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EpiCARE News and Events

LAUNCH of the call for new members to join existing ERNs on the 30th September 2019

We are pleased to inform you that the call for new members to join existing ERNs is going to be open on the 30 of September 2019 until 30 of November 2019.

You will find more information on the call and access to all relevant documents in the following website: https://ec.europa.eu/health/ern/consultations/2019_call_membership_en

The application tool will be activated on the 30 of September at 12.00 pm (CET).

The role of the ERN Coordinators at this stage of the process is to provide to the Applicants that might contact them any clarification on the scope, organisation and goals of each Network. For that, we provided on the website the list of the contact details with the functional mailbox of the Networks (these Networks that are pending to provide their functional mailbox please send it to us as soon as possible). 

The role of the Member State (MS) at this stage of the process is to provide a written statement of endorsement for the Healthcare Provider certifying that its participation in the European Reference Network (ERN) is in accordance with its national legislation. The MS is responsible for defining its national process to support eligible Healthcare Providers and ensuring that this process is transparent.

Please be reminded that the launch of the call (30 of September) also marks the end of the designation period for Affiliated Partners, as agreed with the Board.

Report on the First 3 Years Cycle (2017-2019) of Epiped-Treatment Course

EPIPED COURSE on Treatment Strategies in Paediatric Epilepsies is an educational activity of the European Reference Network EpiCARE in partnership with the Paediatric Epilepsy Department of the University Hospitals of Lyon, France (HCL) and the Sant Joan de Déu, Barcelona, Spain, Research Foundation (FSJD).

The report below highlights the findings of the first 3 years of the educational cycle (2017-2019) on Treatment of Paediatric Epilepsies, co-organized by EpiCARE.

Please click here to view the report.

1st International Symposium on Genetic Syndromes with Movement Disorders and Epilepsy

We have the pleasure to inform you that the 1st International Symposium on Genetic Syndromes with Movement Disorders and Epilepsy will be held in Barcelona, Spain on February 6-7, 2020. This first edition is organized in the continuity of the International Symposium on Child Movement Disorders, which gathered every other year more than 300 professionals from 30 different countries since 2004. The best-qualified experts involved in pediatric movement disorders took part in this biannual meeting.

The main topics proposed for the 2020 meeting include:

  • Co-occurrence of Movement Disorders and Epilepsy: an historical overview;
  • The hunting of causative genes;
  • Basic cellular mechanisms involved in movement disorders and epilepsy;
  • Pathways involved in the co-occurrence of movement disorders and epilepsy;
  • Disorders related to: GNAO1; ATP1A3; SCN1A; FOXG1; TBC1D24; Other;
  • Principles of current and future management: medical treatments of the epilepsies, the movement disorders; deep brain stimulation; Gene therapy and other innovative treatments

We remain at your disposal for any further information you might like.

Best regards,

The organizing committee
Alexis Arzimanoglou (France), Jaume Campistol (Spain), Emilio Fernandez-Alvarez (Spain), Renzo Guerrini (Italy), Nardo Nardocci (Italy)

For further information relating to the symposium and to register, please click here.

Allison

How EpiCARE makes a difference for those with rare and complex epilepsies – ePAG Co-Chair shares her view with Genetic Alliance UK

Allison Watson, Co-Founder of Ring20 Research and Support UK CIO and Co-Chair of EpiCARE’s patient advisory group (ePAG) wrote on the benefits of European Reference Networks (ERNs) provide for rare disease patients across Europe. Her article was published on the Genetic Alliance UK’s blog. Genetic Alliance UK is national charity working to improve the lives of all those affected by genetic conditions that runs the #ProtectERNs campaign.

Allison Watson, Co-Founder of Ring20 Research and Support UK CIO and Co-Chair of ePAG for EpiCARE

There are currently 13 patient advocates within the Rare and Complex Epilepsies (EpiCARE) European Patient Advisory Group (EPAG), representing many different patient organisations across the UK, Italy, Spain, France, Finland, Czech Republic, Netherlands, Belgium and Germany.

