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Protocol enables ERT after Pompe disease treatment reaction

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…

Case study describes woman’s late-onset Pompe diagnosis

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…

Benefits seen for IOPD children switching to Nexviazyme: Study

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…

MDA 2025: Possible benefits seen with Pombiliti + Opfolda in LOPD

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…

Misdiagnoses with anxiety delay correct ID of woman’s LOPD: Case

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…

MDA Clinical & Scientific Conference starts on March 16

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…