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A desensitization protocol allowed doctors to successfully treat an infant with classic infantile-onset Pompe disease (IOPD) who developed an allergic reaction to Myozyme (alglucosidase alfa), according to a report. The protocol, which was also used when the patient switched to Nexviadyme (avalglucosidase alfa), involved delivering the Pompe…

A woman in Canada with atypical and slowly progressive onset of muscle weakness affecting her eyelids, face, and throat muscles had shown symptoms for decades before being diagnosed with late-onset Pompe disease (LOPD), according to a study describing her case. Doctors considered several neuromuscular diseases before arriving at the…

Children with infantile-onset Pompe disease (IOPD) experienced reductions in disease-related biomarkers and stabilizations or improvements in clinical function after switching from Myozyme (alglucosidase alfa) — sold as Lumizyme in the U.S. — to Nexviazyme (avalglucosidase alfa), according to a new study from Taiwan. These functional improvements were…

The combination therapy Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) may help overcome some of the limitations of standard enzyme replacement therapies (ERT) for treating late-onset Pompe disease (LOPD), according to a recent presentation. Like other ERTs, Pombiliti + Opfolda contains a lab-made version of the enzyme that LOPD patients…

A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish…

A therapeutic approach designed to correct the cellular defect caused by a common mutation in people with late-onset Pompe disease (LOPD) worked as intended to increase activity of the acid alpha glucosidase (GAA) enzyme in lab studies, according to a study. People with Pompe disease are lacking in…

Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…

Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with late-onset Pompe disease (LOPD), and supplementation with an amino acid as a regulator could be a “promising therapeutic approach,” according to a study. Levels of L-arginine, an amino acid that…

Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having a missed diagnosis of late-onset Pompe disease (LOPD), a study in the U.S. shows. A LOPD diagnosis should be considered in patients with progressive muscle weakness and at least…

The benefits seen with Nexviazyme (avalglucosidase alfa) treatment in three people in Japan with Pompe disease matched those found among the overall patient population of two global clinical trials, a new case series analysis by researchers in that country has found. This trio of Japanese patients — two…