Dyne Therapeutics has unveiled promising preclinical data for its enzyme replacement therapy (ERT) FORCE-GAA — part of the company’s propriety FORCE platform — designed to treat Pompe disease. The novel therapy has demonstrated the potential to deliver the treatment directly to skeletal and heart muscles, as well…
News
Health-related quality of life for children with Pompe disease in the Netherlands is generally similar to healthy peers when self-reported, but worse when rated by their parents, a study found. Results also showed that children with classic infantile Pompe had greater fatigue and more limitations than those with non-classic…
Quantitative MRI (qMRI) imaging of the muscles is a useful technique for identifying signs of compromised muscle health in people with neuromuscular conditions like Pompe disease, according to a small study. The study identified specific patterns of qMRI changes in the thigh muscles of people with late-onset Pompe…
Pombiliti plus Opfolda, a combination treatment developed by Amicus Therapeutics for adults with late-onset Pompe disease (LOPD), has been selected as the winner of the 2024 Prix Galien U.K. Award for Best Pharmaceutical Product. This award is given by the Galien Foundation to recognize companies that have helped…
Researchers in the U.S. used a gene-editing tool in the lab to correct mutations known to cause infantile-onset Pompe disease, and this enabled patient-derived cells to produce a working version of the acid alpha-glucosidase (GAA) enzyme they lacked. The approach “may offer an efficacious, long-term therapy,” the researchers wrote,…
An immune system modulatory regimen effectively reduced levels of antibodies against Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) for Pompe disease, in patients with low levels of acid alpha-glucosidase (GAA) enzyme. That’s according to data from a Phase 4 study (NCT02525172), which assessed such a regimen…
Dysfunction of the phrenic nerve, which is important for controlling breathing, was observed in a small study of late-onset Pompe disease (LOPD) patients who had ongoing respiratory dysfunction despite enzyme replacement therapy (ERT). “Our study provide new insights regarding respiratory mechanisms in LOPD,” the researchers wrote. Should their…
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…
For most adults with late-onset Pompe disease (LOPD), a fairly significant improvement in walking ability is needed to be noticeable, but for patients who are already experiencing difficulty walking, a slowing of decline can be meaningful, a new study reports. “Patients with severe baseline conditions should not be expected…
Switching to Nexviadyme (avalglucosidase alfa) from Myozyme (alglucosidase alfa) can help to halt the worsening of motor function in adults with late-onset Pompe disease (LOPD), according to a recent study in France. However, no significant differences in lung function were reported after patients switched these enzyme…