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Rare Disease Research: European Reference Networks Are Off To a Good Start

One year on from their launch, the European reference networks are helping patients access treatment and research from across the EU, writes Vytenis Andriukaitis.

Elisa, from Alessandria in Italy, suffers from osteogenesis imperfecta. This rare genetic disease causes brittle bones and affects one in 15,000 people. 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 the European reference networks (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 that are being diagnosed, to try and improve their quality of life”, she said.

Too often as a medical doctor I have been witness to tragic stories from patients with rare or complex diseases. Having been diagnosed young, Elisa is luckier than most. Many patients are left in the dark for years, unable to find an accurate diagnosis let alone appropriate treatment. It is also a frustrating situation for doctors, who seek the best possible results for their patients.

The nature of rare and complex diseases is such that specialist knowledge is scarce and fragmented and therefore may be unavailable in the patient’s region or country. However, this same feature makes work on rare diseases an area of enormous EU-added value: leveraging the EU’s vast pool of knowledge and expertise by connecting our assets through ERNs can bring concrete benefits to many thousands of patients.

On 1 March 2017, the ERNs – virtual networks bringing together healthcare providers across Europe to tackle complex or rare medical conditions, were established. There are now 24 thematic

ERNs up and running, with over 900 highly specialised healthcare units from 25 EU countries and Norway working together on a wide range of issues, ranging from bone disorders to haematological diseases, from paediatric cancers to immunodeficiency. One year on from their launch, ERNs are now treating more than 50 patients.

Under this initiative, the first contact for a patient with a rare disease or undiagnosed symptoms is his or her own healthcare provider. Assuming the patient consents, they can seek the advice of an ERN.

To review a patient’s diagnosis and treatment, medical specialists across different disciplines consult, exchange information and share knowledge, often by convening cross-border advisory boards to discuss a patient’s file. This way it is the medical knowledge that travels, meaning there is no need for patients to undertake exhausting trips between regions and countries as was often the case in the past.

The Commission has developed a dedicated IT platform for ERN consultations to run smoothly. These became operational in November 2017. Since then, dozens of patients have started to have their medical files discussed within and across a number of ERNs.

For example, a young Austrian girl with a rare neurological condition and a French woman with a rare blood disease both are seeking a concrete diagnosis after years of not knowing.

Meanwhile patients from France, Germany and the United Kingdom with rare forms of cancers are being advised on the best possible treatment.

These are just a few examples of how patients from across the EU are already benefitting from the ERNs’ advice on diagnosis and treatment.

We are off to a good start, and in the coming year I would expect the ERNs to benefit hundreds, if not thousands, of patients.

In the longer term, I hope to see the ERN model extended to other diseases. I am positive that as we reach a critical mass of patients being analysed, diagnosed and treated, the ERNs will generate more and more research on rare diseases, improving the quality of life of children – as Elisa wishes for – and adults alike.

Read the Press Release issued by The Parliament Magazine


Christmas Message from Professor Helen Cross

Dear EpiCARE members,

As we come to the end of 2017, I want to thank you all for your hard work and contributions as we move forward in establishing our network EpiCARE.

We are now almost at the end of the first year. Gradually aspects of the network are beginning to gel although a slow process.

As a network, this year we have established regular, virtual epilepsy surgery case discussions and steering group meetings, made consensus on the initial EpiCARE database format, launched a website and various social media channels to communicate better what we do.

With the Clinical Patient Management system in place, our focus for the New Year will be to develop cross-country referral pathways and registries as well as continuing with case discussions.

As approved centres, you are being asked to participate in many data collecting exercises. This is our first step to determining current practice.

It is important we continue to work together, and participating centres are seen to contribute in order to make this shared endeavour a success. We rely on your continuous input, your creativity and dedication, which has brought us to where we are today.

As we go into 2018, we plan for our first annual meeting and the first annual report requested participation is likely to increase. It is key we work together to move toward best practice for our patients with rare and complex epilepsies.

I look forward to a successful and productive 2018.

Happy Holidays!