For some with the rarest of diseases, the support from a patient group to connect with other families does not even exist. European Reference Networks (ERN)’s were born out of a need to address the gap in patient care for rare diseases where the focus and funding has historically been in the more common diseases, but equally we do not want the rarest of diseases left behind.

EpiCARE is one of 24 ERNs but differs from the ERN created for rare neurological diseases (ERN-RND) in that EpiCARE focuses specifically on ‘the epilepsies’. EpiCARE comprises 28 expert centres from across 13 European countries (plus additional affiliated centres) selected for their proven expertise in diagnosing, treating and caring for those with rare and complex epilepsies. As patient advocates we are treated as equal partners in EpiCARE, bringing the patient voice to the table, ensuring ‘Nothing for us, without us!’

The #EUProtects campaign is a great example of how doctors from the UK collaborated with colleagues across the EpiCARE reference network in France and Sweden to help 4 year-old Onni from Finland to receive the surgery he needed to treat his rare epilepsy. You can watch the video here.

ERNs can offer a lifeline for these patients and the healthcare professionals who treat them. Making the connections where it is otherwise impossible, sharing knowledge and helping the undiagnosed find a diagnosis. Recognising these patients enables better understanding of the needs of all with rare disease, not just the more ‘common’ rare diseases and brings a level of equity for improved outcomes for all. Effectively, ERNs are collaborating to ‘leave no-one behind’.

Why is there a need for an ERN for epilepsy? Isn’t this the most common neurological condition?

Epilepsy is not a disease; it is a term to describe the symptoms experienced by those affected by seizures – of which there are over 40 different types. The causes of epilepsy can be many, including genetic or metabolic disorders, head injuries and illness. Around two thirds of patients have their seizures controlled effectively by medication or other treatment and many children may grow out of their epilepsy. However, for the remaining third the seizures do not respond to medication, patients are susceptible to a multitude of side effects from ineffective medication, and importantly many experience additional problems (comorbidities) such as cognitive decline, behaviour issues and loss of function such as the ability to walk, talk or feed. These individuals may have a specific underlying root cause for their condition – one of 130+ rare diseases known as ‘the epilepsies’.

So, if ‘the epilepsies’ are rare diseases, why do we need an ERN?

Just like the 6,000+ other rare diseases, knowledge and information on how to diagnose, treat and care for patients with ‘the epilepsies’ is lacking, and patient outcomes are often poor. Uncontrolled seizures adversely impact quality of life and at worst can be life-limiting. There is a need to improve awareness and education across Europe and the world about ‘the epilepsies’. Patients affected by a rare disease may find they are the only patient that their healthcare professional will ever treat in their lifetime and even the most ‘expert’ centres within their own country may have limited, if any, experience in the disease. This is where ERNs can provide a huge benefit, enabling a consultant to virtually connect with experts from within the EpiCARE network where the answers to questions may be found and outcomes may be improved. The aim is for treatment on a trial and error basis to eventually be eradicated. ERN centres will raise awareness, provide training and share information to educate local healthcare providers within their own countries, spreading knowledge. This means information travels, not the patient.

Within EpiCARE there are 16 Work Packages (WP) delineated by areas of discovery, rather than focusing on each rare disease separately (as in many other ERNs). WPs target areas such as improving diagnostics, creating a central patient registry, seeking targeted medical therapies, updating/creating clinical guidelines, as well as improvements to testing techniques. Cutting across all of these are WPs covering education and training, research and clinical trials and dissemination.

The UK has doctors, researchers and scientists with some of the most expertise in Europe, if not the world – but with 6,000+ rare diseases and counting, being an expert in every rare disease is impossible. If you or a loved one are affected by a rare disease you will want the best treatment, the best care and the best outcome – right? But what if that cannot be found within the UK? What if the expertise lies elsewhere in Europe? Equally our fellow Europeans should not be denied access to expertise within the UK. If we all campaign to #ProtectERNs, access to what you need may remain within you and your healthcare professional’s grasp, ensuring ‘borders without boundaries’. Whatever the outcome of Brexit, the human right to optimum healthcare should be protected.

