infantile-onset Pompe

Last week, my two sons — Cayden, 6, and Kyree, 18 months — and I had our routine checkup at the dentist. I’m happy to report that no one had cavities! Luckily, my boys enjoy brushing their teeth and never go to bed without reminding me to get their…

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…

Researchers in the U.S. used a gene-editing tool in the lab to correct mutations known to cause infantile-onset Pompe disease, and this enabled patient-derived cells to produce a working version of the acid alpha-glucosidase (GAA) enzyme they lacked. The approach “may offer an efficacious, long-term therapy,” the researchers wrote,…

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to young adulthood in classic infantile-onset Pompe disease (IOPD) patients given enzyme replacement therapy (ERT), a study shows. This contrasted significantly with the blood NfL level reduction seen in…

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…

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)…

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…

Enzyme replacement therapy (ERT) was effective in a newborn with infantile-onset Pompe disease (IOPD) who developed treatment antibodies and had low blood levels of a type of immune cell called neutrophils, according to a case report. Researchers stressed the importance of including Pompe disease in newborn screening programs…

I can remember my 4-year-old son’s first surgery like it was yesterday. Cayden was just shy of 2 months old when I watched the anesthesia team wheel away my tiny baby. It was the first of many surgeries for him, but also one of the hardest. We opted to…

Lower urinary tract symptoms, including a loss of bladder control and unusual urine flow, are prevalent among children with classic infantile-onset Pompe disease (IOPD) who begin treatment early with enzyme-replacement therapy (ERT), according to a small study. Findings suggest that “pediatricians should actively seek to recognize children with IOPD…