Technology

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.

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…

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…

Wearable digital health technologies (DHTs) may help identify subtle walking and movement impairments in people with late-onset Pompe disease (LOPD) that are not evident in standard clinical evaluation, a recent study in Italy shows. These technologies “may have important implications for management, follow-up, and treatment decisions in clinical practice,”…

GlycoNOE, a non-invasive form of MRI, detected glycogen accumulation in the muscles of a Pompe disease mouse model, demonstrating its potential as a noninvasive tool to directly assess disease severity and treatment response in patients, according to a study. The approach “holds great potential to facilitate pre-clinical and clinical studies…

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…

Dyne Therapeutics has unveiled promising preclinical data for its enzyme replacement therapy (ERT) FORCE-GAA — part of the company’s propriety FORCE platform — designed to treat Pompe disease. The novel therapy has demonstrated the potential to deliver the treatment directly to skeletal and heart muscles, as well…

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…

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…

Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).