ENMC workshop on Pompe Disease

Category: Archive
October 6, 2014

Formation of a European network to develop a European data sharing model and treatment guidelines for Pompe disease

October 6th, 1014 in Naarden, The Netherlands

This workshop was co-sponsored by the Dutch ZonMw, Genzyme Europe BV, the International Pompe Association, Amicus Therapeutics and BioMarin Europe Ltd.


Pompe disease is a rare inheritable muscle disorder for which since 2006 enzyme replacement therapy (ERT) is available. Studies in infants showing improved survival were key to the market approval of this drug. Since 2006 several studies in children and adults have also shown effects of this treatment. Harmonized criteria to start or stop ERT for the whole spectrum of patients with Pompe disease are needed.

This workshop brought together a panel of physicians and researchers from various European countries with clinical experience in treating and following larger groups of patients with Pompe disease, or doing research in this disorder, as well as Wilma Treur, patient representative from the IPA.

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