Tag Archives: EU

Rare diseases are an example of the need for more Europe today

After the impact on Europe of the US financial crisis two years ago, the EU is now shaken by a new crisis, a crisis of the Euro spurred by the public deficit of Member states. The future of EU is at stake, at least in its vision as a political space for peace, economic growth and quality of life. The answer is not less Europe, the answer is more Europe!

No European policy is possible without a simple, clear strategy, accepted by most interest parties, and with adequate governance. This is what the EU has provided for its most successful policies such as on energy and common markets. And this is what we have now for rare diseases.

We have a clear strategy and objectives spelled out in several policies and legislations. We have the support of the European Commission, the European Council and the European Parliament. We have governing bodies within the EC, with the EU Committee of Experts on Rare Diseases (EUCERD) and at the European Medicines Agency (EMA), with the Committee on Orphan Medicinal Products (COMP). We have international ambition with the International Consortium on Rare Disease Research.

We have structured our action around civil society – with EURORDIS- and around quality medical information – with ORPHANET. In the coming years we will have structured European Reference Networks of Rare Diseases gathering experts, centres and diagnostic labs, and we will have EU wide infrastructures for clinical trials, biological resources and registries.

Our common challenge is now to agree on common good practices and to monitor our achievements. To achieve these goals, we need continued political support – which we can contribute to stimulate through awareness and advocacy – and more resources, which means more budget for the 2014-2020 EU Programmes, in particular for research and public health.

Concrete and worthwhile actions speak to EU citizens. Actions in the field of rare diseases are an example of the need and the usefulness of more Europe today!

The Commission's Decision to create the EU Committee of Experts on Rare Diseases should be published between Mid and End November 2009.

The creation of this Committee is one of the well expected concrete implementing measures of the adoption of the Commission Communication on Rare Diseases in November 2008. The publication of the decision was already expected since July 2009, however other priorities like the EU strategy to address the challenges of the H1N1 flu epidemic has postponed it to the Fall. The Decision has been adopted internally and is now being translated in the 22 languages. When the translation will be completed, the official publication will be possible.

The EU Committee of Experts on Rare Diseases (CERD) will be composed of 51 members. The Committee will be composed of 1 representative from each 27 Member States appointed by their governments and 25 representatives appointed by the Commission: 4 patient representatives, 4 industry representatives, 9 experts representatives of projects funded by DG SanCo including representatives of the European Reference Networks, 6 experts representatives of projects funded by DG Research, 1 representative from the European Centre for Disease Control. All 51 members will have alternates. As soon as the Decision will be published, a Call for Expression of Interest will be issued by the Commission to appoint the the representatives to be appointed by the Commission.

The first meeting of the EU Committee of Experts on Rare Diseases (CERD) is foreseen for End February 2010 / Early March 2010, around Rare Disease Day, in Brussels.

Related link: European Commission Communication on Rare Disease

People living with rare diseases ask for plans, or national strategies, in 25 European countries.


Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis.  Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: “nothing can be done”.

EurordisCare studies* show that diagnosis alone considerably improves quality of life  and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine.

No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.

National plans

How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden…Everywhere, patients and their associations are playing a key role throughout the process.

What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.

*Eurordiscare studies : “The voice of 12,000 patients”, www.eurordis.org

Rare diseases at the forefront to address the healthcare challenges of the future

Personalized Medicine

The European Union and its Member States are faced with the challenge of an emerging field in medicine: personalised medicine. Therapeutic interventions, and in particular medicinal products, are increasingly intended for well targeted and smaller patient populations.

These interventions are usually intended for the prevention, diagnosis, treatment, cure or long term management of severe, debilitating, life-threatening diseases. They are using high value innovations, made possible thanks to the progress of medical research such as: pharmacology, gene therapy, cell therapy, tissue engineering, gene testing and other sophisticated diagnostic tools, including medical imaging and high-tech medical devices. Bringing these innovations to patients, as well as guaranteeing the best possible care and medical practices, while optimising the use of healthcare resources, requires both a higher concentration of expertise and an increased collaboration at the EU level.

This challenge is one more reason for policy makers at Member States level as well as at European level to make rare diseases an always higher priority in the EU 8th Research Framework Programme and the 3rd EU Health Policy Programme, both covering the period 2014-2020. Rare diseases are the laboratory to prepare the future of healthcare. Rare diseases are already at the forefront to help shape the future of healthcare.

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