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EpiCARE News and Events

All Party Parliamentary Group Meeting On European Reference Networks

On Monday 9 July the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions held a meeting on the effect of Brexit on European Reference Networks (ERNs).

The APPG ran this event following guidance from Genetic Alliance UK. Alongside rare disease medicines regulation and access, and research funding and regulation, ERNs have been identified by Genetic Alliance UK as one of the crucial EU initiatives that may suffer if the UK’s terms for exiting the European Union do not take special account of issues for people affected by rare diseases – with negative consequences for patients and families across the EU.

ERNs connect clinicians and researchers across Europe to allow expertise to be shared across borders, allowing faster access to expert advice, diagnosis and care. The meeting was opened by the APPG co-chair, Stephen Twigg MP, who described the potential of ERNs to transform the care and treatment of rare disease patients across Europe. The group then had the opportunity to hear from a series of expert speakers.

During Clare Moody MEP’s speech she emphasised the need to ensure the UK remains a part of the ERN process going forward, as ERNs offer support, improved diagnosis and opportunities to take part in research. Ms Moody noted that both patients in the UK and the EU benefit from the UK’s participation in ERNs due to the UK’s vast amount of expertise. However, she explained that there has not been enough conversation about these topics within Brexit negotiations and that these need to be brought to the forefront.

Our second guest speaker, Professor Helen Cross, outlined the need for a targeted approach to rare and complex epilepsies, and how ERNs allow this. Professor Cross highlighted some of the ways EpiCARE, the ERN for rare and complex epilepsies, has been successful in producing registries and faster access to new technologies online. She stated that these collaborative opportunities have offered a unique opportunity for patients. However, there is still room for wider access to expertise and clinical trials, and this needs to continue following the UK’s exit from the European Union.

Louise James offered the perspective of a parent of a child with an undiagnosed condition. Her son, Scott, has participated in research studies such as Deciphering Developmental Disorders and the 100,000 Genomes Project. She highlighted the importance of her son’s health data, in addition to the data of children from all over Europe in developing medicines and identifying new conditions. Louise showed how research, expertise, and knowledge within ERNs are key to helping families such as Louise’s.

The next guest speaker, Avril Daly, offered the perspective of a rare disease patient and leading rare disease advocate. She described the potential of ERNs to revolutionise the way in which healthcare and research is delivered for rare disease patients. By pooling expertise and research, ERNs have the opportunity to achieve more for patients. She called for a Brexit that puts patients, their safety, and public health first.

During his speech Professor Maurizio Scarpa discussed how ERNs are an ambitious example of collaboration that have led to better understanding of rare diseases and their causes. Professor Scarpa stated that the UK must be enabled to collaborate in ERNs, if we are to remain faithful to patients who should be at the heart of all decisions. This was further highlighted by Professor Márta Korbonits who discussed the way in which being able to communicate with hundreds of clinicians in a timely manner has helped to diagnose patients and to treat them effectively.

The final speaker for the day, Senator Neale Richmond, warned that healthcare, and the future of ERNs, are not being discussed in Brexit negotiations but are of vital importance. He added that this is crucial to ensure that children, in Ireland, and across Europe are able to receive the best treatment that ERNs afford.

NEXT STEPS

Following the APPG on Rare, Genetic and Undiagnosed Conditions meeting, Genetic Alliance UK, the Secretariat to the APPG, has agreed to develop a statement from the findings of the event. The European rare disease community will have the opportunity to support the statement which will be presented to the UK Government and European Commission.

If you would like to see the live tweets from the event, a Twitter moment of the meeting can be found here.

Our full list of speakers at this event:

  • Stephen Twigg MP
  • Clare Moody MEP
  • Professor Helen Cross, Head of Neurosciences Unit at University College London, coordinator for EpiCARE, the European Reference Network for Rare and Complex Epilepsies
  • Louise James, Parent Representative, SWAN UK
  • Avril Daly, Vice-President of Eurordis, CEO of Retina International
  • Professor Maurizio Scarpa, Director of the Centre for Rare Diseases Helios Dr Horst Schmidt Kliniken, Coordinator of the European Reference Network on Hereditary Metabolic Diseases
  • Professor Márta Korbonits, Professor of Endocrinology at Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Scientific Programmed Chair of the European Society of Endocrinology, representative of BioMed Alliance
  • Senator Neale Richmond, Fine Gael Spokesperson on European Affairs in the Seanad Éireann

The original article can be can be viewed here.

*Photo Credit: Josh Tucker/Genetic Alliance UK.

 

SCORE is accessible to EpiCARE ERN members

The SCORE cloud for EpiCARE is now accessible to all EpiCARE ERN members.

SCORE stands for Standardized Computer-based Organized Reporting of EEG. SCORE is a computer based system for EEG reporting and classification, where the physician can construct the report based on predefined terms and elements for each EEG feature as well as clinical phenomena.

The electroencephalography (EEG) signal has a high complexity, and the process of extracting clinically relevant features has traditionally been achieved by visual inspection of the recordings and reports designed in free text format, which may lead misinterpretations and does not allow statistical comparisons. For this reason IFCN (International Federation of Clinical Neurophysiology) established a SCORE taskforce with the support of ILAE (International League Against Epilepsy) aimed to standardise EEG reporting.

A cloud version of SCORE has been developed for EpiCARE. This platform will be used for projects related to EEGs, including inter-rater agreement studies, and systematic extraction of EEG features in patients with rare conditions. In addition, an interactive, web-based educational tool will be developed using SCORE.

You can download the guide document from here with information about the SCORE system and the instructions on how to register and log in.

You can find videos and webinars on how to use SCORE by visiting the Holberg EEG YouTube channel.

To view the guidelines for EEG: SCORE, please click here.

First Patients Enrolled in CPMS for EpiCARE

EpiCARE is delighted to report that on the 26th March 2018, on Purple Day for Epilepsy, we enrolled our first three patients in the Clinical Patient Management System (CPMS). All patients are from Great Ormond Street Hospital for Children, London. On the same day we also launched our first panel and the first virtual meeting was held in CPMS with five clinicians participating from all across Europe.

The CPMS is a secure web-based application, developed by OpenApp in collaboration the European Commission (DG SANTE), which is used to support the European Reference Networks in the diagnosis and treatment of rare or low prevalence complex diseases or conditions across national borders.

At the moment EpiCARE is piloting the CPMS system to ensure that it is equipped with the technical requirements necessary for epilepsy diagnostic work, such uploading a video EEG file or utilising the screen share option during meetings.

We look forward to utilising CPMS in the diagnostic and therapeutic work for both for surgical and non-surgical cases over the coming months so that these virtual cross-border consultations between experts can lead to the improved diagnosis and treatment of all rare and complex epilepsy patients across Europe.

To watch an introductory video of the CPMS and how the panels work, click here

To access the CPMS click here

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.