Andrea Lobo, PhD,  science writer—

Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…

Last year, the team at Pompe Disease News brought our readers news on the most recent scientific advances, treatment progresses, and clinical trials for Pompe disease. Here are the 10 most read stories we published on Pompe disease during 2024. No. 10 – Switch from Lumizyme to Nexviazyme…

Three genes related to the regulation of immune responses — GPNMB, CALML6, and TRIM7 — show abnormal activity in immune cells infiltrating the muscles of people with infantile-onset Pompe disease, according to a new study from researchers in China. All three were found to be associated with regulatory T-cells, a…

Dyne Therapeutics has unveiled promising preclinical data for its enzyme replacement therapy (ERT) FORCE-GAA — part of the company’s propriety FORCE platform — designed to treat Pompe disease. The novel therapy has demonstrated the potential to deliver the treatment directly to skeletal and heart muscles, as well…

Health-related quality of life for children with Pompe disease in the Netherlands is generally similar to healthy peers when self-reported, but worse when rated by their parents, a study found. Results also showed that children with classic infantile Pompe had greater fatigue and more limitations than those with non-classic…

An immune system modulatory regimen effectively reduced levels of antibodies against Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) for Pompe disease, in patients with low levels of acid alpha-glucosidase (GAA) enzyme. That’s according to data from a Phase 4 study (NCT02525172), which assessed such a regimen…

Switching to Nexviadyme (avalglucosidase alfa) from Myozyme (alglucosidase alfa) can help to halt the worsening of motor function in adults with late-onset Pompe disease (LOPD), according to a recent study in France. However, no significant differences in lung function were reported after patients switched these enzyme…

The COVID-19 pandemic affected the treatment, as well as the physical and mental health, of people with Pompe disease, according to a recent survey of patients in 25 countries. More than 50% of respondents reported interruptions in enzyme replacement therapy (ERT) and physical therapy, affecting their disease, and…

Pompe disease is less prevalent than expected in Spain, at around 3.1 cases per million inhabitants, according to a registry study that identified regional differences in prevalence, as well as the variable diagnosis and care workouts. “Our data supports the development of agreed guidelines to ensure that the care…

Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in people with Pompe disease, according to a new study from China. The disease-causing mechanisms were explored in a patient-derived heart cell model with characteristics of Pompe disease, including low…