News

Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…

Orthodontic treatment successfully addressed speech and swallowing problems in a young girl with infantile-onset Pompe disease (IOPD), according to a case report from Italy. “The approach outlined in this paper serves as an illustrative example of orthodontic treatment for addressing speech and swallowing difficulties in patients with Pompe Disease,”…

Long-term use of Myozyme (alglucosidase alfa), marketed as Lumizyme in the U.S., helped individuals with late-onset Pompe disease (LOPD) maintain their ability to walk and breathe, while remaining generally safe and well tolerated over 15 years, according to a study in Italy. While responses varied, fewer than expected…

A man was diagnosed with late-onset Pompe disease (LOPD) after prenatal genetic counseling, even though he exhibited no symptoms. “This example stresses the importance of pretest consultation and the relevance of clinical and ethical implications during prenatal genetic testing for the whole family group,” scientists wrote. His condition was…

Reduced activity of the COL13A1 gene, which codes for a protein involved in the communication between nerves and muscles, may contribute to the neuromuscular dysfunction and muscle weakness seen in people with Pompe disease, a new study suggests. This gene’s activity seems to be mediated by levels of glucose…

An experimental gene therapy known as GC301 improved motor function and cardiac outcomes for three out of four infants with infantile-onset Pompe disease (IOPD) in a small clinical trial. The treatment was also well tolerated. One year after treatment, these three participants had reached milestones such as…

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in…

Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) has been approved for adults with late-onset Pompe disease (LOPD) by Japan’s Ministry of Health, Labour and Welfare (MHLW). “We are delighted that we will now be able to offer a compelling new treatment option to patients living with late-onset Pompe disease in…

Researchers defined a threshold for improvements in lung function that adults with late-onset Pompe disease (LOPD) perceive as clinically meaningful when treated with enzyme replacement therapies. A study found that when thresholds were applied to data from the Phase 3 COMET study, more Pompe patients treated with the…

Switching from Lumizyme (alglucosidase alfa) to Pombiliti + Opfolda (cipaglucosidase alfa and miglustat) improved or stabilized motor function, muscle strength, and lung function in adults with late-onset Pompe disease (LOPD). That’s according to a new analysis from the Phase 3 PROPEL trial (NCT03729362) that also showed…