classic infantile-onset Pompe disease

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…

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…

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),…

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…

Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…

I still remember the phone call as if it were frozen in time. It was mid-morning, and I was in bed feeding my newborn, Caroline. With the shades slightly drawn, just a sliver of light crept in, letting us both cozy up and drift off. Caroline was only a week…

The activity levels of Myozyme (alglucosidase alfa) measured in blood and white blood cells may help indicate how well gene therapies are working in people with classic infantile Pompe disease who are receiving enzyme replacement therapy (ERT). That’s according to a study that analyzed the pharmacokinetics of…

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…

Switching to Nexviazyme (avalglucosidase alfa) was safe and effective in a 12-year-old boy with infantile-onset Pompe disease (IOPD) who developed a strong immune response against Lumizyme (alglucosidase alfa) that affected treatment efficacy. That’s according to a case study in South Korea, which supports the use of Nexviazyme…