Join us and sign up to #ProtectERNs today!

About Allison Watson

Allison Watson holds a voluntary position as Co-Chair of the European Patient Advocacy Group (ePAG) in the European Reference Network (ERN) for Rare and Complex Epilepsies (EpiCARE). Allison is the Co-Founder of Ring20 Research and Support UK CIO a patient support group based in the UK supporting patients, families and healthcare professionals across the globe who are affected by, or come into contact with, Ring Chromosome 20 Syndrome – or r(20) syndrome for short – an ultra-rare epilepsy syndrome with only 150 cases cited worldwide. Allison advocates for the ultra-rare diseases where basic resources such as clinical practice guidelines, patient registries, effective treatments, research and clinical trials, and prognosis are scarce – if not completely absent.

The original article can be found on the Genetic Alliance UK’s website.

EpiCARE’s 2nd Annual Meeting

EpiCARE held its 2nd Annual Meeting on the 22nd-23rd February 2019 in London at the Holiday Inn Bloomsbury Hotel.

On Friday 22nd February, we had a selection of expert group meetings running parallel for the following groups:

– WP10 – Ketogenic diet expert group meeting
– WP3 -Neuroimaging expert group meeting
– WP4 – Neurophysiology expert group meeting
– WPI – Registry meeting
– WP8 – Epilepsy Surgery (E-pilepsy) expert group meeting
– WP9 – Neonatal seizures expert group meeting
– WP7 – Targeted medical therapies expert group meeting

A CPMS set-up session was arranged for those who did not have an account with our new CPMS Helpdesk coordinator, Arunganesh Velurajah.

The Steering Committee had a joint face-to-face meeting in the evening and from 8pm all participants were invited for dinner.

On day 2, Saturday, 23 February 2019 the Annual EpiCARE continued with a general assembly. The work package leads gave a short update about their projects in the previous year and what they were planning for the year to come. Our patient representatives had a lovely introduction and a talk about how ePAGs can support the work of ERNs.

The assembly discussed the referral pathway, periodic reporting and auditing, also a there was brief CPMS introduction explaining the requirements regarding logging cases. Prof Cross and Prof Alexis Arzimanoglou described the issues around widening the network. They also introduced the new EpiCARE affiliated centres and gave information about the upcoming new ERN call for new centres.

In the afternoon Prof Ryvlin explained how EpiCARE is connected with the Human Brain Project and the benefits of the Medical Informatics Platform, which will be available for all EpiCARE centres.

Prof Guerrini talked about his new initiative to set up an ‘Undiagnosed and rare genetic epilepsies’ working group within EpiCARE as well as setting up a dedicated website for information exchange to aid the project’s work. The dedicated web platform would allow the working group to reach out to larger research initiatives and gather specific cohorts for functional studies and applications for personalised trials (C4C).

After lunch, the assembly discussed issues raised by EpiCARE members, such as the need for guidelines for laser ablation surgery, training courses and clinical trial readiness.

The 2nd Annual EpiCARE meeting was attended by 68 delegates from 25 EpiCARE centres, two new affiliated centres and three further organisations we work with. Five patient organisations were represented through their patient representatives.

You find the official photos of the event on our Facebook page:

You find the detailed program here.

You can download the presentations from Saturday, 23 February 2019 below.

Aicardi Syndrome: from defining the phenotype to unravelling the genotype

The EpiCARE Fondazione Istituto Neurologico Nazionale Casimiro Mondino Centre, Pavia, Italy is at the origine of the creation of an experts group to exchange findings from ongoing research, and to set the basis for a collaborative effort aimed at unravelling the underlying aetiology of this rare and complex form of epilepsy.

A closed Consensus Conference on diagnostic criteria, followed by an open symposium took place in Pavia on Friday and Saturday November 16-17, 2018.

For more information, please click here.

EpiCARE features in the EUProtects campaign

As many as 8,000 rare diseases affect the lives of around 30 million people in the EU every day.

