Living with rare disease: hope for the future, access today

When I consider the priorities for our industry, two of the most critical are; to develop the next generation of treatments that can transform the lives of patients and help address the challenges faced by our healthcare systems and secondly, to ensure access to existing medicines, a goal and responsibility we share with governments and health systems.
Hope for the future
We are working tirelessly to find new treatments for the 30 million[1] Europeans patients living with rare diseases. The number of clinical trials focused on rare diseases has increased by 88% between 2006 and 2016[2]. Research and development into rare diseases is right at the cutting edge of science and technology and pushes the boundaries of medical knowledge. At least 577 (current and pipeline) rare disease products use new technologies such as cell and gene therapies, antisense RNA interference therapy and monoclonal antibodies to precisely target the disease site[3]. In fact, a survey of approximately 180 expert physicians aimed to identify the most transformative medicines of the past 25 years; shows that of the 26 medicines identified, 10 were first developed for rare diseases[4].
For people living with rare diseases, the results of that investment have been significant – 1,952 new orphan designations[5] leading to 164 authorised new treatments for around 90 rare diseases between 2000 and 2018[6].

Nathalie Moll

Nathalie Moll joined the European Federation of Pharmaceutical Industries and Associations (EFPIA) as Director...
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When policy drives progress
The progress we see today is directly related to the establishment of the European Orphan Medicinal Products Regulation in the year 2000. As the European Commission described the situation “In the course of the 1990s, a number of Member States adopted specific measures to improve our knowledge of rare diseases and their detection, diagnosis, prevention and treatment[...] but initiatives in this field were few and did not lead to significant progress in research on rare diseases”[7].
Prior to the introduction of the legislation, only 8 orphan-like medicines were available for patients while in just 18 years that number has risen to 164[8]. European policy makers should be extremely proud of the fundamental role they have played in tackling rare diseases by developing and approving the Orphan Medicinal Products Regulation. After years of lagging behind other regions of the world that had implemented specific legislation earlier than Europe, the regulation created an environment that has fostered investment and innovation specifically in Europe, leading to a greater understanding of rare diseases and importantly to new treatments. The legislation has raised the profile of rare disease in Europe making it easier for patients to form networks thereby accessing crucial information and communicate their experience and expertise across the research and healthcare communities.
For every case where a new treatment has been developed there are however many more rare diseases where currently no treatment option exists. So much more needs to be done for the 1 in 17 [1] Europeans living with a rare disease. We need to ensure a stable and predictable regulatory environment that continues to support and inspire further research into new treatments for rare disease. We need to work collaboratively across the life sciences sector, including critical SMEs on its implementation and create an environment in Europe that realises the potential of rapidly advancing science like gene and cell therapies.
Access today
Of course the potential of these new treatments can only be realised if patients have access to them and in our experience, everyone in the healthcare eco-system; the patients, their families and carers, clinicians, payers, health systems and the companies that develop the new treatment all share that same goal of access. There are two key components to ensuring patient access to new treatments.  The first is navigating Europe’s regulatory process.  The second is to go through national pricing and reimbursement procedures before a new treatment can be given to patients and reimbursed by health systems.
In Europe, our industry, regulators and health systems need to work together to make new treatments available to patients faster.  From the regulatory perspective, that means maintaining Europe’s world class regulatory system, making the most of real world evidence and advances in data analytics to evolve our systems and processes to keep pace with the rapidly advancing science and changing treatment paradigms.
Once a treatment is licensed for use in Europe, industry, healthcare systems and governments share the responsibility of ensuring that patients get access to the new treatment. Again, thanks to the European Regulation, there has been significant progress in this area. By 2014, 20 European countries had developed national rare disease plans[9].  A number of countries across Europe have adapted HTA[10] and reimbursement practices specially designed to address the questions posed by the introduction of orphan medicines into the system. Companies too, are bringing forward solutions to support patients’ access to new medicines. Flexible approaches such as managed entry agreements have been implemented across a number of European Countries, featuring innovative approaches such as performance-based arrangements or financial-based agreements.
Despite the progress, healthcare systems continue to raise concerns about managing the introduction of new treatments, particularly in the case of cell and gene therapies which can replace a life-time of care with a one-time treatment and where the costs are borne by the health system upfront.  Clearly this is immensely challenging for health systems already under pressure from increased demand for their services.
It is here where our industry, healthcare systems and governments need to find new ways to finance these treatments that ensure access for patients and sustainability for health systems. We believe it is time for different type of conversation and EFPIA supports the EU Health Summit’s call for a multi-stakeholder High-Level Forum on Access and Healthcare Transformation [11] to bring all actors together to discuss how to ensure access to new treatments and technologies today, medical innovation for tomorrow and sustainable healthcare systems in a globally competitive Europe.
Right policy, right priority
For patients living with rare diseases, it is critical that we find the right policy solution for each priority.
Addressing the needs of the 95% of patients living with rare disease where no treatment option exists means standing by the OMP regulation and drive further research into the next generation of treatments and cures.
To ensure patients get access to these new treatments is a different discussion which has to include regulators, health system partners, industry and governments in finding collaborative approaches to support access to and availability of treatments for rare disease. We believe that a High-Level Forum on Access and Healthcare Transformation would be the ideal vehicle to address such issues in partnership.
Choosing the wrong policy tool to address an issue will have a negative impact on people living with rare diseases both now and in the future.  For example, trying to address issues of access and availability to new treatments through an OMP Regulation designed to create new treatment options will not improve access now and will harm access in the future for the 95% of patients where no treatment option exists today. We do not believe that opening the regulation is the way to address issues of access. Changes to an existing framework that has been proven to generate innovation, would discourage new investments & research in the rare disease space in Europe and be a be a retrograde step in the search for new treatments and cures.

Rare diseases are some of the most complex, scientifically challenging diseases to tackle but #WeWontRest in supporting patients living with rare disease. Our aim is that no patient group is left behind. Not the 95% of patients where no treatment options are available today, nor patients waiting to access existing treatments.

[2] Evaluating the Orphan Regulation and its impact on patients and rare disease R&D in the European Union. Available at:
[3] Groft SC. Chest. 2013;144(1):16–23
[4] Kesselheim A and Avorn J. Nature Reviews Drug Discovery. 2013;12;425–31
[5] EMA. Available at:
[7] European Commission. 2015. Inventory of Union and Member State incentives to support research into, and the development and availability of, orphan medicinal products — state of play 2015
[9] Rodwell C and Ayme S. Biochimica et Biophysica Acta 1852. 2015;2329–35
[10] Health Technology Assessment
[11] A shared vision for health, Paving the Way in 2019, recommendations in Full. EU Health Coalition 2019