EpiCARE News and Events

Frequently Asked Questions and Specific Criteria for the European Reference Networks for membership

Frequently Asked Questions

1. What is an ERN?

A network connecting health care providers and centres of expertise of highly specialised healthcare, for the purpose of improving access to diagnosis, treatment and the provision of high-quality healthcare for patients with conditions requiring a particular concentration of resources or expertise no matter where they are in Europe. For clinicians who network widely already, the ERN will represent the formalisation of their networking structures/practices in highly specialized healthcare. For those without specialist networking communities at present, ERNs will promote expertise and support health care providers in order to bring local, regional and national provision of healthcare closer to the patients.

2. What is the role of the Board of MS?

The Board of Member States (BoMS) has the responsibility of approving European Reference Networks (ERNs) and members of the Networks. The BoMS consists of representatives from across the EU Member States and European Economic Area (EEA). The Board’s main roles and responsibilities are to:

  • Develop  and  maintain  rules  of  procedure  for  the  BoMS  (functioning  and  decision-making process);
  • Review the unfavourable opinion of the Board of the Network on the basis of the criteria and conditions set in point 2 of Annex II to Delegated Decision 2014/286/EU upon request of the Member State of establishment;
  • Can decide whether the application of a HCP with unfavourable opinion by the BoN can nevertheless be submitted to the Commission for further assessment;
  • Review the assessment reports and recommendations from the IAB;
  • Approve proposals for ERNs;
  • Approve proposals to add one or more members to an existing ERN;
  • Approve the termination of an ERN;
  • Decide on the loss of membership of one or more members of an existing ERN;

3. What are the roles of healthcare providers/CEs in ERNs?

An ERN is centred on highly specialised healthcare, first and foremost, and is expected to demonstrate:

  • knowledge and expertise to diagnose, follow up and manage patients with complex diseases or conditions which necessitate highly specialized healthcare
  • evidence of good outcomes of a multi-disciplinary approach to care
  • capacity to produce good practice guidelines and to implement outcome measures and
  • quality control o research, teaching and training
  • collaboration with other centers of expertise and networks

In addition, the Delegated Decision (Annex II) stipulates criteria for all ERN members to meet, with regards to:

  • patient empowerment and patient-centred care of organisation, management and business continuity or research and training capacity
  • exchange of expertise, information systems and e-health tools or expertise, good practices, quality, patient safety and evaluation

4. Are only rare diseases included in the scope of ERNs?

The scope of the ERNs, as laid out in the legal basis, is to provide highly specialised healthcare for both patients suffering from “rare diseases” or “low prevalence and complex diseases or conditions”. The Networks’ objective is to improve the access to diagnosis, treatment and the provision of high-quality healthcare to patients who have conditions requiring a particular concentration of resources or expertise.

5. How to apply to become a member of an ERN?

The applicant HCP should obtain from its Member State (MS) a written statement of endorsement 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.

The process how to become a member of an ERN is defined in the ERN Implementing Acts:

The membership application process will involve several steps:

  • Review the information on the Commission webpage which includes the current framework, the legislative proposal and a many frequently asked questions (FAQ);
  • Contact your national representatives in the ERN Board of MS. They will  provide you with more specific information on the national endorsement process;
  • Fill in the application and self-assessment in the online tool that will be published with the call;
  • Include all required documents that are specified in the online tool and in the assessment manual;

Information that the applicant will have to review will include:

  • Applicable legislation;
  • The scope of the diseases and thresholds established for each Network;
  • Information provided by the Networks on their websites;
  • Assessment manual and operational criteria;
  • Information how to fill out the application and self-assessment in the online tool (to be published).

6. How will applications be assessed?

The applications will have to pass four steps:

  1. the eligibility check by the Commission,
  2. the assessment by the Board of the Network
  3. the assessment by the Independent Assessment Body, and
  4. the approval by the Board of Member State.

Applicants will have to provide the endorsement of their Member State. The Assessment Manual for applicant members describes the assessment and the application process.

7. What does the conflict of interest policy cover?

Conflict of interest goes much further than only industries, academia and research institutions. It should cover each stakeholder external to an ERN that interacts with the Network at any stage and at any governance level.

According to the operational criteria for Networks (Measure 1.7.1), each ERN has to establish its own Conflict of Interest Policy, ensuring disclosure of all financial and nonfinancial conflict of interest related to the treatment or research activities before any engagement commences. Preparatory work to support all ERNs in this area is ongoing under the cross-ERN Working Group on Legal & Ethical issues & relations with Stakeholders.

