News

Early immune tolerance induction with rituximab, methotrexate, and intravenous (into-the-vein) immunoglobulin may have prevented twin babies with infantile-onset Pompe disease (IOPD) from developing antibodies against enzyme replacement therapy (ERT), according to a case report from the U.S. The report, “Optimizing clinical outcomes: The journey of twins with CRIM-negative…

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…

A 1-year-old boy with infantile-onset Pompe disease (IOPD) showed improved muscle strength and signs of less heart inflammation four months after receiving gene therapy, according to a case report. The findings in this case were confirmed with cardiac MRI, a noninvasive test that uses radio waves and magnets to…

Difficulty swallowing is a common problem for adults with late-onset Pompe disease (LOPD) and can have a sizeable impact on their quality of life, yet most of these patients aren’t receiving specialty care to address this issue, according to a recent study. Researchers noted that clinicians caring for LOPD…

Several metabolic processes in Pompe disease muscles are altered, according to a detailed examination of gene activity in muscle cells from adults with late-onset Pompe disease (LOPD). The changes, many of which occur in early disease progression, included a switch from energy production based on glucose to fat-like lipids…

Switching from Myozyme (alglucosidase alfa) to Nexviadyme (avalglucosidase alfa) led to gains in motor function and laboratory markers for four children with infantile-onset Pompe disease (IOPD) who took part in a compassionate use program in Italy. One child who’d had persistent heart disease on Myozyme also saw…

Two girls in Colombia with early-onset Pompe disease saw their symptoms improve after methotrexate treatment reduced the levels of antibodies they had developed against enzyme replacement therapy (ERT), according to a case report. ERT antibodies can cause the therapy to stop working. Methotrexate, a chemotherapy, can work as an…

In patients with Pompe disease, treatment with Myozyme (alglucosidase alfa) is most often administered in outpatient settings and is rarely associated with adverse reactions. That’s according to real-world data spanning a little more than seven years in France. The treatment is marketed as Lumizyme in the U.S. Overall,…

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…