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

EUROMAC Consortium

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Article number187
JournalOrphanet Journal of Rare Diseases
Volume15
Issue number1
DOIs
StatePublished - Dec 1 2020
Externally publishedYes

Keywords

  • Glycogen storage disease
  • International registry
  • McArdle disease
  • Metabolic diseases
  • Myopathy
  • Rare diseases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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