ERT

Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…

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…

At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment due to the COVID-19 pandemic. The disease that would come to be called COVID-19 was first reported in the U.S. more than a year ago. As it spread across…

If you have late-onset Pompe disease (LOPD) and are employed, or are considering employment, you’re likely going to need some workplace adjustments, particularly as the disorder progresses. Here’s some information about how Pompe disease might affect your work life. What is Pompe disease? Pompe disease is a debilitating…

Early treatment with enzyme replacement therapy (ERT) and immune tolerance induction (ITI) greatly improved clinical outcomes for infants with the severe, frequently ERT-nonresponsive, CRIM-negative infantile Pompe disease (IPD), a study has found. “Our data suggest that the first few weeks after birth…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Living with a chronic disorder such as late-onset Pompe disease can lead to anxiety, stress, and feelings of isolation. If you have the disease, recreational therapy may help to improve your psychological and physical well-being. What is Pompe disease? Pompe disease is a debilitating and progressive disorder that’s…

If you have late-onset Pompe disease, you likely will need to see many specialists such as pulmonary physicians, cardiologists, and physiotherapists to help you manage the disorder’s different symptoms. To help with muscle weakness and other Pompe disease-related symptoms, it also may be beneficial to add a massage…

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency decision on this next-generation ERT is expected on May 18, 2021, Sanofi…

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile Pompe Disease: a new feature?” was published in the journal Acta Bio Medica. Pompe…