With the EU pharmaceutical legislation up for review in the coming months, now is the time to consider what really drives the discovery and development of new treatments in key areas, such as rare and paediatric diseases.

To understand what is needed in the future, it is important to reflect on our recent past. In the field of rare and paediatric diseases, the EU orphan medicines and paediatric regulations have transformed the landscape in areas of significant unmet need for patients in Europe. Although there is much room for further innovation, the success of these legislations should be explored as they provide invaluable insights into what really works in driving the science behind unmet need.

The EU Regulation on Orphan Medicinal Products (OMP) was introduced in 2000 to address the challenges that were holding back innovation in rare diseases. At that time, there were just eight treatments approved for the more than 6,000 known rare diseases. The primary problem was a lack of investment in R&D due to scientific hurdles and market failures. It takes 12-15 years to bring a new drug to market, at a cost of more than €2 billion, yet the market for orphan medicines was inherently small.

Similarly, 15 years ago, the EU Paediatric Medicines Regulation was introduced because we had too few medicines for treating children, leaving the youngest patients in need. The Regulation sent a clear signal that action was needed in paediatric medicines development and introduced a framework of obligations and rewards to make it happen.

They worked. More than 290 new paediatric medicines and indications for children have been approved in the EU and paediatric medicine development is now an integral part of the overall development of medicines. 22 years after the entry into force of the OMP regulation, there are more than 200 new therapies available, and the profile of rare diseases has grown significantly. However, these successes have revealed deep inequalities across Europe in how rare diseases are treated. In short, approval of new therapies does not always translate into access for patients.

Unequal access

The numbers are striking. While almost all (95%) of orphan medicines are available to patients in Germany, those in other EU countries are much less fortunate. In Denmark, the next best country for access to orphan medicines, fewer than half (42%) of OMPs are fully publicly available, with limited access to 33% of approved products. At the other end of the spectrum, patients in Lithuania, Latvia and Malta have access to almost none of the newest rare disease treatments.

As well access to more medicines than other patients, German patients also get access to the latest therapies much earlier than their peers in other EU countries. While people in Germany wait around 100 days for approved orphan medicines to become available, their counterparts in Romania wait an additional two years. These inequalities must be addressed as we look to build on the progress achieved to date.

We see a path to boosting innovation in the field of rare diseases – where there are still no treatments for most rare conditions – and improving access to medicines that make it to market.

As the OMP legislation illustrated, intellectual property has a vital role in attracting sustained investment in rare diseases research. That is why we must protect existing incentives for orphan medicines and build on their success.

EFPIA has developed a proposal for Orphan Market Exclusivity (OME) that retains the current 10-year exclusivity but modulates it up or down (between 7 and 12 years) based on a set of clear and predictable criteria. For example, products addressing underserved patient needs would ‘gain’ two years while repurposed medicines with ‘lose’ two years of exclusivity.

Tackling unmet medical need

This approach is in keeping with the need to target unmet medical need (UMN). We support a broad understanding of UMN which takes account of the patient perspective of conditions for which prevention, diagnosis and treatment are inadequate.

In order to tackle unmet needs in paediatric diseases, EFPIA is proposing a framework grounded in robust science, for Paediatric Investigation Plans (PIPs) that can be based not on the adult indication, but on a paediatric need that the treatment can address based on its Mechanism of Action (MoA). In practice, that would allow a therapy developed for an adult illness to be studied in a different childhood disease because both have the same cause.

This child-centric PIP approach would require significant efforts and present new scientific challenges. It will be critical to ensure that it is based on robust science and is framed in a way that ensures that such child-centric PIPs are scientifically and clinically meaningful, doable, and do not place undue burden on innovation.

We need to think big to tackle UMN rare and paediatric diseases. EFPIA and EURORDIS are calling for a ‘Moonshot’ approach to these underserved conditions, embracing an open-science model to catalyse collaboration and accelerate research. 

5-point plan

Finally, we cannot dream of future breakthroughs without circling back to the question of access and fairness. We at EFPIA have developed a five-point proposal to improve patient access to innovative medicines that will reduce inequalities in the EU.

1. We committed to file pricing and reimbursement applications in all EU countries as quickly as possible and no later than 2 years after EU market authorisation.
2. We created a European Access Portal that will increase the transparency around market launches of new innovative medicines across countries, and help identify and address the root causes of access delays.
3. We developed a conceptual framework for Equity-Based Tiered Pricing, to ensure that innovative medicines are priced according to countries' ability to pay.
4. Novel payment & pricing models can accelerate access by allowing payers to manage clinical uncertainty, budget impact and sustainability while incentivising innovation
5. Industry will contribute to achieving an efficient system of European assessments of relative efficacy at time of launch in the context of the implementation of the Health Technology Assessment (HTA) Regulation.

Europe has come a long way in advancing rare and paediatric diseases and we have many miles still to go. But we now have the tools, the will and the momentum to build on what has been achieved. Now is the time to back innovation and boost access.