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…
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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…
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…
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…
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…
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