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Enzyme replacement therapy for Pompe disease — a standard treatment for the rare genetic condition — can be safely continued during pregnancy and breastfeeding, a new study indicates. In the small European study, the use of any of several approved treatments did not result in adverse effects in the…

Electrical impedance myography (EIM), a painless, noninvasive test that sends a small electrical current through a muscle, may help doctors measure the severity of Pompe disease, especially in children, because its results closely match what is seen in MRI and physical tests, according to a study. “EIM may represent…

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…