Rare Disease Awareness Day: Tackling the burden of rare disease

Getting any diagnosis can be a shock, and shock quickly turns into questions; on prognosis, about treatment options, impact on quality of life, on family and friends. Where do I find information about my condition? How can I share experiences with other patients and learn from them? These questions will be particularly familiar to the 30 million[1] Europeans living with rare diseases. Fifty per cent of rare disease diagnoses are during childhood, meaning all those questions and worries are often carried by parents with the added burden of trying to teach, often very young, children about managing their condition.
This is why, as an industry, we are working tirelessly to find new treatments for 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; of the 26 medicines identified, 10 were first developed for rare diseases[4].
For people living with rare diseases, the fruits 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].
For a new treatment to receive orphan designation in Europe, as well as meeting the prevalence criteria, it must treat a disease that is life threatening or chronically debilitating and there must be no existing authorised satisfactory method of diagnosis, prevention or treatment of the condition. If such a method exists, the medicine must be of significant benefit to those affected by the condition. This is why 1,952 new orphan designations that meet all three criteria, leading to 164 new authorised treatments, represents a significant step forward in the fight against rare diseases.
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 investors in the new treatment all work toward that shared goal of access. By 2014, 20 European countries had developed national rare disease plans[7].  A number of countries across Europe have implemented HTA[8] and reimbursement practices specially designed to address the questions posed by the introduction of orphan medicines into the system. Companies too, are bringing forward flexible approaches to support patients’ access to new medicines. Flexible approaches such as managed entry agreements were implemented between 2006 and 2012 across Italy, the Netherlands, England and Wales, Sweden and Belgium for 26 orphan medicines, featuring innovative approaches such as performance-based arrangements or financial-based agreements.
The progress we see today is directly related to the implementation 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”[9].
Prior to the introduction of the legislation, only 8 orphan-like medicines were available for patients[10] while in just 18 years that number has risen to 164. European policy makers should be very 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.
No one can win the fight against rare disease on their own. From research and development to regulation, HTA and the introduction of new orphan medicines into healthcare systems, on Rare Disease Day, we reaffirm our industry’s commitment to working with all parts of the eco-system to tackle the burden of rare diseases.
[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:
[6] EMA. Available at:
[7] Rodwell C and Ayme S. Biochimica et Biophysica Acta 1852. 2015;2329–35
[8] Health Technology Assessment
[9] 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

Nathalie Moll

Nathalie Moll joined the European Federation of Pharmaceutical Industries and Associations (EFPIA) as Director...
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Vinciane Pirard

Vinciane is senior director of public affairs at SANOFI where she is responsible for rare diseases and specialty...
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