On Thursday 30th November EURO-NMD held its first annual meeting in Freiburg, Germany. All our 61 healthcare providers (HCPs) from across Europe were offered a free registration along with a bursary for travel and accommodation. The remainder of the 123 registrations we received was made up of external attendees interested in finding out more about the new network, how it was developed and what it was planning to achieve.
The meeting was designed to reflect the different aspects of the network and as such the structure of the day, in part, mirrored the structure of the network itself. The programme which now features links to several of the talks, is available below.
The day began with a welcome presentation from Anna Carta, a representative from the ERN Team from the European Commission. Anna introduced the top-level perspective of the European Reference Networks ERNs and talked about the implementation process of the networks. Anna highlighted the concept behind the networks, areas of importance and the key stakeholders. Also mentioned were the current discussion topics between ERN Board of Member States and the network coordinators, anticipated upcoming challenges along with overall goals rounded off Anna’s talk which is available to download from our website.
Teresinha Evangelista from network coordination office based at Newcastle University followed on from Anna with a more specific presentation about EURO-NMD, reinforcing the all-important referral procedures for patients. The achievements of EURO-NMD were covered as were funding issues and the status of grants applied for. Future developments and interactions were also talked about.
Cross Cutting Working Groups
Jean-Philippe Plançon updated attendees about the Education Board, 34 of the network’s HCPs have expressed their wish to be involved in this area. The group intends to develop an annual education plan once they have identified, endorsed and promoted current established events.
François Lamy from the Patient Advisory Board highlighted objectives, activities, membership and governance. He went on to look at the role of the board, how it will operate within all other network groups and a dissemination strategy.
Disease Groups Session
Carmen Paradas chaired the disease group session with the following leaders presenting…
- Rita Horvath – Mitochondrial Diseases
- Leonard van den Berg – Motor Neuron Disease/Spinal Muscular Atrophy
- Marianne de Visser – Muscle Diseases
- Hanns Lochmüller – Neuromuscular Junction
- Davide Pareyson – Peripheral Nerve Diseases
Common to all groups was the focus on group structure, collaboration between the groups and other ERNs, asset mapping and guidelines.
Additionally, Rita Horvath for the Mitochondrial Group highlighted three recent publications on diagnostic guidelines and an outcome measures workshop.
Leonard van den Berg whilst presenting for the Motor Neuron/ SMA Group also spoke about priorities such as trial readiness and education. The SMA subgroup touched upon the cost of Spinraza, the new guidelines for SMA and registries.
Marianne de Visser for the Muscle Diseases Group additionally covered their group’s objectives, which included performing analysis of existing care guidelines, clinical outcome measures and standard operating procedures for diagnostic tools as well as reaching out to other ERNs such as MetabERN and ERN ReCONNET.
Hanns Lochmüller presentation for the Neuromuscular Junction Group this included results of a gap analysis around guidelines that pointed to the lack of a guide for congenital myasthenic syndromes; paediatric myasthenia gravis (mg). Suggestions for autoimmune MG included guidelines of management, a registry and the standardization of antibody testing.
Davide Pareyson presented information about the Neuropathy Group. Updates included consensus statements that have been so far collected for various neuropathies. New treatments for TTR-related amyloid neuropathy and two gene silencing trials in hATTR-neuropathy, the creation of subgroups and a neuropathy day completed the Disease Groups’ presentations.
Diagnostics Tools Groups
Marianne de Visser chaired the Diagnostic Tools Groups’ presentations. Firstly, Pierre Carlier presented for the imaging group. He focused initially on objectives and then gave a brief overview of the diagnostic process using NMR imaging for NMDs. He then talked about the group’s activities and its impact throughout the rest of the network and beyond. He finished looking educational activities highlighting the Myology Summer School in Paris.
The Pathology Group is lead by Bjarne Udd and he touched upon the structure of the group highlighting the HCPs that have yet to engage with the group. The quality and standarisation of processes, and potential areas of improvement to increase the accuracy of diagnosis were all discussed. Future opportunities in education and training along with consultation of cases using the CPMS (Clinical Patient Management System) were discussed.
Camiel Verhamme for the Neurophysiology Group highlighted the group’s vision to standardize practice in the areas of nerve conduction studies, electromyography, repetitive stimulation, single fibre EMG and muscle and nerve ultrasound. Additionally, they want to explore the standardization of a digital export format for ENMG machines.
Alessandra Ferlini presented for the Genetics Group highlighting some of the issues faced, genetic testing needing to be within the network and the interaction with stakeholders. Goals include strong interaction with RD-Connect, reviewing genetic guidelines and a survey to find out which diseases are currently being genetically diagnosed at each of our HCPs. Ongoing actions for this group included looking at funding opportunities, workshop applications, roadmap for the patients want a diagnosis and industry collaboration to co-develop easy-to-use diagnostic kits.
After the lunch break four interesting/unsolved cases were presented to model the use of the CPMS. The cases aimed at looking for advice from the audience about treatment, diagnosis and genetic counselling amongst other topics.
Ruth Nibhraonain gave a short but very informative demonstration of the Clinical Patient Management System. Ruth demonstrated the many features of the system such as the pedigree chart, the interactive DICOM viewer and meeting system that have all been developed to operate in a secure environment and so help clinicians with the diagnosis and treatment of patients across the EU.
The day drew to a close with poster presentations, several of the most innovative and representative posters of our ERN were briefly highlighted in the final session.
Hanns Lochmüller who played a significant role in the planning stages of the network was asked to officially bring the day to an end.
Historic Merchants’ Hall, Freiburg, Germany
|Welcome from the EU Commission
Overview of our ERN
|Cross cutting working groups
Research (15 & 5mins) – Hanns Lochmüller
Education (15 & 5mins) – Jean-Philippe Plançon
PAB/Ethics (15 & 5mins) – François Lamy
|Coffee break with e-posters projected and available online
Round table 1 – Carmen Paradas
Disease Groups (60 mins)
Mitochondrial Diseases – Rita Horvath
Round table 2 – Marianne de Visser
Diagnostic Tools Groups (60 mins)
|Lunch break with e-posters projected and available online
|Panel discussion/ Unsolved interesting cases (75 mins)
(5 cases to be presented by the HCPs) from …
Mitochondrial Diseases / Nerve / Muscle/ NMJ / Motor Neuron Disease
Bjarne Udd and Teresinha EvangelistaCPMS live demonstration (15 mins) – Ruth Nibhraonain
|Coffee Break with e-posters projected and available online
Session Four – Wrap up
|Short oral presentations – HCP Poster Highlights – Tiziana Mongini
Wrap up of main meeting (15 mins) – Hanns Lochmüller