Many of those affected by a rare or complex disease do not have access to diagnosis and high-quality treatment, since no country alone has the knowledge and capacity to treat all rare diseases and conditions.

European Reference Networks (ERNs) are virtual knowledge-sharing networks involving healthcare providers across Europe. These networks give patients and doctors across the EU access to the best expertise, while facilitating the timely exchange of life-saving knowledge, often without the need to travel to another country.

The EpiCARE network brings together 28 highly specialised health centres in 13 European countries, all of whom have expertise in rare and complex forms of epilepsy.

EpiCARE runs regular case discussions that allow clinicians to talk through complex epilepsy cases to see if epilepsy surgery is the best solution for the patient. During case discussions, patients are evaluated to determine whether a single area of the brain is causing seizures, which could be removed without causing further problems, potentially curing the epilepsy.

Last year, EpiCARE took on the case of a 4-year-old Finnish boy with a rare abnormality in the brain, causing him to have between 20-30 seizures each day. This was a very specific disorder of which only a small number of medical centres in the world have experience. A decision therefore had to be made on what kind of treatment to suggest – Gamma Knife® surgery, only available in 2 centres, or surgical resection, only performed in 3-4 centres.

The doctors in Finland presented the case to the network, with 7 other countries present (Italy, UK, France, Spain, Romania, Sweden, and the Netherlands). After reviewing the different treatment options, it was decided that the child should go to Marseille for Gamma Knife surgery®. The surgery was successful, and although the boy still experiences seizures, their number has been drastically reduced.

You fund the EuProtects website here: A second opinion: How EU networks share knowledge to save lives 

About European reference networks

European Reference Networks (ERNs) are unique and innovative cross-border cooperation platforms
that enable specialists to diagnose and treat rare or low prevalence diseases. They aim to provide highly specialised treatment and to concentrate knowledge and resources.

ERNs are being set up under the EU Directive on Patients’ Rights in Healthcare (2011/24/EU), which also makes it easier for patients to access information on healthcare and increase their treatment options.

There are 24 ERNs involving 25 European countries (including Norway) and more than 300 hospitals with over 900 healthcare units covering all major disease groups. These 24 specialised networks are working on a range of medical issues including bone disorders, childhood cancer and immunodeficiency. The ERN initiative receives support from several EU funding programs, including the Health Programme, the Connecting Europe Facility and Horizon 2020.

 

 

 

 

 

International Experts Workshop on Cannabinoids in Epilepsy

The EpiCARE Working package on Education and Training organised near Lyon, France a 2 days workshop on Cannabinoids in epilepsy gathering nearly 30 child and adult neurologists and pharmacologists.

Scientific Committee: A. Arzimanoglou (France), U. Brandl (Deutschland), HJ Cross (UK), A. Gil-Nagel (Spain), L. Lagae (Belgium), C. Landmark (Norway); N. Specchio (Italy); E. Thiele (USA). The proceedings will be published in the educational journal of the ILAE, Epileptic Disorders.

For for details of the CBD workshop and participants, please click here.

AES Clinical Science Research Award goes to Prof Helen Cross

We are delighted to announce that Professor Helen Cross, our ERN Coordinator has been selected as the recipient of the prestigious American Epilepsy Society Clinical Science Research Award! This award is given by the Society to recognise professional excellence and will be presented at the annual meeting in New Orleans in December 2018. Congratulations.

Prestigious ILAE Awards go to EpiCARE leads

The 13th European Congress on Epileptology (ECE 2018) took place in Vienna, Austria on 26-30th August 2018 organised by the International League Against Epilepsy (ILAE).

ILAE Commission on European Affairs received numerous nominations for the European Awards 2018. The nominees were of a very high calibre and much deliberation went into selecting the recipients.

We are delighted to announce that three EpiCARE leads received the prestigious European Epilepsy Award at the Welcome Ceremony of the 13th ECE on Sunday 26th August 2018.

Professor Emilio Perucca – European Epileptology Award

The award is presented to a European epileptologist in recognition of his/her outstanding lifetime contribution to European epileptology.

