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22/05/2013

Dr. Ramon Martí leads a European Project on McArdle Disease

2013_0129_2013_0129_IMATGE

22/05/2013

Over the next three years, a registry of patients affected by this rare disease will be created

Dr. Ramon Martí, head of the Neuromuscular and Mitochondrial Pathology group at Vall d'Hebron Institute of Research (VHIR), is the coordinator of the newly-awarded European Project EUROMAC, a joint effort of 20 partners spread across 7 European Countries, Turkey and the U.S.A. The project aims at bringing forward the knowledge on McArdle Disease, a rare neuromuscular disorder. This will be done by creating a registry of patients affected by this disease. The project kicked off the 14th of May in Luxembourg, when partners sat together with one representative of the European Commission to plan the work to be done over the next 3 years. After this period, Dr. Martí assures that "researchers could start the investigation to deepen the knowledge of the disease thanks to the data collected by this registry". EUROMAC boasts itself with the unique expertise in complementary fields such as genetics and neuroscience, together with a considerable outreach potential, ensured by the active participation of the "http://www.agsd.org.uk/" British Association for Glycogen Storage Disease, which has extensive experience in training and dissemination activities to the lay public, and most importantly, to patients affected by various forms of Glycogenoses. McArdle’s Disease is a metabolic disease affecting skeletal muscle. It is an inherited condition, caused by a missing or non-functioning enzyme needed to make available glucose for energy. Because of that, individuals with McArdle’s disease may experience fatigue and failure during strenuous activities like jogging, swimming or even walking. To date, there is no treatment for this disease that only in Spain affects more than 200 people, according to the Spanish patient registry of McArdle disease, involving VHIR, Hospital 12 de Octubre, Hospital Meixoeiro de Vigo and Universidad Europea de Madrid. Nonetheless, EUROMAC will deal in fact not only with the McArdle Disease, but it will also extend the registry to other types of rare muscular glycogenoses, and it will hopefully become a reference point in the study of this type of rare diseases.This European project coordinated at VHIR is funded with 911.578 euros.

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