The ERNs’ conflict of interest policy should respect relevant national and European legislation and follow the recommendations and guidelines developed by independent organisations and recognised bodies.

Applicants should follow the ERN rules and procedures on this issue.

8. What will be the relationship between ERN and industry?

There is no specific legal provision when it comes to the involvement of stakeholders, including industry stakeholders with the ERNs. Therefore, the Board of Member States has set up a specific working group to discuss this issue and issued a statement on the issue in 2016, prior to the approval of ERNs. An updated statement on ERNs and industry was adopted by the Board in June 2019.

The introduction of the statement reads as follow: “In recognition of the importance of the role of industry in improving the knowledge of rare conditions and developing diagnostics tools and therapies, the Board of Member States agrees with the engagement of ERNs with industry where appropriate, for example on clinical trials and research projects. However, as there is no legal provision for the collaboration between ERNs and industry, the Board of Member States offers the following guidance” (in nine specific points developed in the 2pages statement, for applicant ERN members to read).

9. Can a third country be a full member of an ERN?

No. The scope of the legal provisions of the Directive on patient rights to Cross border healthcare and all legal measures related with the ERN implementation, are only applicable to the EU and EEA member states. That implies that other third countries healthcare providers cannot participate as candidates for full membership of a European Reference Network as Affiliated Partners (Associated National Centres or Coordinating Hubs).  Nevertheless, one of the criteria that Networks are asked to fulfil is to cooperate with centres and networks of expertise at international level. That would allow non-EU or EEA countries to interact and exchange knowledge or participate in research or training projects, but not to exchange any clinical data of individual patients.

10. If a centre does not meet the Criteria defined in the Delegated Act Annex II, what are the options to participate in ERNs?

For the centres that will not meet the criteria, but nonetheless could contribute to an ERN, the Member State where the centre is located, and only if not having any full member in the same Network, might take a strategic decision on the convenience to designate this center as an Affiliated Partner (Associated National Centre or Coordination Hub)

11. What are the criteria for Affiliated Partners (Associated National Centres and Coordination hubs)?

One of the roles of the Member States is to designate their Affiliated Partners (Associated National Centres and Coordination hubs).

The Board of Member States in its paper issued in January 2016 includes the position of Member States on this regard:

12. If different wards/ units/ groups belonging to the same HCP wants to join the same ERN, can they together fill in the application forms as HCP X and then specify the different diseases they work on?

Yes, if different units belong to the same HCP (hospital) they must fill in only one application according to the criteria established by the Network. In case they are applying to different Networks, they must fill in one application per Network.

13. Do we need to translate the supporting documentation for HCP proposal (Appendix B, Self-Assessment for Healthcare Providers)?

Concerning the list of documents required in the self-assessment, the HCPs are requested to provide:

  • for some document a full translation in English (EN)
  • in some case a summary in English (EN_Sum) of the documents already available in the original language.
  • when no specific indication is provided the documentations can be provided in the original language.

The HCP should decide based on the format and availability of information whether the summaries of supporting documentation will be provided as a separate document per measure or as one document for all measures with the same level of details at the request of the Board of the Network and/or IAB.

See table below:

14. Can a single HCP represent a multidisciplinary team or a consortium of different HCPs?

Yes. It is possible that a single HCP submits the application on behalf of a consortium (legal or functional) or a multidisciplinary team including members belonging to different HCPs (Centres or Hospitals). One of the HCPs participating shall act as legal and technical representative of the Consortium.

Different members of the consortium will not be considered as different members of the ERNs but as parts of the consortium.

The name of the consortium should be agreed by the Consortium members, and validated by the National Authority in its endorsement letter.

Typical example of a Consortium are two different hospitals that are dealing with the same diseases or conditions but addressing different and complementary age groups (adult and paediatric) or are complementing the technical or human resources for the integral diagnosis or treatment of a given groups of diseases.

However, since the Independent Assessment Body will investigate the authenticity of this agreement both in the documentation review and during on-site visits, it will be the responsibility of the HCP’s representative to provide proof of the real collaborative work among the consortium HCPs. Examples of this collaboration may include e.g. sharing resources (human or technical) and patients.

It is also very important for the HCP to explain in its application how this functional collaboration is running at the time of the submission of the application. The applicant Network Coordinator should be fully aware and acknowledge the collaborative and common multidisciplinary work of those consortia.

15. Shall each member of the consortium sign the CEO agreement form and the HCP representative form?

No. The CEO and the Representative of the main member of the consortium shall sign the CEO-Agreement form and the HCP-representative form. His/her data shall be included in the application, and he/she will take the responsibility of the application, and if approved, the participation of the consortium in the Network.

