News

The accumulation and abnormal location of proteins involved in repairing cell membranes and muscle may represent biological markers of Pompe disease progression, according to a study. Specifically, changes in the molecular repair pathways may help prevent the activation of satellite cells (SCs). SCs typically drive muscle growth and regeneration.

Treatment with Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy from Sanofi, may help babies with infantile-onset Pompe disease live longer without the need for a breathing machine. Those are the “positive results” seen with the therapy’s use in a late-stage clinical study dubbed Baby-COMET (NCT04910776),…

Activating a protein called TRPML1 with two experimental drugs improved the effects of enzyme replacement therapy (ERT) in cells derived from people with Pompe disease, a new study shows. Boosting TRPML1 increased the amount and cell-surface availability of M6PR, a receptor that acts as a “docking station” to…

Quantitative MRI (qMRI) may detect muscle changes in people with late-onset Pompe disease (LOPD) before clear declines are seen on standard clinical tests, a study found. The study also revealed that MRI changes tracked with measures of muscle strength, physical function, and patient-reported symptoms over two years of follow-up.

An MRI study found that children with classic infantile-onset Pompe disease show more widespread involvement of the lower leg muscles than young people with the late-onset form, who tend to have greater involvement of the thigh muscles. A technique called T2water mapping detected abnormalities in muscles where fat replacement…

Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…

Combining the allergy medicine omalizumab with a desensitization protocol helped a 40-year-old woman with Pompe disease overcome a persistent allergic reaction to enzyme replacement therapy (ERT), according to a case report. People with Pompe disease who experience hypersensitivity, or allergic reactions, to ERT often undergo desensitization, a strategy…

A middle-aged woman with late-onset Pompe disease (LOPD) developed damage to her sensory nerve cells after receiving the gene therapy candidate AT845 — in development as a Pompe disease treatment — in a clinical trial, according to a new case report. While the woman’s symptoms, particularly reduced sensations…

The first patient has been dosed in a Phase 1/2 clinical trial testing AB-1009, Askbio’s investigational gene therapy for late-onset Pompe disease (LOPD), the company said. The trial, PROGRESS-GT LOPD (NCT07282847), primarily aims to assess the therapy’s safety in up to 12 adults with LOPD, aged 18 and…

Heart problems in late-onset Pompe disease appear milder and less specific than in the disease’s infantile-onset form, a review study found. While heart scans can detect these changes, further research is needed to fully understand them, according to the researchers, who reviewed data from 11 previous studies. “Knowledge of…