Professor J Helen Cross OBE
The Prince of Wales’s Chair of Childhood Epilepsy
Head of Programme, Developmental Neurosciences

Clinical Patient Management System (CPMS) is live from 12pm CET 20th November 2017 – UPDATED 19/01/2018

The Clinical Patient Management System (CPMS) is one of the three digital tools commissioned by the European Commission besides the ERN Collaborative Platform and the ERN Public Website.

The Clinical Patient Management System (CPMS) aims at supporting the work of the European reference networks in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe.

The CPMS is a secure web based application that enables health professionals to enrol patients using comprehensive but pseudonymised patient data. Health professionals can use the CPMS to collaborate actively, upload and share clinical data, including medical imagery, after having confirmed and recorded the patients’ consent within and across ERNs.

CPMS facilitates the interaction between clinicians. Virtual case discussions will enable cross-country consultation on rare diseases with the hope of arriving at clinical conclusions on diagnosis and treatment collaboratively by sharing clinical expertise.

After months long development process the Clinical Patient Management System (CPMS) goes live on 12pm CET 20th November 2017. The CPMS pilot phase will close at the end of February 2018. During the next three months reference networks are invited to enrol at least five patients and use the website for collaborative diagnostic and therapeutic work.

The CMPS website can be found here  and is only accessible by clinicians of the approved healthcare providers within the EpiCARE European Reference Network. The following video explains how CPMS works:

Release of the latest version of the ERN Clinical Patient Management System (CPMS) application – Version 2

DG SANTE released Version 2 of the Clinical Patient Management System on the 18th January 2018. The new release contains hot-fixes, compatibility with mobile devices, enhanced video-conferencing testing, a HPO code picker and other improvements, see summary detail of this release, much of which is based on your feedback, below this email.

List of the enhancement in CPMS Version 2

  • From the Panel Timeline and in the Meeting Page in the ERN Application: a feature has been developed for users to test the video settings as Test Call for trial purposes.
  • Without a login test the video at https://cpms-training.ern-net.eu/video-testing
  • Access recorded meetings from the Panel Timeline
  • ERN Databases Application should show data per each individual ERN
  • Re-designed the interface primarily driven by how it would look on Tablet/small screens, which included making the header the primary dark blue
  • Changed the style of the side menu so that it looks more like tabs, is more icon driven and takes up less horizontal space
  • Changed the context banner so that it doesn’t sit visibly ‘apart’ (has no visible margin) from the rest of the interface
  • Changed the layout of the Tabs on the Meetings and Webinar pages
  • Added CSS so that the interface responded to different screen sizes – changing the size of the content displayed and the layout so as to create a better user experience at those smaller sizes
  • Changed to css on the Panel Progress tracker so as to make it resize and re-position on smaller screen sizes
  • Worked on the layout of the Panel form and Timeline so that they better resize and at smaller screen sizes
  • Revert to using Tabs to navigate one or the other, as it would be impractical to display both at the same time
  • Tested the CPMS system at a range of different browser sizes to see that the system was usable at those sizes
  • Tested the CPMS system on a number of different devices to see that the system was usable on those devices
  • Improve the signalling of primary and expected actions through the use of button colour, size and use of iconography
  • Cleaned up the styles, consistency for buttons, standardization of close, cancel, submission, save buttons over the application where ‘action’ buttons are primary or secondary, or ‘destructive’ – cancel or close.
  • Browse HPO classification in a hierarchical structure, so that I can pick the phenotype abnormality more precisely across different levels
  • Update Osimis Viewer plug-ins in CPMS in line with the latest release of Osimis viewer
  • On menu of form sections, Panel Outcome should be at the bottom
  • Re-code the ERN names in the CPMS application database
  • Pop up message for closing a panel
  • All free-text fields in the form below the consultation request section should be expand-to fit
  • Update consent forms: Add Latvian and Norwegian and update the Dutch
  • Exclude picking same thematic area in the 1ry and 2ry fields in the consultation request section

Patients and clinicians are reaping the benefits of European cooperation on rare and complex epilepsies | Professor Helen Cross

Specialist healthcare providers in the UK are part of a Europe-wide network which aims to improve the understanding and management of rare and complex epilepsies. If UK participation is discontinued following Brexit, patients and clinicians on both sides will be denied access to leading expertise and cutting-edge new treatments – with likely poorer outcomes.

