News

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…

Screening people with unexplained muscle weakness or elevated levels of muscle damage markers can help to identify people with late-onset Pompe disease (LOPD), a study found. The study, “Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness,” was published in Clinical Neurology and Neurosurgery. LOPD…

Estimates of the number people diagnosed with Pompe disease vary widely across regions, with notably higher rates in populations of African descent, a study review found. The researchers attributed the variability to underlying genetic differences as well as inconsistencies in diagnostic criteria, newborn screening methods, and disease classification depending…

A new type of substrate reduction therapy composed of antisense oligonucleotides, or ASOs, effectively reduces glycogen accumulation in the skeletal muscles, or those attached to bones, of a Pompe disease mouse model, a study found. When combined with standard enzyme replacement therapy (ERT), which showed limited…

Gene and enzyme replacement therapies for Pompe disease improved breathing and limb strength in a mouse model of the disease, a study showed. The researchers said the improvement was associated with glycogen clearance in the tongue, the lungs, and the diaphragm, the main muscle involved in respiratory control. Glycogen…

A test that measures walking speed over 10 meters (33 feet) offers a simpler and less demanding alternative to the commonly used six-minute walk test for evaluating walking performance in Pompe disease, and may be a better option for patients who have difficulty covering longer distances. In a French…

Involvement in the brain and spinal cord’s white matter is common in Pompe disease, particularly in the infantile-onset form, according to a review of published studies. Other affected parts of the brain and spinal cord, or central nervous system (CNS), were the gray matter and blood vessels in the…

A genomic medicine designed to correct the genetic defect found in up to 90% of people with late-onset Pompe disease (LOPD) worked as intended in patient-derived muscle cells and a mouse model, according to a study. The study, “Splicing correction by peptide-conjugated morpholinos as a novel…