Disease progression

When you raise a child with a rare disease, it is easy to become consumed by your own version of that disease. You learn your child’s numbers, memorize the medical terminology, track appointments, and pay attention to every change that might mean something. You become familiar with the research, 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…

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.

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…

Certain immune cells in people with late-onset Pompe disease (LOPD) show abnormal activation that may be linked to differences in how patients respond to treatment, a new study suggests. Researchers found that T-cells, a type of immune cell that helps coordinate the body’s response to infections and other threats,…

Measuring levels of glucose tetrasaccharide (Glc4) in urine may offer a simple, noninvasive way to identify people with late-onset Pompe disease (LOPD) who are at higher risk of worsening muscle decline, even while receiving enzyme replacement therapy (ERT). That’s according to a real-world analysis…

A baby boy with infantile-onset Pompe disease and a severely enlarged heart was treated early with Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy from Sanofi, leading to rapid and sustained improvement of heart function, according to a case report from Japan. “These findings may support the…

For people with late-onset Pompe disease (LOPD) who are diagnosed before developing symptoms, treatment can be delayed until signs of the condition become apparent, but regular monitoring is essential so that therapy is not delayed when it is needed. That’s the argument made by a team of scientists in…

A new noninvasive imaging tool called quantitative muscle ultrasound, or QMUS, can detect progressive muscle disease in people with infantile-onset Pompe disease (IOPD) who are on enzyme replacement therapy (ERT), according to a small study by U.S. researchers. The study found that QMUS correlated with functional status and…