WHAT IS EUROMAC?
As well as McArdle Disease, EUROMAC also covers related muscle conditions that are even more rare. These include Glycogenosis Types 0, IV, VII, IX, X, XIII; Phosphoglycerate Kinase 1 Deficiency and Muscle Lactate Dehydrogenase Decifiency. EUROMAC arises from the international demand for cooperation on Rare Diseases, which led the European Commission and the US National Institute of Health to create in 2010 the International Rare Diseases Research Consortium (IRDiRC), with the mission of pursuing better diagnosis and treatment of rare diseases through the set up and maintenance of patient registries.
Stemming from the experience gained in Spain by collecting data into a national registry of over 200 McArdle patients, EUROMAC addresses this mission and its expected impact by joining 15 partners from 7 EU countries, Turkey and the US. We have divided our work across 8 different working groups, dealing respectively with:
Study of Ethical aspects related to the registry and set up of related procedures and forms, led by Assistance Publique Hospitaux de Paris;
Set up of the registry itself, led by the University Hospital 12 de Octubre, Madrid, based on their previous experience with the Spanish registry;
Analysis of the data gathered in the registry, led by Rigshospitalet University of Denmark;
Data and quality management, coordinated by the University of Larissa, Greece;
A thorough training and dissemination campaign aimed at spreading knowledge about McArdle Disease and other forms of rare muscular glycogenosis, led by the Association for Glycogen Storage Disease UK and University College London. Check out or news and events sections for future initiatives about McArdle targeted at both patients and health professionals;
Project Evaluation, lead by the Institute for Hospitalization and Scientific Care “Eugenio Medea”, Conegliano Veneto, Italy;
Project management and coordination, aimed at ensuring that EUROMAC runs smoothly as a whole throughout its 3 ½ years, carried out in Barcelona by the Vall D’Hebron Research Institute.
WHAT IS THE REGISTRY OF PATIENTS AND WHY IS IT BEING CREATED?
EUROMAC registry is a secure, anonimised and confidential database designed to contain the medical data related to people with McArdle Disease and related conditions who give their consent to inclusion. The database will collate data from all people with the included conditions. EUROMAC aims to promote awareness and understanding of McArdle Disease and related conditions, to harmonise standards of diagnosis and care and to promote research.
EUROMAC hopes to recruit into the registry all those who are diagnosed with McArdle Disease and a number of even more rare related conditions. It will be seeking cooperation from medical professionals and patients to facilitate this. To be included, it is essential that the diagnosis is supported by DNA analysis. By being included in the registry, patients will be contributing to the well being of future generations of people with these conditions. Key aims being early diagnosis, high quality advice and management, and eventually an effective treatment or even a cure.
The registry can be used in a number of ways but the key ones are: for desk research and to identify suitable candidates for inclusion in future studies of treatments and trials of drugs.
EXPECTED LONG-TERM IMPACT
Improve access by patients to specialised care
Facilitate the involvement of national governments and regulatory agencies
Improve knowledge of the natural history of McArdle Disease and other rare neuromuscular glycogenoses
Reduce the average delay in diagnosis
Reduce risk of incorrect advice leading to debilitating symptoms and increased risk of life-threatening crises necessitating admission to critical care.
WHO IS RESPONSIBLE FOR THE REGISTRY? WHO SUPPORTS IT?
We are researchers in the field of neuromuscular disorders who investigate, at the clinical and research level, on glycogen storage disease type V (GSD V) (OMIM® number 232600), also known as McArdle Disease and other related ultra-rare muscle glycogenoses. We represent twenty institutes from across Europe, plus Turkey and the US, which make up the founding consortium of EUROMAC. The initial project started in March 2013, it will last just under four years and is coordinated by the Neuromuscular and Mitochondrial Pathology Group of the University Hospital Vall d’Hebron Research Institute in Barcelona, Spain. The other members of the consortium are the following:
EUROMAC is funded by the European Commission’s Directorate General for Health and Consumers under contract number 2012 12 14. Moreover, EUROMAC is supported by several patients’ associations and large networks of patients registries, such as the Association for Glycogen Storage Disease,,and the EPIRARE Group on Rare Disease Registries. Check out here for further updates on new collaborations.
