LOPD Diagnosis of Newborns Requires Support for Parents

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for…

Brain Blood Flow Changes May Be Complication of LOPD

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

Enlarged Tongue Leads to Severe Symptoms in Elderly LOPD Patients

Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study. Treatment with enzyme-replacement therapy (ERT), a standard of care for Pompe patients, did not alleviate the debilitating symptoms,…

Muscle Function Improves With Resistance Exercise Program: Study

A program of supervised resistance exercise can improve muscle function — including in muscles needed to breathe — for adults with late onset Pompe disease (LOPD), a small study suggests. “Our findings encourage use of supervised exercise and inspiratory muscle training for improving physical function and health to improve…

#MDA2022 – Gene Therapy ACT-101 Boosts GAA Levels in Early Trial

The investigational gene therapy ACT-101 overall was well-tolerated among three people with late-onset Pompe disease (LOPD) who were treated in a Phase 1/2 clinical trial. Moreover, the trial results also showed that treatment markedly increased levels of the GAA enzyme — deficient in Pompe disease — in the patients’ muscle…