Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Abstract 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-ba...
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| Format: | Article |
| Language: | English |
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BMC
2020-10-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01455-z |
| _version_ | 1818882097110056960 |
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| author | Tomàs Pinós Antoni L. Andreu Claudio Bruno Georgios M. Hadjigeorgiou Ronald G. Haller Pascal Laforêt Alejandro Lucía Miguel A. Martín Andrea Martinuzzi Carmen Navarro Piraye Oflazer Jean Pouget Ros Quinlivan Sabrina Sacconi Renata S. Scalco Antonio Toscano John Vissing Matthias Vorgerd Andrew Wakelin Ramon Martí EUROMAC Consortium |
| author_facet | Tomàs Pinós Antoni L. Andreu Claudio Bruno Georgios M. Hadjigeorgiou Ronald G. Haller Pascal Laforêt Alejandro Lucía Miguel A. Martín Andrea Martinuzzi Carmen Navarro Piraye Oflazer Jean Pouget Ros Quinlivan Sabrina Sacconi Renata S. Scalco Antonio Toscano John Vissing Matthias Vorgerd Andrew Wakelin Ramon Martí EUROMAC Consortium |
| author_sort | Tomàs Pinós |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-19T15:12:20Z |
| format | Article |
| id | doaj.art-4fb930dc3b684799bae389fdc920b237 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-19T15:12:20Z |
| publishDate | 2020-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-4fb930dc3b684799bae389fdc920b2372022-12-21T20:16:15ZengBMCOrphanet Journal of Rare Diseases1750-11722020-10-0115111110.1186/s13023-020-01455-zCreation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)Tomàs Pinós0Antoni L. Andreu1Claudio Bruno2Georgios M. Hadjigeorgiou3Ronald G. Haller4Pascal Laforêt5Alejandro Lucía6Miguel A. Martín7Andrea Martinuzzi8Carmen Navarro9Piraye Oflazer10Jean Pouget11Ros Quinlivan12Sabrina Sacconi13Renata S. Scalco14Antonio Toscano15John Vissing16Matthias Vorgerd17Andrew Wakelin18Ramon Martí19EUROMAC ConsortiumBiomedical 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 BarcelonaBiomedical 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 BarcelonaCenter of Translational and Experimental Myology, IRCCS Istituto Giannina GasliniDepartment of Neurology, Laboratory of Neurogenetics, University of ThessalyNeuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian HospitalNord/Est/Ile de France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, AP-HPFaculty of Sport Sciences, Universidad Europea de MadridBiomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and 12 de Octubre University Hospital Research Institute, (‘imas12’)Department of Conegliano-Pieve di Soligo, IRCCS Eugenio Medea-Associazione “La Nostra Famiglia” Scientific InstituteInstitute of Biomedical Research of VigoDepartment of Neurology, Neuromuscular Unit, Istanbul UniversityCentre de Référence Maladies Neuromusculaires, Assistance Publique-Hopitaux de MarseilleMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National HospitalUniversity of NiceMRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National HospitalNeurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of MessinaRigshospitalet, University of CopenhagenHeimer Institute for Muscle Research, University Hospital Bergmannsheil BochumAssociation for Glycogen storage DiseaseBiomedical 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 BarcelonaAbstract 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.http://link.springer.com/article/10.1186/s13023-020-01455-zMyopathyRare diseasesInternational registryMcArdle diseaseMetabolic diseasesGlycogen storage disease |
| spellingShingle | Tomàs Pinós Antoni L. Andreu Claudio Bruno Georgios M. Hadjigeorgiou Ronald G. Haller Pascal Laforêt Alejandro Lucía Miguel A. Martín Andrea Martinuzzi Carmen Navarro Piraye Oflazer Jean Pouget Ros Quinlivan Sabrina Sacconi Renata S. Scalco Antonio Toscano John Vissing Matthias Vorgerd Andrew Wakelin Ramon Martí EUROMAC Consortium Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Orphanet Journal of Rare Diseases Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
| title | Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) |
| title_full | Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) |
| title_fullStr | Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) |
| title_full_unstemmed | Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) |
| title_short | Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) |
| title_sort | creation and implementation of a european registry for patients with mcardle disease and other muscle glycogenoses euromac registry |
| topic | Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
| url | http://link.springer.com/article/10.1186/s13023-020-01455-z |
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