovative medicines and the wider commitment to advance Europe’s industrial competitiveness.
“Europe’s policy and legislation on orphan medicines have been a success. They are a poster child for how the right combination of incentives and support can and do stimulate the development of medicines for people with rare diseases,” said Nathalie Moll, Director-General of the European Federation of Pharmaceutical Industries and Associations (EFPIA). “This robust report on the impact of the Commission’s currently proposed regulatory changes should give us all pause for thought. We have come too far together to put progress for patients at risk.”
 European Commission (2023). Impact assessment report and executive summary accompanying the revision of the medicines for rare diseases and children legislation. Available here