News

People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. “We did not find a single variant that strongly affected the phenotype,” or observable characteristics in patients that result from the expression of a…

A surgical technique called conjoint fascial sheath (CFS) suspension may help relieve drooping eyelids in children with infantile-onset Pompe disease (IOPD). “Surgical correction may provide a practical option for ptosis [drooping eyelid] correction in patients with IOPD,” the researchers wrote in “Blepharoptosis in infantile onset Pompe disease:…

Treatment with AT-GAA, Amicus Therapeutics’ experimental two-part therapy for Pompe disease, has now been shown to improve motor function, and to stabilize or improve lung function, for up to four years in adults. That’s according to new analyses from the ongoing Amicus-sponsored Phase 1/2 ATB200-02 trial…

Regulatory approval in the European Union for miglustat, a component of the two-part investigational therapy AT-GAA for adults with late-onset Pompe disease (LOPD), has been recommended by a branch of the European Medicines Agency (EMA), the body responsible for monitoring drug therapies in the EU. A decision on whether or…

Cardiac function normalized within a year of starting enzyme replacement therapy (ERT) for children with classic infantile-onset Pompe disease (IOPD) and remained stable over about 10 years, a study found. The findings were confirmed with standard and more advanced techniques to look at cardiac function. In light of the…

“Every Move Counts” on this year’s International Pompe Day, which is held every year to raise awareness and increase understanding of Pompe disease. This year’s Pompe Day will be celebrated April 15. According to the International Pompe Association (IPA), this year’s observance will focus on the importance of…

No anesthesia complications were reported and surgery was successful for a man with late-onset Pompe disease and airway problems who broke a bone in his upper arm, according to a case report from Spain. The man, 47, underwent surgery for the broken left arm under a combined anesthesia approach after…

After two years being treated with AT-GAA (cipaglucosidase alfa/miglustat), adults with late-onset Pompe disease (LOPD) maintained their improvements in walking ability and had stabilized breathing function, as well as a reduction in the levels of disease biomarkers, according to…

Pombiliti (cipaglucosidase alfa), a component of AT-GAA, a two-part investigational therapy, has been approved to treat adults with late-onset Pompe disease (LOPD) in the European Union. The European Commission (EC) ruling comes on the heels of a positive opinion issued by the Committee for Medicinal Products for Human…

Nearly three years of treatment with Nexviazyme (avalglucosidase alfa) led to long-term improvements in walking ability and lung function for people with late-onset Pompe disease (LOPD), according to new data from the Phase 3 clinical trial COMET. …