late-onset Pompe disease (LOPD)

Long-term treatment with Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat) safely improved motor function and stabilized or enhanced lung function in adults with late-onset Pompe disease (LOPD), according to newly published data from two clinical trials. Pompe disease is marked by a deficiency in an enzyme called acid alpha-glucosidase…

An easy survey of 20 questions agrees well with other tools used in clinical practice to measure physical function in people with late-onset Pompe disease (LOPD), according to a study that suggests it may aid in measuring and tracking symptoms over time. Having a reliable way to measure physical…

Amicus Therapeutics has been honored with the WORLDSymposium 2024 New Treatment Award for Pombiliti + Opfolda (cipaglucosidase alfa/miglustat), the first medication duo to be approved for adults with late-onset Pompe disease. The award recognizes new treatments that received regulatory approval for lysosomal diseases like Pompe disease…

The use of a multidisciplinary treatment approach was described in a recent case report of a boy in the U.S. with late-onset Pompe disease (LOPD) and chronic pain. The strategy consisted of orthopedics, physical therapy, and psychosocial therapy. The boy also had behavioral and mood disorders, which could further…

The strength of hip muscles and gait wherein only one leg is in contact with the ground were identified as key parameters that affect walking and falls in people with late-onset Pompe disease (LOPD). Both could help assess the effectiveness of new therapies and should be “priority targets for…

Starting people with late-onset Pompe disease on enzyme replacement therapy (ERT) at any age can benefit their bone health, including reducing the risk of weak, brittle bones, or osteoporosis, a small study suggests. The study, “Effects of enzyme replacement therapy on bone density in late onset Pompe…

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…