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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

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@article{53d191cdebfb451489c6213e843cb8cb,
title = "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-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 = "Glycogen storage disease, International registry, McArdle disease, Metabolic diseases, Myopathy, Rare diseases",
author = "Tom{\`a}s Pin{\'o}s and Andreu, {Antoni L} and Claudio Bruno and Hadjigeorgiou, {Georgios M} and Haller, {Ronald G} and Pascal Lafor{\^e}t and Alejandro Luc{\'i}a and Mart{\'i}n, {Miguel A} and Andrea Martinuzzi and Carmen Navarro and Piraye Oflazer and Jean Pouget and Ros Quinlivan and Sabrina Sacconi and Scalco, {Renata S} and Antonio Toscano and John Vissing and Matthias Vorgerd and Andrew Wakelin and Ramon Mart{\'i} and {EUROMAC Consortium}",
year = "2020",
month = oct,
day = "15",
doi = "10.1186/s13023-020-01455-z",
language = "English",
volume = "15",
pages = "187",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd",
number = "1",

}

RIS

TY - JOUR

T1 - Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

AU - Pinós, Tomàs

AU - Andreu, Antoni L

AU - Bruno, Claudio

AU - Hadjigeorgiou, Georgios M

AU - Haller, Ronald G

AU - Laforêt, Pascal

AU - Lucía, Alejandro

AU - Martín, Miguel A

AU - Martinuzzi, Andrea

AU - Navarro, Carmen

AU - Oflazer, Piraye

AU - Pouget, Jean

AU - Quinlivan, Ros

AU - Sacconi, Sabrina

AU - Scalco, Renata S

AU - Toscano, Antonio

AU - Vissing, John

AU - Vorgerd, Matthias

AU - Wakelin, Andrew

AU - Martí, Ramon

AU - EUROMAC Consortium

PY - 2020/10/15

Y1 - 2020/10/15

N2 - 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.

AB - 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.

KW - Glycogen storage disease

KW - International registry

KW - McArdle disease

KW - Metabolic diseases

KW - Myopathy

KW - Rare diseases

UR - http://www.scopus.com/inward/record.url?scp=85092630248&partnerID=8YFLogxK

U2 - 10.1186/s13023-020-01455-z

DO - 10.1186/s13023-020-01455-z

M3 - Journal article

C2 - 33054807

VL - 15

SP - 187

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 1

M1 - 187

ER -

ID: 61072032