European network of reference centers for rare neuromuscular diseases

Breaking news

On 15th December the Board of Member States of ERNs voted to approve all 23 ERN proposals submitted under the first wave. European Reference Networks are networks connecting expert centres in the field of rare diseases and specialised healthcare, organised across borders. This concept has been developing and maturing over the past five years and represents a major innovation in care for Europe’s 30 million rare disease patients: although pan-European structures exist in the research domain, this is the first such enterprise in the health sphere. ERNs have been organised around broad disease groups, to ensure that no patient with a rare disease is left ‘without a home’ under an ERN. This is a major innovation for rare diseases in Europe, involving 370 hospitals and almost 1000 highly specialised units across 26 Countries (25 EU Member States + Norway).

The full list of approved ERN applications is available via the official EC webpage. Further details may be found on the dedicated RD-ACTION webpage. Euro-NMD was one of the 23 approved ERNs. We are happy to inform that all of the 61 Healthcare Providers that applied to be part of EURO-NMD have been approved. We will all enjoy working together under the roof of the European Reference Network for Rare Neuromuscular Diseases, EURO-NMD from 2017. Whether EURO-NMD will receive funding for coordination activities from the European Commission will be determined separately, and we expect to hear in the first quarter of next year.

Thank you all for the immense effort and support during the preparation of the EURO-NMD and HCP applications, which is evidence for the excellent collaborative spirit amongst neuromuscular centres and experts in Europe. Congratulations and best wishes for the festive season!

The network coordinators (Professor Kate Bushby, Professor Hanns Lochmüller, Dr. Teresinha Evangelista)

Our mission: building bridges and breaking-barriers in rare neuromuscular diseases

Aim of the network

The aim of EURO-NMD is to improve the quality and equity of access to highly specialised healthcare for patients with rare neuromuscular disorders, regardless of where they live in  Europe. It will enable the exchange of knowledge and expertise through the pooling of data, via training and formal teaching. EURO-NMD will also support translational research - the development of new drugs and the recruitment of patients into clinical trials.

The main functions of the network will be:


EURO-NMD Abstract

EURO-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by acquired or genetic defects of motorneurons, peripheral nerves, neuromuscular junctions or skeletal muscle, resulting in muscle weakness and wasting, swallowing and breathing difficulties, and cardiac failure. NMDs are difficult to recognize, and patients experience long delays in diagnosis. No curative treatments yet exist for any NMD and their rarity and diversity pose specific challenges for healthcare and research, and for the development and marketing of therapies.
NMDs collectively affect an estimated 500,000 EU citizens and result in significant costs for families and the healthcare system. EURO-NMD unites 61 of Europe’s leading NMD clinical and research centres in 14 Member States and includes highly active patient organizations. More than 100,000 NMD patients are seen annually by the ERN. The network addresses harmonizing and implementing standards for clinical and diagnostic best practice, improving equity of care provision across Member States, decreasing time to diagnosis, increasing cost efficiency through better care pathways, access to specialist training and education, application of eHealth services, development and application of care guidelines, facilitating translational and clinical research, harmonising data and samples for research reuse, and sharing of high-quality data.
EURO-NMD partners will form the backbone for national implementation of best practice NMD care and will form trusted partnerships with payers, national health systems and RD national plans. Ultimately, EURO-NMD will improve health outcomes in NMD patients across Europe, provide new opportunities for translational research, and reduce the burden of these chronic disabling conditions for families and healthcare systems in Europe.

