News

Combination therapy Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) may help people with late-onset Pompe disease (LOPD) walk farther and breathe better compared with Nexviazyme (avalglucosidase alfa), particularly if they’ve been on enzyme replacement therapy for longer, according to a meta-analysis of clinical trials and real-world data. The study, “…

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…

Late-onset Pompe disease (LOPD) patients who received severely under-dose treatment with enzyme replacement therapy (ERT) had a decline in physical quality of life, but an improvement in overall health, during a 14-month follow-up, a study in China shows. Being employed or enrolled in school predicted improved mental quality…

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…