News

Using a short course of low-dose methotrexate, an immunosuppressive agent, alongside enzyme replacement therapy (ERT) in people with Pompe disease may help prevent the formation of antibodies that can reduce treatment effectiveness. That’s the key finding of a new study by Duke University researchers, who found that…

Long-term treatment with the combination therapy Pombiliti + Opfolda (cipaglucosidase alfa and miglustat) helps people with late-onset Pompe disease preserve their walking ability and lung function for at least five years, new clinical trial data show. Biomarin Pharmaceutical, which markets Pombiliti + Opfolda after acquiring the…

In late-onset Pompe disease (LOPD), damage to muscles starts before visible changes appear, gradually progressing from stress to inflammation, scarring (fibrosis), and attempts at remodeling and repair, according to a small European study. “These findings indicate that [disease-associated] remodelling in Pompe muscle begins before [muscle damage becomes] morphologically evident…

People with infantile-onset Pompe disease (IOPD) may develop breathing issues during nighttime sleep even if they start enzyme replacement therapy (ERT) very early in life and don’t show obvious declines in daytime respiratory function or motor abilities, a long-term study in Taiwan suggested. Researchers who followed 16 people…

Newborn screening (NBS) for Pompe disease in North Carolina identified more babies with presumed late-onset Pompe disease (LOPD) than previous estimates suggested, a study found. Among more than 228,000 newborns screened over 20 months, 52 tested positive for possible Pompe. After additional testing, about one-third were ultimately classified…

More than 8 in 10 people with late-onset Pompe disease (LOPD) reported chronic nociceptive musculoskeletal pain, or pain affecting the muscles, bones, and surrounding tissues caused by damage or strain, a new study found. However, pain was not associated with muscle weakness, walking ability, or structural changes in the…

A lung function test called intrabreath oscillometry may detect abnormalities related to late-onset Pompe disease (LOPD) that standard breathing tests would miss, a new study shows. Findings suggest that intrabreath oscillometry may be more reliable than a standard test called spirometry at detecting weakened chest muscles in people with…

Home infusions of enzyme replacement therapy (ERT) are safe for children with Pompe disease after an initial period of hospital-based treatment, a Dutch study spanning more than 20 years found. Infusion-associated reactions occurred in fewer than 5% of nearly 12,000 infusions, and most were mild. About half of…

Changes in the brain and spinal cord may begin early in children with classic infantile-onset Pompe disease, years before they become apparent on brain scans, blood tests, or cognitive assessments, according to a review of data from published studies. Researchers found widespread buildup of glycogen — the complex sugar…

A single dose of GC301, a gene therapy candidate in the pipeline at Beijing Genecradle Therapeutics, reduced the need for regular enzyme replacement therapy (ERT) for children older than 1 year with infantile-onset Pompe disease (IOPD), new study data show. For the children in the small study…