A hidden priority: the paradox of rarity (EURORDIS perspective)

Abstract

Six thousand to nine thousand different rare diseases according to different classifications have been identified to date and new conditions appear each month as reported in the scientific literature. Although each rare disease affects very few people, when all > 6000 diseases are taken collectively, 30 million people are affected in Europe alone. Each rare disease impacts not only the person suffering, but also entire families, communities, and our society as a whole. This is the paradox of rarity we face today.

Keywords::

• European Organisation for Rare Diseases
• National Organization for Rare Diseases
• orphan drugs
• rare diseases

Six thousand to nine thousand different rare diseases according to different classifications have been identified to date and new conditions appear each month as reported in the scientific literature. Although each rare disease affects very few people, when all > 6000 diseases are taken collectively, 30 million people are affected in Europe alone. Each rare disease impacts not only the person suffering, but also entire families, communities, and our society as a whole. This is the paradox of rarity we face today.

Rare diseases have long been a ‘hidden priority’ but this is changing. With successful annual global campaigns such as Rare Disease Day, launched in 2008 by EURORDIS [1], the European Organisation for Rare Diseases, rare diseases are no longer ‘hidden’ but are becoming an acknowledged, open priority at local, national, European, and international levels. At the European Union (EU) level, rare diseases are recognized as a Public Health priority and as an area of uniquely high European added-value for Community action.

EURORDIS has been advocating on behalf of people with rare diseases since 1997. Today, we represent 624 rare disease patient organizations in 58 countries, and encompassing > 4000 different rare diseases. Our overall mission is to build a strong pan-European community able to speak with one voice, to act together, to engage with all stakeholders in order to create positive change for all people with rare diseases.

The National Organization for Rare Diseases is equally active in the USA, and together with other organizations around the world, we are building a strong global network and voice to promote rare diseases as an international public health priority and to help address the challenges of people living with rare diseases around the world. We are creating the framework and unleashing the forces that in turn will generate new solutions.

In the EU a rare disease is defined as any disease affecting fewer than 5 people in 10 000. By bringing together all rare diseases across Europe, we create a critical mass of 30 million people who are no longer hidden. Together, we can address the common issues faced by patients and their families. Together, we are successfully breaking the isolation of children and adults who are amongst the most vulnerable citizens in our society today. Together, we call for public awareness, social justice, and real solutions.

EURORDIS is actively involved in the rare disease and orphan medicine-related initiatives of the European Parliament, the European Commission, and the European medicines agency (EMA). Working together, we are seeing changes at the European level that are improving life for people with rare diseases and which serve as a model and a source of inspiration for the rest of the world. Most recently we contributed to legislations that impact the lives of people with rare diseases, including the 2008 Commission Communication Rare Diseases: Europe’s Challenges, followed by the 2009 Council Recommendation, and the 2011 Directive on Patients’ Rights in Cross-border Healthcare. These complete the 1999 EU Regulation on Orphan Medicinal Products in establishing a comprehensive and integrated EU strategy for research, diagnostics, treatment, and care.

This framework of EU legislations and policies coupled with a growing place in EU research and health budgets allows us to address the many challenges of rare diseases. These challenges overwhelmingly involve ‘access’: access to timely diagnostics; access to appropriate medical expertise; access to accurate and current information; to specialized social services; to medicines, and to other treatments.

Access to rare disease medicines is a crucial and complex topic. Orphan medicines for rare diseases prompt the ongoing societal debate over the high cost of innovative treatments. The situation in Europe is challenging – marketing approval for new treatments is decided at the EU level while coverage decisions are taken at national levels. However, a new paradigm is emerging and issues around development, price, reimbursement, and actual access for patients are being addressed and advanced. EURORDIS is spearheading these policy discussions to promote a new viable business model for companies and investors as well as an economically sustainable model for society in providing innovative treatments to rare disease patients.

Rare disease medicine development costs can be lowered, whereas development success can be increased by the use of adaptive designs for clinical studies, alternative statistical methods, alternatives to animal models, wider use of biomarkers, and development of patients’ relevant outcomes. Progressive Patient Access/Adaptive Licencing, with stringent post-marketing benefit-risk research, for conditions where no alternative treatment exists, would generate a continuum of evidence generation before and after approval, allowing for earlier market approval, thus permitting earlier access, higher success rates of development, lower initial price uptake, and a new deal between sponsors/marketing authorization holders – payers. These kind of win–win scenarios require honest dialogue between patients, physicians, industry, payers, health technology assessment bodies, and regulators.

Such dialogue has already started and more entities need to engage in the debates and pilots. Ultimately, it is all about making sure innovative therapeutic solutions actually reach the patients, at as early a stage as possible. I am convinced that this is where we are heading, though perhaps it will take time to get there.

2014 could be a turning point for the next decade. Across Europe, national rare disease plans are being consolidated and increasingly integrated into common European approaches, with European Reference Networks and European Research Infrastructures providing new opportunities to translate research into innovative treatments, and information technology into knowledge generation, all leading to better care.

It is encouraging to see that the regulatory agencies are doing their part. EMA and the FDA have established channels of cross-Atlantic cooperation. The two agencies have developed common procedures for application for orphan designation [2] and share information on pharmacovigilance [3], scientific advice [4], biomarkers [5], and other key issues.

The International Rare Diseases Research Consortium (IRDiRC) [6] is allowing patients, researchers, and other stakeholders to join forces at the international level to bring diagnostics and treatments to patients. This is an example of true international collaboration. As Chair of the Therapies Scientific Committee for the IRDiRC, I am excited by the global momentum that is moving toward the IRDiRC goals of developing 200 new therapies by the year 2020 and the means to diagnose most rare diseases.

As research advances translate into more treatments for rare diseases, we need the mechanisms in place that allow health systems to sustain expenditures for their citizens. These mechanisms, if robust and sustainable, will in turn encourage new investment and development to flourish. This is the virtuous circle we envision and encourage.

I am hopeful when I see participation in > 80 countries for Rare Disease Day 2014 [7]. As has always been the case for rare diseases, patients and families are driving forward change. EURORDIS works hard to empower patients to effect these changes – providing tools, training, and information that enable people with rare diseases to advocate for the policies that will lead to the provision of care, treatment, and services.

This issue of Expert Opinion on Orphan Drugs, dedicated specifically to rare diseases, creates one more stepping stone toward shaping a favorable policy environment, building the path to understanding and treating people living with a rare disease.

Declaration of interest

YL Cam is the Chief Executive Officer of EURODIS. The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants, or patents received or pending, or royalties.