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.
News
The U.S. Food and Drug Administration (FDA) has cleared AskBio’s investigational new drug application for AB-1009, a potential one-time gene therapy being developed for late-onset Pompe disease (LOPD). The clearance enables the therapy to proceed to a Phase 1/2 clinical trial (NCT07282847)…
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…
Late-onset Pompe disease (LOPD), a rare, inherited muscle disorder, was finally diagnosed in a 52-year-old man in Austria after decades of misdiagnosis, a case study shows. The condition had long been hidden by overlapping symptoms of dermatomyositis, an autoimmune disorder. Only after treatment for the autoimmune disease failed to…
The buildup of the complex sugar glycogen, the main cause of muscle damage in late-onset Pompe disease (LOPD), can be detected in people with the condition long before visible symptoms appear, researchers in Denmark found. Using an advanced imaging technique capable of measuring glycogen inside muscles —a test that…
Parents face significant anxiety and uncertainty after their newborn screens positive for a lysosomal storage disorder (LSD) like Pompe disease, but these emotions usually resolve over time once families receive clear, comprehensive information, a new study finds. However, researchers warn that this anxiety often persists in parents whose children…