More attention should be given to evaluating the gastrointestinal symptoms of individuals with late-onset Pompe disease (LOPD) because they cause a significant disease burden, according to a recent study. The results of that study highlight the need for more effective smooth muscle-targeted therapies in LOPD, as current treatments often…

Sanofi Genzyme’s next-generation enzyme replacement therapy (ERT), avalglucosidase alfa, safely halts disease progression in people with Pompe disease, according to interim data from two Phase 2 clinical trials. The trial’s results were the focus of oral and poster presentations at the 16th Annual WORLDSymposium, held…

People with late-onset Pompe disease (LOPD) have lower dynamic diaphragm function and altered endurance and strength during inhalation, but they show some compensatory mechanisms to preserve air volume, according to a recent study. These findings, which were achieved using dynamic — rather than the standard, static — lung function…

A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…

Wearable technology that quantifies daily physical activity, such as FitBit One, can help determine mobility patterns and evaluate the clinical status of people with late-onset Pompe disease, a study shows. The study, “Mobility assessment using wearable technology in patients with late-onset Pompe disease,” was published…