Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
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Published:2020-10-15
Issue:1
Volume:15
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
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 RamonORCID, Andreu Antoni L., Martí Ramon, Pinós Tomàs, Baruch Noemi, Ortega Francisco J., Martín Miguel A., Navarro Carmen, San-Millán Beatriz, Vieitez Irene, Martinuzzi Andrea, Vavla Marinela, Bruno Claudio, Toscano Antonio, Musumeci Olimpia, Laforêt Pascal, Sacconi Sabrina, Quinlivan Ros, Scalco Renata, Wakelin Andrew, Hadjgeorgiou Georgios, Zintzaras Elias, Vissing John, Vorgerd Matthias, Zülow Enrico, Haller Ronald, Oflazer Piraye, Durmus Hacer, Pouget Jean, Lucía Alejandro, Santalla Alfredo,
Abstract
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.
Funder
Consumers, Health and Food Executive Agency Instituto de Salud Carlos III CIBERER
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
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