Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EURO
- PDF / 577,012 Bytes
- 11 Pages / 595.276 x 790.866 pts Page_size
- 3 Downloads / 122 Views
(2020) 15:187
RESEARCH
Open Access
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Tomàs Pinós1, Antoni L. Andreu1, Claudio Bruno2, Georgios M. Hadjigeorgiou3, Ronald G. Haller4, Pascal Laforêt5,6, Alejandro Lucía7,8, Miguel A. Martín8, Andrea Martinuzzi9, Carmen Navarro10, Piraye Oflazer11, Jean Pouget12, Ros Quinlivan13, Sabrina Sacconi14, Renata S. Scalco13, Antonio Toscano15, John Vissing16, Matthias Vorgerd17, Andrew Wakelin18, Ramon Martí1* and EUROMAC Consortium
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. Keywords: Myopathy, Rare diseases, International registry, McArdle disease, Metabolic diseases, Glycogen storage disease
* Correspondence: [email protected] 1 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 Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are in
Data Loading...
