News

Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed to confirm these findings and “to obtain more…

The number of people with Pompe disease varies according to ethnic group and may be higher among all ethnicities than previously estimated, a study suggests. According to the investigator, the study stresses the importance of analyzing genetic disorders in the general population to improve predictive and preventive medicine. “With this…

Amicus Therapeutics anticipates completing a rolling application by mid-year to seek approval of its investigational therapy AT-GAA for late-onset Pompe disease in the U.S. The announcement follows a pre-filing meeting with the U.S. Food and Drug Administration (FDA). The rolling biologics license application (BLA), initiated in…

The U.S. Food and Drug Administration (FDA) has extended by three months its review of Sanofi Genzyme‘s application seeking approval of avalglucosidase alfa, its next-generation enzyme replacement therapy (ERT) for Pompe disease. The date for an agency decision regarding approval, previously set for May 18, is now Aug. 18. “Sanofi…

Fat replacement of back, abdominal, and trunk muscles in late-onset Pompe disease (LOPD) correlates with diaphragm weakness and worsening respiratory function, a long-term clinical study has determined. “These results suggest that identification of fat replacement in these areas … should…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Administration of 3,4-diaminopyridine phosphate (3,4-DAPP) eased problems at the neuromuscular junction (NMJ) — sites of nerve-muscle communication — in a zebrafish model of Pompe disease. Results suggest that the medication, also known as amifampridine and approved under the brand names …

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

The first patient has been dosed in the FORTIS Phase 1/2 trial of AT845, a single-dose gene therapy for adults with late-onset Pompe disease (LOPD). AT845 is designed to deliver a healthy copy of the gene that encodes the enzyme acid alpha-glucosidase (GAA) directly to…

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…