Emilio Perucca is Professor at the University of Pavia and Director of the Clinical Trial Center of the C. Mondino National Neurological Institute in Pavia. He obtained a Specialization in Neurology at the University of Pavia and a Ph.D. Diploma at the University of London. He trained as a neurologist and clinical pharmacologist at the National Hospital for Nervous Diseases, London. In 1997 he received the ILAE-IBE Ambassador for Epilepsy award. He is currently the immediate Past-President of ILAE. Over the past decades, he has contributed to several advocacy initiatives to improve epilepsy services and funding for epilepsy research in Europe and beyond. His own research activities have focused on the clinical pharmacology of AEDs, the drug treatment of seizure disorders, and clinical trial methodology in epilepsy.  He co-edited several international textbooks and authored over 450 Pubmed-listed publications, with an H-index of 75 and a citation index >20,000.

Prof Emilip Perucca is a member of the EpiCARE Steering Committee and leads the Work Package on Clinical Trials.

Professor Kristina Malmgren – European Epilepsy Education Award

The award is given in recognition of outstanding contribution to the advancement of epilepsy education on a European level.

Kristina Malmgren is professor in neurology and head of the Department of Clinical Neuroscience at Gothenburg University. She leads the comprehensive epilepsy team including the adult epilepsy surgery program at Sahlgrenska University Hospital. Her research interests are in clinical epileptology and epilepsy surgery, especially comprehensive long-term epilepsy surgery outcomes and she has published more than 100 original papers.

Kristina Malmgren has been active in education both at national and international level for decades. She has been teaching epileptology at undergraduate and graduate level, as well as to registrars in neurology, patients, health care personnel and the public. She developed the first Swedish university course in epileptology for nurses. She has written a number of educational book chapters both for colleagues and for patients.

Kristina Malmgren has for many years participated in ILAE’s teaching courses: as faculty member in one San Servolo course, in a number of Eilat educational courses and Baltic summer school courses. She has been on the faculty of the EPODES epilepsy surgery courses since 2008 and has chaired the program committee since 2012 during which time EPODES has developed into an international course cycle on epilepsy surgery with basic and advanced courses.

Prof Kristina Malmgren is the lead of the Sweedish EpiCARE centre, Sahlgrenska University Hospital, in Gothenburg, Sweden.

Professor Sylvain Rheims – Young Investigator Awards

The award is given to researchers in Europe under the age of 45 in recognition of outstanding contributions to epilepsy research and in order to stimulate a promising research career in epileptology.

Sylvain Rheims started his neurology residency in Lyon in 2003 where he immediately devoted his career to epilepsy. Early in his residency, he spent three full years and obtained his PhD in Neurosciences at Mediterranean Institute for Neurobiology in Marseille thanks to a prestigious INSERM grant. He then came back to clinic to finish his residency and perform an epilepsy fellowship. At 36, he was appointed head of Department of Functional Neurology and Epilepsy in Lyon, one of the most active epilepsy surgery centers in Europe, and co-chair of an INSERM/CNRS laboratory specialized in translational research in epilepsy (TIGER, CRNL, INSERM U1025, CNRS 5292). He was also appointed as full professor of Neurology at University Claude Bernard Lyon-1 in September 2017. He coordinates in Lyon the French National Reference Center for Rare Epilepsies and is deeply involved in the European Reference Network for rare and complex epilepsies (EPICARE), especially in the field of epilepsy surgery and clinical trials. Pr Rheims has published 71 pubmed referenced papers, including 42 as first or last authors. His clinical research skills cover the field of clinical epilepsy, including SUDEP, epilepsy surgery and clinical trials, and also biostatistics (including meta-analysis), and experimental epilepsy. His main research topics are evaluation of efficacy and safety of new antiepileptic treatments and development of innovative therapeutic strategies for epilepsy comorbidities, especially in the field of SUDEP, which has progressively become his main research axis.

Prof Sylvain Rheims is a member of the EpiCARE Steering Committee and leads the Work Package on Surgical Epilepsy.

The original article can be found here.