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…
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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…
Switching to Nexviadyme (avalglucosidase alfa) may help stabilize declining walking ability in adults with late-onset Pompe disease whose symptoms worsen despite treatment with Myozyme (alglucosidase alfa), according to a real-world study from France. Researchers found that the group’s decline in walking ability halted during the first year…
Children with Pompe disease receiving enzyme replacement therapy (ERT) generally maintained stable breathing during sleep, although some may continue to experience sleep-related respiratory issues requiring ongoing monitoring, a study in France suggests. Sleep studies showed normal oxygen levels overnight among children with Pompe, while also identifying a small…
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.
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