Toni is an M.D. Ph.D specialized in genetics and genomics of rare diseases. He has been working in the field of neuromuscular disorders from the translational perspective of the pipeline, from basic science to the development of cell and animal models and clinical research
Toni is now the Scientific Director at EATRIS, the European Advanced Infrastructure for Translational
-Postdoctoral researcher of the Rare diseases & Pediatric Medicine Group at the Galicia Sur Health Research Institute
– IISGS (since 2014). -Head of the Genomic Unit at the IISGS (since 2015).
-Member of the Independent Clinical Research Unit at the IISGS integrated in the Spanish Clinical Research Network – SCReN (since 2021).
-Head of the DNA Bank of the University Hospital of Vigo Biobank integrated in the Spanish Biobank Network Platform (since 2010)
I am Associated Consultant in Clinical Biochemistry, working at Biochemistry and Clinical and Genetics Departments of the '12 de Octubre' University Hospital, Madrid (Spain). I am a member of AEGH (Spanish Association for Human Genetics), and SEQC-ML (Spanish Society of Clinical Chemistry, and Laboratory Medicine).
Pascal Laforêt, MD, PhD, is a professor of Neurology at the Versailles-Saint Quentin University, consultant specialized in neuromuscular disorders (myasthenia gravis, muscular dystrophies, and metabolic myopathies) in the Neurology department of Raymond-Poincaré hospital, and coordinator of North/East/Ile de France neuromuscular center and FHU Phenix dedicated to translational research in neuromuscular disorders.
Head of Research Group on Neuromuscular and Mitochondrial Diseases
-Professor of Neuromuscular Disease
-Clinical Lead for the Highly Specialized Service for McArdle Disease and Related DisorderS
Dr Durmus became an Associate Professor in 2015 and a Professor in 2020 at the Istanbul Faculty of Medicine, Istanbul, Turkey. She is a fellow of the European Board of the Neurology. Dr Durmus’s interest in neurology has centred on neuromuscular diseases, especially in rare genetic disorders. Dr Durmus is author of 74 scientific articles (56 peer-reviewed on PubMed). H-index 14 (Web of science), number of citations, 635
- Director of Neurology, "E.Medea" Scientific Institute, Conegliano Research Centre
- Director of the Research Branch of the Italian WHO-FIC Collaborating Centre
- Professor of Neurology, School of Medicine, University of Padova
- Professor of neuropharmachology, hospital pharmacy program, University of Padova
Electronic Engineer. He is Head of the Applied Technologies Research Area of IRCCS Medea. His role includes technical supervision and coordination of his multidisciplinary team made up by engineers, psychologists and physiotherapists. He is involved in the development and testing of new technical solutions mainly for clinical, pedagogical and psychological applications.
-Associate Professor (since 2020)
-Junior Principal Investigator (since 2018)
-Neurologist (since 2000)
-Member of the Neuromuscular Center the Netherlands (since 2000)
-Member of the subsidiary board of the St Thomas More foundation (since 2018)
-Consultant neurologist at Rigshospitalet, Copenhagen
-Director of the Copenhagen Neuromuscular Center and Neuromuscular Clinic, since 2000 (42 employees).
-Lecturer and associate professor of neurology at the University of Copenhagen.
-Professor of Neurology, University of Copenhagen, Denmark.
Andrew was diagnosed with McArdle disease in 1980. He recalls symptoms from age 4, but at 16 after four misdiagnoses he gave up seeking answers. Then at age 30, a rheumatologist investigating his gout listened to his history, did a CK test and referred him to a neurologist. He had a muscle biopsy and at last there was a diagnosis. 20 years later it was confirmed by genetic testing. In 2012 Andrew became a patient representative and board member on Euromac, with responsibility for the dissemination work package. He is a co-founder of the International Association for Muscle Glycogen Storage Disease.
Professor in Exercise Physiology and Senior Researcher. My main research focus is to build scientific evidence on the therapeutic effects of physical exercise against major chronic diseases. Over my career, I have shown tailored exercise prescription to represent a safe, effective coadjuvant therapy for improving the health status of patients with numerous diseases, and led innovative inhospital exercise trials. My approach to medical research is holistic and multidisciplinary
-Medical doctor, specialist in Neurology, Unit of Neurology and Neuromuscular Diseases, AOU Policlinico di Messina. Expert in myopathology, clinical and diagnostic procedures in neuromuscular disorders. Responsible of the in-and out-patients and DH activity for adult patients affected by rare neuromuscular disorders.
-Assistant professor of Neurology MED/26 University of Messina
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