Patricia Inácio, PhD,  science writer—

A 1-year-old boy with infantile-onset Pompe disease (IOPD) showed improved muscle strength and signs of less heart inflammation four months after receiving gene therapy, according to a case report. The findings in this case were confirmed with cardiac MRI, a noninvasive test that uses radio waves and magnets to…

In patients with Pompe disease, treatment with Myozyme (alglucosidase alfa) is most often administered in outpatient settings and is rarely associated with adverse reactions. That’s according to real-world data spanning a little more than seven years in France. The treatment is marketed as Lumizyme in the U.S. Overall,…

While the activity of the acid alpha-glucosidase (GAA) enzyme and glycogen buildup are hallmarks of Pompe disease, the lack of standardized assessments to quantify both parameters hampers evaluations of disease severity and treatment efficacy, according to a review study. All current methods, however, do confirm…

A man with late-onset Pompe disease (LOPD) was initially misdiagnosed with an inflammatory muscle disease called polymyositis, according to a case study highlighting the need to incorporate imaging tests in clinical practice to reduce the delay in diagnosis and treatment. After medication failed to improve his muscle strength, the…

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…

A new gene therapy for Pompe disease showed promise in a mouse model, researchers say, fully clearing in muscles the buildup of glycogen that characterizes the genetic disorder and also reducing it nearly completely in the brain. Glycogen is the stored form of glucose, or sugar — the body’s…

Regulatory approval in the European Union for miglustat, a component of the two-part investigational therapy AT-GAA for adults with late-onset Pompe disease (LOPD), has been recommended by a branch of the European Medicines Agency (EMA), the body responsible for monitoring drug therapies in the EU. A decision on whether or…

“Every Move Counts” on this year’s International Pompe Day, which is held every year to raise awareness and increase understanding of Pompe disease. This year’s Pompe Day will be celebrated April 15. According to the International Pompe Association (IPA), this year’s observance will focus on the importance of…

No anesthesia complications were reported and surgery was successful for a man with late-onset Pompe disease and airway problems who broke a bone in his upper arm, according to a case report from Spain. The man, 47, underwent surgery for the broken left arm under a combined anesthesia approach after…

Single and multiple ascending doses of MZE001, Maze Therapeutics‘ experimental oral substrate reduction treatment for Pompe disease, were well tolerated and reduced glycogen levels in healthy volunteers in a Phase 1 trial, data show. These findings support a Phase 2 trial of MZE001 in people with Pompe disease,…