General objective: The implementation of an EU registry of patients with McArdle disease and very rare muscle glycogenolytic disorders (MGD) with exercise intolerance as the major symptom (PR-MDMGD). A web portal, with public and intranet access will support the registry and the dissemination of information on these rare diseases. The main aim of this project will be to improve health outcomes while at the same time reducing health and social care costs by disseminating knowledge. In these patients delayed diagnosis and incorrect advice leads to debilitating symptoms and increased risk of life-threatening crises necessitating admission to critical care. All of which can be prevented by correct medical care.
Strategic relevance &contribution to the programme: The project will address the lack of data available on diagnosis and treatment of McArdle disease and MGD. By registering patient data from at least 8 European countries and moving towards a wider global patient registry, access and quality of care for patients across Europe will be improved which is highly relevant to the EU.
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