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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.

 

 

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