The main member of the consortium, filling in the application form, should include a brief description on the consortium in the Section: 1: ‘Consortium’:

Unit/Department/Ward name of other healthcare providers members of the consortium’ and Section 2: ‘Description of area of expertise and healthcare providers contribution to care’. Any complementary documentation related with the consortium agreement, should be kept by the main member of the consortium and provided to the Independent Assessment Body if requested.

Independent Assessment Body when assessing the authenticity of this agreement will check this information.

16. Does the new healthcare professionals located in the same hospital or consortium of an already approved ERN member need to apply to the call to participate in the network?

No. The call is for new members not for new healthcare providers or “experts”. The integration of new healthcare professionals in the member’s team shall be discussed and decided at member or network level according to the internal rules of procedure of the ERNs.

17. Does current members of the ERNs need to apply to the call to expand their area of expertise / disease coverage?

No. The procedure for approval of the new expertise/diseases coverage from already approved ERN members within one hospital shall be discussed within the Board of Member States and ERN Coordinators Group.

18. Does the signing responsible of the Applicant have to be a legal representative?

No. It shall be a Medical Doctor or a healthcare professional that is leading or representing the concrete area of expertise of the ERN interested to apply.

This person would represent the new member, if approved, in the Board of the Network.

19. Identification and logo of the ERNs members

Applicants once approved as members of a European Reference Network will be sublicensed by the ERN Coordinator in order to use the ERN logo (trademark). The logo is owned by the European Union and should constitute the visual identity of the Networks and their Members.

To download the full PDF document, please click here.

EpiCARE ERN’s position regarding the new ERN application call

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1. EpiCARE HCP membership / application criteria

The European Commission will launch in the coming weeks the first call for new members to join existing 24 ERNs, following the adoption of the Commission Implementing Decision (EU) 2019/1269 of 26 July 2019 amending Decision 2014/287/EU.

The European Reference Network for rare and complex epilepsies ERN EpiCARE is an already established network of Health Care Providers (HCP). It is composed of 28 full member HCPs involving 13 EU countries (5 full members in Italy; 4 full members in the UK; 3 full members in France, Portugal and Spain; 2 full members in the Czech Republic and in Germany; and one full member in Belgium, Finland, The Netherlands; Poland; Romania and Sweden).

The EU Commission also authorized the designation of Affiliated Partners, expected to a establish a link to the Networks for those countries which do not have a member in a specific ERN. The ERN EpiCARE recently received a number of candidacies and evaluation of the submitted files is in progress. Affiliated Partners are not considered members of the Networks.

Full membership implies:

  • A recognized level of expertise in rare and complex diseases that require highly specialized healthcare;
  • Availability of medical staff to provide expertise to other centres at a EU level (cross-border advice on the most appropriate diagnosis and the best treatment);
  • Contribution to advances in the field of rare diseases; Collaborative research; Generation of knowledge and sharing of learnings; Publication in peer reviewed scientific journals;
  • Regular contribution to patient association activities;

HCPs, full members of an ERN are not funded by the Commission

Full members of the ERN EpiCARE have to fulfil a number of pre-established general criteria and specific requirements, summarized below.

General criteria applied by the ERN EpiCARE

  1. HCPs applying for full membership are expected to actively contribute to the missions of the ERN EpiCARE. These include:
    • Availability of the medical staff to provide expertise at CPMS Case discussions on a regular basis
    • Leadership and/or contribution to research projects and/or peer reviewed publications;
    • Active contribution to the ERN EpiCARE Working Packages
    • Contribution to educational activities of the ERN EpiCARE network (production of educational webinars; organization of or lecturing at scientific meetings on rare & complex epilepsies; etc.)
    • Regular completing the EpiCARE Registry (see set of ERN indicators)
    • A structured transition children-adult program
  2. National endorsement, with HCP recognition as center of expertise for rare/complex epilepsies, being able to cover the full range of complex/rare epilepsies (integrated diagnostic approach). HCP’s do not necessarily offer care in all specific domains, provided that an established written collaboration exists with other centers of competence (not necessarily ERN centers) that cover missing areas of expertise.
  3. Establishing national networks of care is strongly recommended.
    Consequently, the ERN EpiCARE complies with the proposal of the ERN coordinators for a maximum nr. of full member HCP’s per country on a population basis: ≤ 10×106 = 1 center, ≥ 10 and ≤ 20×106 = 2 centers etc.
  4. For each HCP (or for the established collaboration of the HCP with collaborating centers):
    – a minimum number of patients (see below) should be met for each domain of care offered
    – the availability of staff, tests, therapies, facilities (see below) is required
  5. in case of pediatric epilepsy surgery: HCP complies with recent ILAE criteria (level I or II centers; publication in process)
  6. HCP activities have had demonstrable societal and/or scientific impact (e.g.: publications, guidelines, dissertations, teaching, societal recognition [media coverage, prizes], editorial boards, scientific committees, policymaking committees etc.)

