Joana Carvalho, PhD,  managing science editor—

In the first years of treatment, Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — can effectively increase physical endurance, and improve lung function and muscle strength in adults with late-onset Pompe disease (LOPD), a real-world study found. Yet, despite this treatment, patients’ clinical outcomes, particularly lung…

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is still within a normal range, a study reported. According to its investigators, the findings highlight the importance of these imaging tests to rapidly identify patients…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency decision on this next-generation ERT is expected on May 18, 2021, Sanofi…

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of the disorder. Using this more stringent model, investigators also demonstrated the therapeutic potential of a new form of gene…

Spark Therapeutics has resumed enrollment into two international clinical studies testing SPK-3006, the company’s investigational gene therapy for Pompe disease. Recruitment of adults with late-onset Pompe disease (LOPD) into both studies — the seroprevalence SPK-GAA-100 study (NCT03893240) and the Phase 1/2 RESOLUTE trial…

Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have better motor outcomes, than those who start treatment at the recommended dose, a real-world study reports. Its researchers began treating all infants diagnosed at…

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according to top-line data from a Phase 3 trial. The findings will be the foundation for applications that…

When administered early and above its recommended dose, Myozyme (alglucosidase alfa, known as Lumizyme in the U.S.) may improve the clinical outcomes and prognosis of people with infantile-onset Pompe disease (IOPD), a study reports. Safety with a higher dose did not seem to be a concern, the…

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures,” was published in the…