While most adults on Myozyme (alglucosidase alfa) for late-onset Pompe disease develop antibodies to the replacement enzyme, these usually do not limit efficacy; however, high and sustained levels of neutralizing antibodies are linked to more infusion-associated reactions and may lead some patients to stop therapy, a study found. The…
Research
Certain immune cells in people with late-onset Pompe disease (LOPD) show abnormal activation that may be linked to differences in how patients respond to treatment, a new study suggests. Researchers found that T-cells, a type of immune cell that helps coordinate the body’s response to infections and other threats,…
Misdiagnosis and lengthy diagnostic delays define the experience of many adults living with late-onset Pompe disease (LOPD), a new survey finds. Even after they finally receive a diagnosis, patients continue to face widespread gaps in healthcare provider awareness and communication, alongside insufficient pain management and psychological support. “These exploratory…
Newborn screening is uncovering signs of Pompe disease in infants months or even years before obvious symptoms appear, allowing for early treatment that can normalize markers of muscle damage, according to new research. A study tracking seven children with late-onset Pompe disease (LOPD) found that starting enzyme…
Home-based administration of Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat), an approved combination therapy for late-onset Pompe disease (LOPD), appears to be safe for certain adults with LOPD, according to a pooled analysis from three clinical trials. In reviewing more than 9,000 treatment doses given to about 150 patients worldwide…
A Phase 2 clinical trial testing the experimental oral therapy S-606001 as an add-on treatment for adults with late-onset Pompe disease (LOPD) has begun enrolling patients, according to an announcement from the trial’s sponsor, Shionogi. “This is an important milestone for Shionogi, as we continue to expand our…
Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…
Measuring levels of glucose tetrasaccharide (Glc4) in urine may offer a simple, noninvasive way to identify people with late-onset Pompe disease (LOPD) who are at higher risk of worsening muscle decline, even while receiving enzyme replacement therapy (ERT). That’s according to a real-world analysis…
Avenue Therapeutics has secured rights to develop clenbuterol, an experimental add-on treatment for Pompe disease that has already shown promise in early clinical testing. The company announced it has entered into an exclusive worldwide license agreement with Duke University for patents and technical expertise related to the experimental…
A single dose of a specialized gene therapy has successfully normalized muscle function for more than a year in a mouse model of Pompe disease. By using “data-mined” genetic sequences designed to supercharge enzyme production specifically in muscle cells, researchers achieved protein levels up to 30 times higher than…
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