Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron)
Andreu Périz, Antoni Lluís (Vall d'Hebron Institut de Recerca (VHIR))
Bruno, Claudio (IRCCS Istituto Giannina Gaslini (Gènova, Itàlia))
Hadjigeorgiou, Georgios M. (University of Thessaly)
Haller, Ronald G. (Texas Health Presbyterian Hospital)
Laforêt, Pascal (Paris Saclay University)
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Martinuzzi, Andrea (IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute)
Navarro, Carmen (Instituto de Investigación Biomédica de Vigo)
Oflazer, Piraye (Istanbul University)
Pouget, Jean (Assistance Publique-Hopitaux de Marseille)
Quinlivan, Ros (UCL Institute of Neurology, National Hospital)
Sacconi, Sabrina (University of Nice)
Scalco, Renata S. (UCL Institute of Neurology (Regne Unit))
Toscano, Antonio (University of Messina)
Vissing, John (Copenhagen University Hospital Rigshospitalet)
Vorgerd, Matthias (University Hospital Bergmannsheil Bochum)
Wakelin, Andrew (Association for Glycogen storage Disease (Regne Unit))
Martí, Ramon A. (Vall d'Hebron Institut de Recerca (VHIR))
Universitat Autònoma de Barcelona

Data:	2020
Resum:	International 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. Teams 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. EUROMAC 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.
Ajuts:	Ministerio de Economía, Industria y Competitividad PI16/0149 Instituto de Salud Carlos III PI19/01313
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Myopathy ; Rare diseases ; International registry ; McArdle disease ; Metabolic diseases ; Glycogen storage disease
Publicat a:	Orphanet journal of rare diseases, Vol. 15 (october 2020) , ISSN 1750-1172

DOI: 10.1186/s13023-020-01455-z
PMID: 33054807

11 p, 563.5 KB

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