Epilepsy is a condition where an individual is prone to recurrent epileptic seizures. There are many different causes. Two-thirds of individuals with epilepsy respond to first-line medication (antiepileptic drugs) or enter into spontaneous remission with time. But a third continue with seizures despite existing treatments.

Advances in structural brain imaging, as well as genetic and metabolic diagnostics, have determined an increasing number of causes, resulting in the description of more than 130 rare diseases.

With an understanding of cause, treatments can be more targeted. The relative prevalence of each disease means a coordinated approach is required across key centres of expertise at an international level.

EpiCARE, a European Reference Network, aims to improve the understanding and management of these rare and complex epilepsies through the use of e-tools and expert discussion. This enables complex diagnostic and therapeutic interventions in a wider number of patients across Europe.

It is currently a network of 28 centres across 13 countries, which fulfil proposed operational criteria and have all received endorsement as specialist healthcare providers within their member state. There is also active participation of individuals representing disease specific organisations.

Should the participation of UK centres not be possible following Brexit, patients with rare and complex epilepsies in the UK will be denied access to European expertise and participation in the development of new treatments, with likely poorer outcomes.

This cannot be done at country level, in view of the rarity of the diseases. The UK leads on a number of aspects of epilepsy patient diagnostics and novel treatments, but trialling of such can only be done through the use of multiple centres at European level.

How it works

EpiCARE is an extension of the pilot European Reference Network e-pilepsy, a network developed to increase awareness and availability of epilepsy surgery across Europe. This network continues as the surgical treatment arm of EpiCARE.

The objectives are:

1. To improve accessibility of detailed diagnostics to individuals of all ages with rare and complex epilepsies across Europe, including clinical evaluation and investigation.
2. To develop treatment protocols and monitor standardised outcomes of rare and complex epilepsies.
3. To improve awareness and accessibility to protocols for physicians and individuals with rare and complex epilepsies across Europe for treatment.
4. To enhance educational activities and training opportunities by interchange across the network.
5. To enhance opportunities for registries and collaborative research for the benefit of individuals with rare and complex epilepsies across Europe.

We are doing this through the development of a series of vertical and horizontal work packages. We aim to improve access and understanding through online tools to improve laboratory diagnostics, brain imaging, neurophysiology, neuropsychology and neuropathology evaluation for this group if diseases.

We will also enhance therapeutics through consideration of novel therapies, continuation of the e-pilepsy network, a neonatal seizure network and dietary therapies. Underpinning this, there will be ongoing case discussion through an online platform, for which a clear care pathway for referral is being developed.

Access to new treatments

Such a network will give patients access to new treatments as they develop. An example is seen in Dravet syndrome, a rare early onset epilepsy (prevalence 0.4/10000) with poor prognosis for seizure control and neurodevelopmental outcome.

A European registry has been initiated and new cohort-relevant outcomes measures developed. Trials of new treatments have been completed, but the registry will enable knowledge of the positioning of these patients around Europe, and give them access to participate in natural history and outcome studies.

EpiCARE is currently led and coordinated by Great Ormond Street Hospital, with the participation of a further three UK centres (National Hospital for Neurology and Neurosurgery Queen Square, Oxford, and Glasgow).

Professor Helen Cross is the Prince of Wales’s chair of childhood epilepsy, coordinator of EpiCARE and head of developmental neurosciences Unit at the UCL Great Ormond Street Institute of Child Health.  

Find out more

The Brexit Health Alliance has warned that patients could suffer if a ‘worst case scenario’ Brexit ended healthcare arrangements between the UK and EU. The alliance is calling on Brexit negotiators on both sides to take steps to ensure this does not happen.

Discover more in the Brexit Health Alliance’s new briefing Maintaining reciprocal healthcare for patients after Brexit.

Join the conversation on Twitter #BrexitHealthAliance

The European Reference Networks Launch

The European Reference Networks were officially launched in Vilnius on 8/9 March 2017.

The ERN EpiCARE held its inaugural launch meeting on 3rd June 2017 in London.