Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Glycogen storage disease
International registry
McArdle disease
Metabolic diseases
Myopathy
Rare diseases
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
15 10 2020
15 10 2020
Historique:
received:
21
04
2020
accepted:
29
06
2020
entrez:
15
10
2020
pubmed:
16
10
2020
medline:
19
5
2021
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 33054807
doi: 10.1186/s13023-020-01455-z
pii: 10.1186/s13023-020-01455-z
pmc: PMC7558742
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
187Investigateurs
Antoni L Andreu
(AL)
Ramon Martí
(R)
Tomàs Pinós
(T)
Noemi Baruch
(N)
Francisco J Ortega
(FJ)
Miguel A Martín
(MA)
Carmen Navarro
(C)
Beatriz San-Millán
(B)
Irene Vieitez
(I)
Andrea Martinuzzi
(A)
Marinela Vavla
(M)
Claudio Bruno
(C)
Antonio Toscano
(A)
Olimpia Musumeci
(O)
Pascal Laforêt
(P)
Sabrina Sacconi
(S)
Ros Quinlivan
(R)
Renata Scalco
(R)
Andrew Wakelin
(A)
Georgios Hadjgeorgiou
(G)
Elias Zintzaras
(E)
John Vissing
(J)
Matthias Vorgerd
(M)
Enrico Zülow
(E)
Ronald Haller
(R)
Piraye Oflazer
(P)
Hacer Durmus
(H)
Jean Pouget
(J)
Alejandro Lucía
(A)
Alfredo Santalla
(A)
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