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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Authors
  • Pinós, Tomàs1
  • Andreu, Antoni L.1
  • Bruno, Claudio2
  • Hadjigeorgiou, Georgios M.3
  • Haller, Ronald G.4
  • Laforêt, Pascal5, 6
  • Lucía, Alejandro7, 8
  • Martín, Miguel A.8
  • Martinuzzi, Andrea9
  • Navarro, Carmen10
  • Oflazer, Piraye11
  • Pouget, Jean12
  • Quinlivan, Ros13
  • Sacconi, Sabrina14
  • Scalco, Renata S.13
  • Toscano, Antonio15
  • Vissing, John16
  • Vorgerd, Matthias17
  • Wakelin, Andrew18
  • Martí, Ramon1
  • And 30 more
  • 1 Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d’Hebron 119, Barcelona, Catalonia, 08035, Spain , Barcelona (Spain)
  • 2 IRCCS Istituto Giannina Gaslini, Genoa, Italy , Genoa (Italy)
  • 3 University of Thessaly, Volos, Greece , Volos (Greece)
  • 4 Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, TX, USA , Dallas (United States)
  • 5 Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France , Garches (France)
  • 6 Paris Saclay University, Paris, France , Paris (France)
  • 7 Universidad Europea de Madrid, Madrid, Spain , Madrid (Spain)
  • 8 Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, (‘imas12’), Madrid, Spain , Madrid (Spain)
  • 9 IRCCS Eugenio Medea-Associazione “La Nostra Famiglia” Scientific Institute, Bosisio Parini, Italy , Bosisio Parini (Italy)
  • 10 Institute of Biomedical Research of Vigo, Vigo, Spain , Vigo (Spain)
  • 11 Istanbul University, Istanbul, Turkey , Istanbul (Turkey)
  • 12 Centre de Référence Maladies Neuromusculaires, Assistance Publique-Hopitaux de Marseille, Marseille, France , Marseille (France)
  • 13 UCL Institute of Neurology, National Hospital, London, UK , London (United Kingdom)
  • 14 University of Nice, Nice, France , Nice (France)
  • 15 University of Messina, Messina, Italy , Messina (Italy)
  • 16 University of Copenhagen, Copenhagen, Denmark , Copenhagen (Denmark)
  • 17 University Hospital Bergmannsheil Bochum, Bochum, Germany , Bochum (Germany)
  • 18 Association for Glycogen storage Disease, Bristol, UK , Bristol (United Kingdom)
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Oct 15, 2020
Volume
15
Issue
1
Identifiers
DOI: 10.1186/s13023-020-01455-z
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundInternational patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders.ResultsTeams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients.ConclusionEUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level.

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