Lindsey Shapiro, PhD,  science writer—

The combination therapy Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) may help overcome some of the limitations of standard enzyme replacement therapies (ERT) for treating late-onset Pompe disease (LOPD), according to a recent presentation. Like other ERTs, Pombiliti + Opfolda contains a lab-made version of the enzyme that LOPD patients…

A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish…

A therapeutic approach designed to correct the cellular defect caused by a common mutation in people with late-onset Pompe disease (LOPD) worked as intended to increase activity of the acid alpha glucosidase (GAA) enzyme in lab studies, according to a study. People with Pompe disease are lacking in…

Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) may offer significant advantages over earlier forms of enzyme replacement therapy (ERT) for Pompe disease, according to an analysis of preclinical and clinical data. Researchers reviewed all available data about the combination therapy’s mechanism and therapeutic effects and determined that it can overcome challenges…

Most children and adolescents with Pompe disease adapted well to living with the chronic condition and had generally good emotional well-being, according to a small interview study involving patients and caregivers in Europe. Still, patients reported frustrations related to physical disabilities and their social impacts, as well as the…

A new noninvasive imaging technique was found to be better than standard approaches like MRI or ultrasound for visualizing diseased muscles in people with late-onset Pompe disease (LOPD), according to a recent study. The technique, called multispectral optoacoustic tomography (MSOT), uses light and sound waves to visualize the deeper…

Damage to the blood vessels in the brain is a common but under-recognized manifestation of late-onset Pompe disease (LOPD), according to a recent study from China. Among a small group of LOPD patients, various abnormalities were observed that affected both small and large blood vessels. Given the observed prevalence…

Quantitative MRI (qMRI) imaging of the muscles is a useful technique for identifying signs of compromised muscle health in people with neuromuscular conditions like Pompe disease, according to a small study. The study identified specific patterns of qMRI changes in the thigh muscles of people with late-onset Pompe…

Dysfunction of the phrenic nerve, which is important for controlling breathing, was observed in a small study of late-onset Pompe disease (LOPD) patients who had ongoing respiratory dysfunction despite enzyme replacement therapy (ERT). “Our study provide new insights regarding respiratory mechanisms in LOPD,” the researchers wrote. Should their…

A powerful imaging technique called high-resolution intravital microscopy, or IVM, may be a useful tool for visualizing and quantifying the effectiveness of investigational treatments in mouse models of Pompe disease, according to recent research. The approach allows for cellular changes in muscles to be visualized in live animals. Using…