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…
treatment
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…
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 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…
My 7-year-old son, Cayden, started seeing a gastroenterologist (gastrointestinal, or GI, specialist) when he was just a baby. Cayden was diagnosed with infantile-onset Pompe disease when he was 1 month old, becoming the first baby in Pennsylvania to be diagnosed with the condition via newborn screening. After the…
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 therapeutic approach designed to correct the cellular defect caused by a common mutation in people with late-onset Pompe disease (LOPD) worked as intended to increase activity of the acid alpha glucosidase (GAA) enzyme in lab studies, according to a study. People with Pompe disease are lacking in…
Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…
Several cellular processes, particularly those related to lysosome function and autophagy, are altered in the muscles of people with late-onset Pompe disease (LOPD), and supplementation with an amino acid as a regulator could be a “promising therapeutic approach,” according to a study. Levels of L-arginine, an amino acid that…
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