Specific requirements applied by the ERN EpiCARE

Main thematic groups of epilepsies: genetic, structural, infectious, immune, surgically treatable, syndromic, metabolic, neonatal seizures, status epilepticus

Key diagnostic tests available:

For all epilepsies: regular access to 24h VEEG (3-4d) monitoring, 3T MRI (+anesthesia),
neuropsychology and/or neurodevelopment clinic; genetic counselling;

For surgical epilepsies: high-resolution MRI, high-field (at least 3T) MRI, MRI postprocessing, PET, SPECT, MEG/CSI, neuropathology, invasive monitoring, resective surgery (see criteria for level I or II centers in children);

For other epilepsies: microbiology, NGS, specialist neurobiochemistry and immunology lab, neonatal cVEEG

Key treatments: registries; personalized treatment; facilities to contribute to clinical trials; epilepsy surgery program; ketogenic diet program; 2x/month multidisciplinary surgical discussions, dietary intervention, immunomodulatory treatment, chemotherapy, plasma exchange, clinical neonatal expertise, novel agents in refractory status

Staff: adult and/or pediatric epileptologist/neurophysiologists, neonatologist, geneticist, neuroradiologist with expertise in epilepsy, neuropsychologist, nuclear med physician, epilepsy neurosurgeon, neuropsychiatrist, ophthalmologist, biochemist, dietician, metabolic clinician

Minimum thresholds that HCPs meet to contain competence and expertise:

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Main thematic groups Patients/yr New patients/yr Procedures/yr
Genetic epilepsies 150 40
Structural epilepsies 150 40
Infectious epilepsies 25 5
Immune epilepsies 25 5
Surgically treatable epilepsies 50 45 20 resections; 10 invasive monitoring procedures
Syndromic epilepsies other 50 25
Metabolic epilepsies 25 5
Neonatal seizures 10 10
Status epilepticus 10 10
General activity 200 VEEG monitorings; 200 MRIs

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2. EpiCARE HCP performance / monitoring indicators

Each HCP, full member or affiliated partner of the ERN EpiCARE, regularly reports to the Steering Committee all what is requested for yearly reporting to EC

Generic indicators (for each ERN)

  1. Number of new patients (within EpiCARE scope) referred to HCP
  2. Number of formal educational activities (i.e. those accruing higher educational credits) organized by HCP (specify)
  3. Number of clinical trials or observational prospective studies in which the HCP participates (specify)
  4. Number of accepted peer-reviewed publications in scientific journals (within EpiCARE scope)
  5. Number of guidelines the HCP has produced/participated in
  6. Number of congresses/meetings at which EpiCARE activities/results were presented (specify)
  7. Level of patient satisfaction (to be developed): standardized score forms; provide number and average score
  8. HCP compliance to clinical guidelines (to be developed)

Additional EpiCARE-specific indicators

  1. Number of patients diagnosed/treated per domain (see p. 1)
  2. Proportion of patients with rare/complex epilepsy receiving a specific aetiological diagnosis (not only in terms of ILAE aetiology category)
  3. Average time between multidisciplinary team decision to perform epilepsy surgery and the actual procedure (surgical waiting-list)
  4. Report on annual collaborations with patient associations (participation at patient meetings; contribution to Medical Boards; etc.)

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You can download the EpiCARE ERN position paper here

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EpiCARE film was awarded a Silver Dolphin Award at the 10th Cannes Corporate Media & TV Awards

We are delighted to announce that the European Commission’s EU Protects Campaign that features a short film about the collaborative work of EpiCARE was awarded a Silver Dolphin Award in Category A6: Integrated Communication: films and videos as part of a larger communication campaign at the 10th Cannes Corporate Media & TV Awards yesterday.

Overall 950 productions from 51 countries were sent into this year’s international competition, of these, 206 submissions were delighted to receive a shortlist nomination and out of them 149 won a Dolphin trophy.

The short film shows a Europe-wide collaboration that helped a 4-year-old Finnish boy diagnosed with hypothalamic hamartoma. The story of this boy started off with one of our regular surgical epilepsy case discussions as his Finnish doctor sought advice about his treatment.

You find the announcement of the winners here

You can watch the EpiCARE film here

You find the EU Protects campaign here

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.

 

 

 

 

 

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