A single dose of a specialized gene therapy has successfully normalized muscle function for more than a year in a mouse model of Pompe disease. By using “data-mined” genetic sequences designed to supercharge enzyme production specifically in muscle cells, researchers achieved protein levels up to 30 times higher than…
treatment
A baby boy with infantile-onset Pompe disease and a severely enlarged heart was treated early with Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy from Sanofi, leading to rapid and sustained improvement of heart function, according to a case report from Japan. “These findings may support the…
Women with late-onset Pompe disease (LOPD) can safely use enzyme replacement therapy (ERT) during pregnancy and breastfeeding, according to a case series. Of the five reported pregnancies from three women, all were uneventful, and all five children breastfed by mothers receiving ERT exhibited normal growth and age-appropriate development.
In the first study of its kind, U.S. researchers showed that focused ultrasound (FUS) could be used to allow approved enzyme replacement therapies (ERTs) — which can not get past the brain’s protective barrier in humans — to enter the brain of a mouse model of Pompe disease.
A viral vector engineered from a duck virus, called AAV.div3A, may offer a way to safely give patients more than one dose of gene therapyaccording to a study. This is something that is largely impossible today, yet critical for diseases requiring early treatment and that may need additional doses over…
Throughout 2025, the team at Pompe Disease News has brought readers updates on emerging treatments, scientific advances, and clinical findings in Pompe disease. Here is a list of the top 5 most-read news stories of this year. We are grateful to have had the opportunity to support people…
The activity levels of Myozyme (alglucosidase alfa) measured in blood and white blood cells may help indicate how well gene therapies are working in people with classic infantile Pompe disease who are receiving enzyme replacement therapy (ERT). That’s according to a study that analyzed the pharmacokinetics of…
For people with late-onset Pompe disease (LOPD) who are diagnosed before developing symptoms, treatment can be delayed until signs of the condition become apparent, but regular monitoring is essential so that therapy is not delayed when it is needed. That’s the argument made by a team of scientists in…
Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment with enzyme replacement therapy (ERT), a real-world study in the U.S. found. Researchers also found a relatively high rate of ERT discontinuation, particularly among people with late-onset Pompe…
Switching from Lumizyme (alglucosidase alfa) to the newer treatment Nexviazyme (avalglucosidase alfa) improved muscle strength and eased airway issues in a young man with late-onset Pompe disease (LOPD). That’s according to a new case report from researchers in Taiwan that detailed the benefits seen with the switch…
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