treatment

Newly approved Nexviazyme (avalglucosidase alfa) is a next-generation, alternative enzyme replacement therapy for late-onset Pompe disease patients starting at age 1. In clinical trials that supported the Aug. 6 approval by the U.S. Food and Drug Administration (FDA), meaningful improvements in respiratory muscle strength and mobility were evident in patients given…

More attention should be given to evaluating the gastrointestinal symptoms of individuals with late-onset Pompe disease (LOPD) because they cause a significant disease burden, according to a recent study. The results of that study highlight the need for more effective smooth muscle-targeted therapies in LOPD, as current treatments often…

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…

Once a week, my 3-year-old son, Cayden, receives a six-and-a-half-hour infusion for his infantile-onset Pompe disease. I’ve previously shared a look inside his home infusions. However, some people wonder how we can keep my son entertained and content for such a long period of time. As Cayden has…

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…

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients in the U.K. through an early access program before its potential regulatory approval. Eligible patients are adults who have received the enzyme replacement therapy (ERT) alglucosidase alfa — the…

One of the first tests my son had as a newborn was called a newborn screening test. This simple yet important blood sample is what started our journey with Pompe disease. The disease was added to Pennsylvania’s newborn screening panel one year before Cayden…