classic infantile-onset Pompe disease

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…

Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy. “The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,”…

An experimental gene therapy known as GC301 improved motor function and cardiac outcomes for three out of four infants with infantile-onset Pompe disease (IOPD) in a small clinical trial. The treatment was also well tolerated. One year after treatment, these three participants had reached milestones such as…

Involvement in the brain and spinal cord’s white matter is common in Pompe disease, particularly in the infantile-onset form, according to a review of published studies. Other affected parts of the brain and spinal cord, or central nervous system (CNS), were the gray matter and blood vessels in the…

A desensitization protocol allowed doctors to successfully treat an infant with classic infantile-onset Pompe disease (IOPD) who developed an allergic reaction to Myozyme (alglucosidase alfa), according to a report. The protocol, which was also used when the patient switched to Nexviadyme (avalglucosidase alfa), involved delivering the Pompe…