News

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…

A new noninvasive imaging tool called quantitative muscle ultrasound, or QMUS, can detect progressive muscle disease in people with infantile-onset Pompe disease (IOPD) who are on enzyme replacement therapy (ERT), according to a small study by U.S. researchers. The study found that QMUS correlated with functional status and…

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…

Switching to Nexviazyme (avalglucosidase alfa) was safe and effective in a 12-year-old boy with infantile-onset Pompe disease (IOPD) who developed a strong immune response against Lumizyme (alglucosidase alfa) that affected treatment efficacy. That’s according to a case study in South Korea, which supports the use of Nexviazyme…

A simple, noninvasive breathing intervention that briefly exposes the body to repeated bouts of low oxygen modestly improved breathing in a mouse model of Pompe disease, a study showed. Therapeutic acute intermittent hypoxia (tAIH) led to small but measurable increases in breathing rate, breath size, or the amount of…

A newborn whose symptoms initially mimicked oxygen deprivation was ultimately diagnosed with Pompe disease, highlighting potential challenges in identifying the condition, according to a case report from Italy. This was an uncommon presentation, according to researchers, who described the child’s symptoms, which included an enlarged heart and weak…

A Phase 1b clinical trial testing substrate reduction therapy ABX1100 in late-onset Pompe disease (LOPD) has completed enrollment, developer Aro Biotherapeutics said. This part of the trial (NCT06109948) investigates the medication’s safety, tolerability, and pharmacological profile in adults with LOPD. ABX1100 is given by intravenous (into-the-vein) infusion.