Author Archives: Patricia Inacio PhD

EU Approval Urged for New Sanofi ERT Avalglucosidase Alfa

A committee of the European Medicines Agency (EMA) has recommended the approval of avalglucosidase alfa, a next-generation enzyme replacement therapy (ERT) developed by Sanofi Genzyme, for people with Pompe disease. That recommendation, by the Committee for Medicinal Products for Human Use (CHMP), paves the way for marketing authorization to be granted by…

New GAA Mutations ID’d as Cause of Late-onset Disease

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…

Upcoming International Pompe Day Aims to Raise Awareness

In an effort to raise public awareness and increase understanding of Pompe disease, the 8th Annual International Pompe Day will be celebrated on April 15. This year’s theme is “Pompe Around the World,” the International Pompe Association (IPA) announced. The event’s slogan is “Together We Are Strong.” “The…