GP 245: Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders

Abstract

The European Union has funded the development of a new disease registry for McArdle disease and other rare glyco (geno) lytic disorders presenting with exercise intolerance. The aim of the project is to identify as many patients as possible across all European countries and to collect important natural history and epidemiological data. Clinicians working in the European Union (EU) and patients with McArdle disease or other rare glyco (geno) lytic disorders presenting with exercise intolerance from the EU are able to participate in this project. Registration is via a secure web platform accessed through the EUROMAC website http://euromacregistry.eu/. Both patients and doctors will need to supply epidemiological and clinical information. Data will be anonymised to ensure participants’ protection. We hope to create the largest international cohort of people with such rare conditions. Data on epidemiology and natural history will be generated, supporting knowledge about these rare disorders. We hope to increase awareness of these disorders and the website will signpost patients and clinicians to diagnostic and clinical centres of excellence across Europe. We plan to develop standards of care which will be posted on the website and we hope that the registry will be the gateway to future large scale multi-centre clinial trials. The EUROMAC is an international registry for patients with McArdle disease and other rare glyco (geno) lytic