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

SUBMITTER: Pinos T 

PROVIDER: S-EPMC7558742 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature