classic infantile-onset Pompe disease

Researchers created and characterized an infantile-onset Pompe disease (IOPD) mouse model that carried a genetic defect commonly found among people with Southern Han Chinese ancestry, a study reported. The model recapitulated most of the signs and symptoms of IOPD and, according to researchers, is ideal to evaluate potential IOPD…

MRI scans of people with classic infantile Pompe disease showed a change in the microscopic structure of certain brain regions — but no damage was seen in patients with the late-onset form of the disease, a new study reports. “We conclude that, while no deviations from typical neurodevelopment were…

An MRI-based study found that progression of white matter involvement in the brain among patients with infantile-onset Pompe disease (IOPD) occurred at different rates and correlated with cognitive decline — despite ongoing treatment. White matter abnormalities also were tied to elevated bloodstream levels of the neurofilament light chain (NfL)…

Newborn screening for Pompe disease is feasible at large scale and can facilitate early treatment with better outcomes for babies with infantile-onset disease, according to a new study from Italy — the largest of its kind in Europe. The study, “Newborn screening for Pompe disease in…

A 1-year-old toddler with infantile-onset Pompe disease has normal heart and motor function and is growing well after receiving in-utero enzyme replacement therapy (ERT) with Lumizyme (alglucosidase alfa) and standard postnatal immunotherapy, according to a report. The successful outcome with Ayla is the result of the first in-utero use…

A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…

At my 4-year-old son Cayden’s last appointment with the otolaryngologist (ears, nose, and throat doctor, or ENT), the doctor and I decided that we should look into getting a new set of tubes for Cayden’s ears. Cayden, who has infantile-onset Pompe disease, showed signs of mild hearing loss during…

Enzyme replacement therapy (ERT) given as early as possible may lead to better outcomes in children with classic infantile-onset Pompe disease (IOPD), according to a long-term study conducted in Taiwan. “Our study demonstrates that administering ERT as soon as feasible and employing short-term hydrocortisone premedication leads to better…

It all starts with the dreaded cough and snotty nose. Next thing you know, you’re rushing your child to the doctor to make sure they’re OK. These days, most parents don’t get too worried about a common cold, unless COVID-19 is a concern. But once that’s ruled out, things…

A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…