late-onset Pompe disease

A group of experts in Europe published updated recommendations for late-onset Pompe disease (LOPD) treatment, including for the first time guidance about switching between different approved treatments. The recommendations were published in the European Journal of Neurology in a paper titled, “Start, switch and stop (triple-S)…

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…

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…

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…

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…

It seems like just the other day when I was sitting in the waiting room at the UCI Health ALS and Neuromuscular Center in Orange, California. I was meeting with a neuromuscular specialist for the first time to receive my diagnosis of late-onset Pompe disease. I will…

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…