enzyme replacement therapy

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…

Getting a toddler to understand things is a hard enough task by itself. However, trying to get my 3-year-old son, Cayden, to understand the things he has to go through due to his Pompe disease is even more challenging. Because of Pompe disease, he has been through more hardships than…

The U.S. Food and Drug Administration (FDA) has approved Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy for late-onset Pompe disease. The medication, administered by infusion into the bloodstream every two weeks, is approved for patients 1 year or older and is expected to be available in the…

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…

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…

Although enzyme replacement infusions were initially very frightening, they have become a part of our routine. My son, Cayden, requires this lifesaving medication due to his infantile Pompe disease. It works by replacing the enzyme that his body cannot make on its own.  For the first…

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…

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…

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…

Newly developed nerve cells derived from patients could be used as a model to study neurological involvement in Pompe disease and test potential therapies, a study reports. Notably, data from these models suggested that a combination of two molecules, which was previously shown to have beneficial effects in models of…