This article is part of our special report Rare diseases: Ensuring Europe remains at the forefront of innovation.
In shaping the future of rare diseases policies all stakeholders should cooperate to create an environment that actively supports research and clinical development of orphan medicinal products (OMPs). This entails building synergies all across the innovation ecosystem to address the many hurdles related to prevention, treatment and care of rare diseases.
Alexander Natz is the Secretary General of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE).
Companies working on rare disease – a multifaced reality in continuous evolution
At EUCOPE, with half of our 130 members active on rare diseases, we know that when it comes to rare diseases one size truly does not fit all. The upcoming publication of the OMP and Paediatric Regulations evaluation offers ground for reflection: before the OMP Regulation (141/2000) came into force there was hardly any focus on rare diseases. Since 2000, the number of authorised orphan medicines increased from 8 to 169. The Regulation is among the factors that allowed a whole innovation ecosystem to thrive, spanning from global pharmaceutical corporations to smaller companies, start-ups and research centres. As highlighted by a study EUCOPE commissioned to the UK Office of Health Economics, more than a third of granted marketing authorisations for OMPs are held by OMP-focused developers. Many of these companies make little or no revenue yet, mostly due to enormous upfront investment in research and development. For these companies, incentives are vital because they enable them to invest (and reinvest!), often building on the knowledge, expertise and the long process of trial and error that leads to scientific breakthrough.
Unmet medical need in rare disease – What’s in a name?
Despite increasing use of the term unmet medical need, there is no agreed common definition of this concept. It can vary significantly depending on the intended purpose and different stakeholders. When it comes to rare diseases, we face a staggering 95% of conditions without any therapeutic options. However, we believe that, while crucial, absence of any therapeutic option is hardly the only unmet need to take into account. Diseases severity, patients, families and carers quality of life are also essential elements of the equation. The OMP regulation allows a product to demonstrate a significant benefit compared to the existing standards of care and thus to be granted the OMP designation in the same indication. Not all patients respond to the same treatments in the same way, therefore the improvements brought by new products in the same indication should not be underestimated.
Furthermore, when addressing unmet needs of people with rare diseases, including improving their quality of life, the OMP Regulation is only one piece of the puzzle. For instance, timely diagnosis of a rare disease and the availability of expert centres in the EU, which are now fostered by the European Reference Networks (ERNs), are key elements too.
Playing devil’s advocate: the incentives to develop therapeutic options for rare diseases have done plenty but there are more elements to consider for future success.
While the OMP regulation has done a great deal to foster the development of OMPs, competitiveness in Europe is decreasing which might lead to postponing innovation, which will be detrimental to patients. As highlighted in an event recently hosted by EUCOPE there are still significant hurdles in speeding up from science to treatment and fully capturing the value of what new OMPs can bring.
Multifaced issues concerning rare diseases need equally articulated responses. Breaking it down is no easy task but it is also a duty that the whole rare disease community shares.
EUCOPE believes that any future success in rare disease policy should include these three elements:
- Global cooperation: Rare diseases is not a field where Europe can operate alone. Next to strong incentives’ ecosystems, global regulatory cooperation is a reality that needs further attention.
- The power of data: We cannot miss out on the opportunity to break down the data silos barriers, make the most of real-world evidence to strengthen our network of knowledge, improve disease registries for rare disease and also find common standard to make the most of it throughout the lifecycle of medicines.
- Innovative pricing models: All this innovation has little value if it does not reach the patients, this is why innovative pricing solutions to bring rare diseases therapies to the market will be key.