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Home » EU Health, Health, Rare Diseases

EU action against rare diseases

Submitted by on 14 Sep 2018 – 16:21

Though individual rare diseases (RDs) affect less than five in every 10,000 people, the aggregate number of individuals suffering from a rare disease is estimated to be nearly 400 million worldwide. The lack of efficient treatment, accurate and timely diagnosis and inequality of access to orphan drugs are clearly the main reasons behind the enormous burden. European Commissioner for Health and Food Safety, Vytenis Andriukaitis, offers renewed hope to patients with rare diseases

On March 1st 2017, the European Reference Networks (ERNs) — virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions — kicked off. Twenty-four thematic ERNs are functioning currently, with over 900 highly specialised healthcare units from 25 EU countries and Norway working together on an array of issues ranging from bone disorders to haematological diseases and from paediatric cancer to immunodeficiency. More than a year after the launch of the initiative in the university hospital in Leuven, Belgium, Vytenis Andriukaitis, European Commissioner for Health and Food Safety, tells us how ERNs are helping patients and outlines his hopes for the years ahead.

Elisa from Alessandria in Italy suffers from osteogenesis imperfecta (OI), also known as brittle bone disease. OI is a rare condition and it is estimated that the number of people born with the condition is approximately one in every 15,000. Elisa, aged 30, was diagnosed with the disease as a small child. “I couldn’t play like other children,” she recalled, “because if I fell, I would break something.” A year ago, when ERNs were just about to begin their work, we asked Elisa what she was expecting from them. “More research, for the people, for the children who are being diagnosed, to try and improve their quality of life,” she said.

As a medical doctor, I have often witnessed tragic stories of patients with rare or complex diseases. Having been diagnosed young, Elisa is luckier than most. Most patients with rare diseases are often left in the dark for several years without an accurate diagnosis, let alone appropriate treatment. It is also quite frustrating for doctors hunting for “zebras”.

Such is the nature of rare and complex diseases that specialist knowledge is scarce and fragmented and, therefore, often unavailable in the patient’s region or country.

Yet to deal with this complexity of rare diseases, we connect our knowledge and expertise through ERNs to bring concrete benefits to thousands of patients.

A year since their launch, these ERNs are treating more than 50 patients with rare diseases. For instance, Adam from Colchester* is a 12-year-old who suffers from neurological and muscular problems. His doctors are unable to pinpoint the symptoms to a specific disease. He has seen countless specialists who are treating him as best as they can, but they need to know what exactly is wrong in Adam’s body in order to find optimal treatment. Adam’s doctors are currently consulting with medical staff from as many as five EU countries through the ERNs and are already a step further towards diagnosing his illness.

To review a patient’s diagnosis and treatment, medical specialists across different disciplines and from across the EU consult one another, exchange information and share knowledge, often by convening cross-border advisory boards —made possible by a special IT platform developed by the Commission — to discuss a patient’s file. This way, it is the medical knowledge that travels, and there is no need for patients to undertake exhausting trips between regions and countries, as in the past.

Adam is not the only patient benefiting from the cross-border expertise offered by ERNs. Patients from many other EU countries — including other young children — who suffer from very rare neurological disorders, cancers, blood and other disorders, are having their cases reviewed, and some have already received a proper diagnosis and treatment advice.

With Adam and dozens of other rare disease patients who now have renewed hope, the ERNs are off to a good start. In the coming year, I expect the ERNs to help hundreds if not thousands of patients. In the longer term, I hope to see the ERN model extended to other diseases. As we reach a critical mass of patients who are diagnosed and treated, ERNs will boost research through large clinical studies and contribute to the sustainability of national healthcare systems. I am confident that ERNs will help improve the quality of life for many patients in the EU suffering from rare and complex diseases and conditions, children and adults alike.

*Identifying details, including the name, age, and in some cases the country, have been changed to respect the patients’ privacy