Healthcare Providers in EURO-NMD

Structure of the Potential Network

The ERN will have a 'multi-tiered hub structure' so that it can accommodate the associated and collaborative members as well as the existing research networks and the learned societies.
In essence, this means that although a limited number of health care providers will be members of the network, 'non-member centres' will be affiliated to the ERN and will be able to access the expertise of the ERN, submit patients etc. Full members of the ERN will therefore be expected to disseminate key messages and engage with their national colleagues working in this disease field. This structure will also allow the collaboration with the learned societies and research networks avoiding duplication of efforts in areas like education/teaching; registries; bio banking and care guidelines among others.
The ERN is required to have to have a board of the ERN that should be established in accordance with what is stipulated in the operational criteria. It should include one representative from each healthcare provider that is a full member of the ERN. There will be a coordinator of the ERN nominated by the coordinating centre. The board will also include two patient representatives.
The board of the ERN will be supported by thematic groups, developed around the main groups of diseases: Muscle, NMJ, Nerve, Mitochondrial Neuromuscular diseases and ALS/MND/SMA, each of them with a spokesperson. There will be cross cutting groups, for instance 'Diagnostic Tools' (genetics, pathology, imaging, etc.) that will cover common issues of the different diseases. These groups will report to the board and will help with the governance of the network.
A secretariat, an ethics committee, an educational board and a research board will support the overall structure. It will be supervised by an external evaluation body and with the input of the patients advisory board (from this advisory board would be elected the two representatives for the board of the ERN).

Specialist Groups

Muscle Diseases
Kate Bushby

Peripheral Nerve Diseases
Mary Reilly

Motor Neuron Diseases
Leonard van den Berg

Neuromuscular Junction Defects
Hanns Lochmüller

Mitochondrial Diseases
Rita Horvath

Cross Cutting Specialist Groups

Neuromuscular Imaging




Disease Coverage & Definitions

The network will cover all rare neuromuscular diseases with the main specialist groups (subdomains) being:

