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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós, Tomàs; Andreu, Antoni L; Bruno, Claudio; Hadjigeorgiou, Georgios M; Haller, Ronald G; Laforêt, Pascal; Lucía, Alejandro; Martín, Miguel A; Martinuzzi, Andrea; Navarro, Carmen; Oflazer, Piraye; Pouget, Jean; Quinlivan, Ros; Sacconi, Sabrina; Scalco, Renata S; Toscano, Antonio; Vissing, John; Vorgerd, Matthias; Wakelin, Andrew; Martí, Ramon.
Afiliación
  • Pinós T; Biomedical Network Research Centre on Rare Diseases (CIBERER), 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, 08035, Barcelona, Catalonia, Spain.
  • Andreu AL; Biomedical Network Research Centre on Rare Diseases (CIBERER), 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, 08035, Barcelona, Catalonia, Spain.
  • Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Hadjigeorgiou GM; Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, Volos, Greece.
  • Haller RG; Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, TX, USA.
  • Laforêt P; Nord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France.
  • Lucía A; INSERM U1179, END-ICAP, Paris Saclay University, Paris, France.
  • Martín MA; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.
  • Martinuzzi A; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, ('imas12'), Madrid, Spain.
  • Navarro C; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, ('imas12'), Madrid, Spain.
  • Oflazer P; Department of Conegliano-Pieve di Soligo, IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute, Bosisio Parini, Italy.
  • Pouget J; Institute of Biomedical Research of Vigo, Vigo, Spain.
  • Quinlivan R; Department of Neurology, Neuromuscular Unit, Istanbul University, Istanbul, Turkey.
  • Sacconi S; Centre de Référence Maladies Neuromusculaires, Assistance Publique-Hopitaux de Marseille, Marseille, France.
  • Scalco RS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
  • Toscano A; University of Nice, Nice, France.
  • Vissing J; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, UK.
  • Vorgerd M; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Wakelin A; Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Martí R; Heimer Institute for Muscle Research, University Hospital Bergmannsheil Bochum, Bochum, Germany.
Orphanet J Rare Dis ; 15(1): 187, 2020 10 15.
Article en En | MEDLINE | ID: mdl-33054807
BACKGROUND: 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. RESULTS: 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. CONCLUSION: 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno / Enfermedad del Almacenamiento de Glucógeno Tipo V Tipo de estudio: Guideline Aspecto: Patient_preference Límite: Female / Humans / Male País/Región como asunto: Asia / Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno / Enfermedad del Almacenamiento de Glucógeno Tipo V Tipo de estudio: Guideline Aspecto: Patient_preference Límite: Female / Humans / Male País/Región como asunto: Asia / Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido