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Rare diseases may be rare but they still affect up to 36 million people in the EU. Despite advances in research and the exchange of good practices, Europe is still failing patients with rare diseases on many fronts
In the last two decades, the EU may have made fairly remarkable progress when it comes to building knowledge or exchanging information on rare diseases (RD) but patients with RDs still often fail to receive adequate medical or psychosocial care. The shortage of available treatments, unaffordable highly expensive drugs and failure to provide timely psychological help seriously affect the quality of life of RD patients and their families, often leaving them to fend for themselves.
The hearing brought together EESC members, representatives of the Commission, government and health officials, patients' organisations and social partners with the goal of collecting input for the opinion that the EESC is preparing on the topic.
It offered views on RDs from three different perspectives: from patients' associations and networks supporting the life of the patient, from the political level and from health professionals. As the rapporteur for the opinion, Alain Coheur, emphasised while opening the discussion EU policy to date has focused on exchange of information and good practices in the medical field; to achieve real solidarity we need to discuss access and affordability of treatments.
Rare diseases may be rare, but patients are many, said Dorica Dan, President of the Romanian Prader Willi Association and of the Romanian National Alliance for Rare Diseases. In Romania alone, one million people have some form of rare disease, amounting to some 20% of the population if you include their families.
The problems faced by patients are huge, ranging from inadequate care infrastructure, delay in access to treatments, poor diagnosis and premature death. The waiting time to receive a diagnosis can be longer than five years, and 40% of patients have been misdiagnosed at least once.
Building an efficient, integrated care system for patients living with rare diseases in Europe takes a lot of effort, time and solidarity, Ms Dan said, adding that care received in different countries varies hugely, with smaller countries or countries in Eastern Europe lagging behind others such as Germany. People living in rural or disadvantaged areas are in a particularly hard situation.
We are supposed to have the same rights, but we live different realities, Ms Dan stressed. She said that thanks to the efforts of patients' organisations and EU action, in Romania things are slowly changing for the better. Projects are underway to include more diseases in neonatal screening and to update the list of innovative treatments.
However, despite immense improvements made by European legislation, new policies are needed.
According to Simone Boselli, Public Affairs Director for EURORDIS, only 6% of all rare diseases have a dedicated treatment. Mr Boselii feels that current policies are not keeping up with developments: Currently, there is no overarching strategy for rare diseases.
EURORDIS therefore recommended setting up a new European Policy Frameworkdriven by the needs of people living with a rare disease, to guide the implementation of consistent national plans and strategies.
Importance of data
Another hurdle is the lack of relevant data. As 89.1% of RDs have a prevalence of less than 1 per 100 000, with 53% of RDs being very rare, no country can reach the critical mass data necessary to build knowledge - hence the importance of cooperation at EU and global level.
Improved rare disease codification has been a European priority since the 2009 Council recommendation. It is essential for making RDs visible, said Sylvie Maiella, International coordinator for INSERM (FR), National Institute of Health and Medical Research & Coordinator of the global Orphanet network.
Orphanet is a portal for information and knowledge on RDs, which includes an encyclopaedia and an expert resources database. Supported by grants from the European Commission, it has gradually grown to a consortium of 40 countries within Europe and throughout the world. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), the only codification system to cover all known RDs, which assigns a specific code to each of them.
Another top priority of European health policy is the creation of a European Health Data Space (EHDS).
Irene Kesisoglou from the Belgian Sciensano institute presented the EHDS for secondary use, a pilot project aimed at providing a test case for rare disease data access across Europe. It might explore data strategies to increase findability and comparability of data for selected RDs with the purpose of comparing healthcare pathways in EU Member States.
Joining forces to pool knowledge
The second panel looked at RDs from the political perspective.
Stressing that an RD strategy is among the priorities of the Czech presidency, Jakub Dvořáček, Czech Deputy Minister for Health, said that We are striving to achieve a coordinated strategy for RDs that better addresses current unmet needs by setting meaningful goals for patients, families and for society at large integrated at national and regional levels.
Martin Dorazil from theEuropean Commission spoke about the future of the European reference networks (ERNs) which virtually connect highly specialised expert centres across the EU and whose main objective is to pool the expertise that is currently scattered due to low prevalence or complexity of rare diseases.
However, they need to be better integrated into national health systems so as to make their expertise accessible for patients and healthcare professionals at regional and local level.
Prof. Dr. Ildikó Horváth , former Secretary of State for Health in Hungary, stressed the need to encourage more EU-wide research collaboration and strengthen clinical trial network and clinical centre collaborations. Ensuring equity for countries is paramount.
Orphan drugs - costing a fortune with little justification
Apart from the lack of proper treatments, one of the biggest obstacles to providing adequate care for RD patients is the exorbitant price of many medicines and treatments.
Dr Monica Povedano, Head of the Department of Neurophysiology and Professor for the postgraduate course on EMG and neuromuscular disorders at the University of Barcelona, stressed the importance of having genetic screening for RD patients as early as possible, as this allows for timely or even preventive treatment and genetic counselling.
Moreover, problems with the affordability and availability of necessary medicines are manifold. New orphan drugs need to be approved by the EMA and other regulatory agencies in different Member States, which means that the situation varies from one country to another. In addition, the pharmaceutical industry is not necessarily interested in investing in new orphan medicines. However, not all orphan drugs are new and costly to develop.
As a last resort, patients in Belgium can make use of a Special Solidarity Fund, presented at the hearing by Bert Winnen, President of the Board of Chief Doctors at the National Sickness Insurance and Invalidity Institute (INAMI).
To obtain intervention from the Fund, which has an annual budget of EUR 8 billion, the patient must prove that all other means of intervention or possibilities for funding have been exhausted, crowdfunding included. The treatment must be of vital importance and have passed the experimental stage.
The fund often receives applications for off label medicines and the amounts it is called to cover are sometimes very significant, ranging from EUR 250 to EUR 22 million, as orphan medicines often fall outside the scope of the normal reimbursement systems.
According to Anne Hendrickx from Solidaris, such high prices set by pharmaceutical companies often have no justification. Since R&D for orphan drugs requires fewer patients, they are much cheaper, with their production costs amounting to only 23.4% of the costs required for the production of their non-orphan counterparts. At the same time, they remain among top selling drugs worldwide: in 2015, their global sales ranged from USD 5.2 billion to USD 14.1 billion.
Ms Hendrickx presented a fair price calculator, developed by the Association for Mutual Benefit Societies (AIM), which takes into account several factors, such as the number of patients, overhead costs, sales and profit to calculate a European fair price of a drug or treatment. According to the model, the fair price for Spinraza, a drug needed to treat spinal muscular atrophy, is around EUR 10 000. In Belgium, it costs around EUR 270 000, making it 27 times more costly.
We should all come together to try to restore the balance between the industry and the interest of the people, she concluded.