Our partners in the EURO-NMD Network

1 The Newcastle upon Tyne Hospitals NHS Foundation Trust  Prof Kate Bushby  University Hospital  UK 
2 Expert Centre for Hereditary Neurologic and Metabolic Disorders,  Prof Ivailo Tournev  University Hospital  Bulgaria 
3 Sahlgrenska University Hospital  Prof Mar Tulinus  University Hospital  Sweden 
4 Oxford Neuromuscular Centre  Dr Jackie Palace  Regional Hospital  UK 
5 Childrens Clinic Essen University Hospital  Prof Ulrike Schara  University Hospital  Germany 
6 Radboud University Medical Center  Prof Baziel van Engelen  University Hospital  Netherlands 
7 Maastricht UMC+  Prof Catharina Faber  University Hospital  Netherlands 
8 Friedrich-Baur Institute  Prof Maggie Walter  University Hospital  Germany 
9 Erasmus MC University Medical Center  Prof Ans van der Ploeg  University Hospital  Netherlands 
10 University College London Hospitals NHS Trust  Prof Mary Reilly  University Hospital  UK 
11 Tampere University Hospital  Prof Bjarne Udd  University Hospital  Finland 
12 Department of Neurology, Medical University Teaching Hospital (SPCSK)  Prof Anna Kostera-Pruszczyk  University Hospital  Poland 
13 UZ Gent  Prof Jan De Bleecker  University Hospital  Belgium 
14 Academic Medical Centre  Dr Anneke Van der Kooi  University Hospital  Netherlands 
15 Leiden University Medical Center  Prof Jan Verschuuren  University Hospital  Netherlands 
16 University Medical Centre Utrecht, Section Neuromuscular Diseases  Prof Leonard van den Berg  University Hospital  Netherlands 
17 Medical Center - University of Freiburg  Prof Janbernd Kirschner  University Hospital  Germany 
18 University Hosiptals Leuven, Neuromuscular Reference centre  Prof Kristle Claeys  University Hospital  Belgium 
19 University Hospital of Saint-Etienne  Dr Jean-Christophe Antoine  University Hospital  France 
20 Dr V Hauner Children's Hospital, Ludwig-Maximillians-University  Prof Wolfgang Muller-Felber  University Hospital  Germany 
21 Complejo Hospitalario Regional Virgen del Rocío  Dr Carmen Paradas  Regional Hospital  Spain 
22 Assistance Publique -Hopitaux de Marseille  Prof Jean Pouget  Regional Hospital  France 
23 CHU Limoges  Prof Phillipe Couratier  University Hospital  Frnace 
24 Motol University Hospital  Dr Jana Haberlova  University Hospital  Czech Republic 
25 Nantes University Hospital  Prof Yann Pereon  University Hospital  France 
26 APHP Paris  Dr David Adams  Regional hospital  France 
27 Antwerp University Hospital (UZA)  Prof Peter De Jonge  University Hospital  Belgium 
28 Assistance Publique - Hopitaux de Paris (APHP) Consortium (NeMusChALS)  Prof Bruno Eymard  Reference centres  France 
29 APHP Raymond Poincaré Hospital, University Hospitals Paris-Ouest  Prof Susanna Quijano-Roy  University Hospital  France 
30 Fakultni nemocnice Brno  Dr Stanislav Vohanka  Rgional Hospital  Czech Republic 
31 Centre Hospitalier Univeritaire de Nice (CHUN)  Prof Claude Desnuelle  University Hospital  France 
32 Azienda Ospedaliero-Universitaria Pisano  Prof Gabriele Siciliano  University Hospital  Italy 
33 Neuromuscular Center of the University Medical Center Gottingen  Prof Jens Schmidt  University Hospital  Germany 
34 Hospital Universitari i Politècnic La Fe  Prof Juan Vilchez  University Hospital  Spain 
35 Azienda Ospedaliera Padova  Prof Elena Pegoraro  University Hospital  Italy 
36 Hospital Universitari Vall D'Hebron  Dr Josep Gamez  University Hospital  Spain 
37 Ospedale Pediatrico Bambino Gesù IRCCS  Prof Enrico Bertini  Regional Hospital  Italy 
38 Great Ormond Street Hospital, Foundation Trust  Prof Francesco Muntoni  Regional Hospital  UK 
39 University Hospital of Bonn  Prof Cornelia Kornblum  University Hospital Bonn  Germany 
40 Hosipital de la Santa Creu i Sant Pau  Prof Isabel Illa Sendra  University Hospital  Spain 
41 Cliniques Universitaires de Bruxelles - Hopital Erasme  Dr Gauthier Remiche  University Hospital  Belgium 
42 University Hospitals Saint-Luc  Prof Peter Van den Bergh  University Hospital  Belgium 
43 Semmelweis University  Prof Maria Judit Molnar  University Hospital  Hungary 
44 Istituto Nazionale Neurologico Carlo Besta (no n in Istituto)  Prof Davide Pareyson  Regional Hospital  Italy 
45 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano  Prof Maurizio Moggio  University Hospital  Italy 
46 Fondazione Policlinico Universitario A. Gemelli  Prof Eugenio Mercuri  University Hospital  Italy 
47 University of Pecs  Prof Bela Melegh  University Hospital  Hungary 
48 AOU - Second University of Naples (SUN)  Prof Luisa Politano  University Hospital  Italy 
49 University Medical Center Ljubljana  Prof Borut Peterlin  University Hospital  Slovenia 
50 Universitätsklinikum Ulm (UKU) in cooperation with the Universitätsund Rehabilit  Prof Jochen Weishaupt  University Hospital  Germany 
51 AOU Policlinico "G.Martino" Messina  ProfAntonio Toscano  University Hospital  Italy 
52 Azienda Ospedaliera-Universitaria Ferrara  Prof Alessandra Ferlini  University Hospital  Italy 
53 Nemo Clinical Center (Neuromuscular Omnicomprehensive)  Dr Valeria Sansone  University Hospital  Italy 
54 Karolinska Universitetssjukhuset  Prof Thomas Sejersen  University Hospital  Sweden 
55 Charité-Universitätsmedizin Berlin  Prof Angela Maria Kaindl  University Hospital  Germany 
56 Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino  Prof Tiziana Mongini  University Hospital  Italy 
57 Hospital Sant Joan de Déu  Dr Andres Nascimento  Regional Hospital  Spain 
58 Azienda Ospedaliera Universitaria Senese  Prof Antonio Federico  University Hospital  Italy 
59 Paediatric Neurology andNeuromuscular Disorders Unit - Gaslini Institute  Prof Carlo Minetti  Regional Hospital  Italy 
60 Istituto Auxologico Italiano Istituto di Ricovero e Cura a Carattere Scientifico  Prof Vicenzo Silani  University Hospital  Italy 
61 ASST “Spedali Civili”  Dr Massimiliano Filosto  Regional Hospital  Italy 


For more information please contact Hannah Skingsley

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