infantile onset pompe disease

A baby boy with infantile-onset Pompe disease and a severely enlarged heart was treated early with Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy from Sanofi, leading to rapid and sustained improvement of heart function, according to a case report from Japan. “These findings may support the…

A new noninvasive imaging tool called quantitative muscle ultrasound, or QMUS, can detect progressive muscle disease in people with infantile-onset Pompe disease (IOPD) who are on enzyme replacement therapy (ERT), according to a small study by U.S. researchers. The study found that QMUS correlated with functional status and…

Switching to Nexviazyme (avalglucosidase alfa) was safe and effective in a 12-year-old boy with infantile-onset Pompe disease (IOPD) who developed a strong immune response against Lumizyme (alglucosidase alfa) that affected treatment efficacy. That’s according to a case study in South Korea, which supports the use of Nexviazyme…

Three new mutations in the GAA gene were linked with heart disease and severe breathing problems in infants with infantile-onset Pompe disease (IOPD) in Malaysia, a study reports. “The novel mutations identified in this study expands the mutation spectrum for IOPD,” the researchers wrote. Also, among the 17 IOPD patients…

Newborn screening for Pompe disease is feasible at large scale and can facilitate early treatment with better outcomes for babies with infantile-onset disease, according to a new study from Italy — the largest of its kind in Europe. The study, “Newborn screening for Pompe disease in…

A 1-year-old toddler with infantile-onset Pompe disease has normal heart and motor function and is growing well after receiving in-utero enzyme replacement therapy (ERT) with Lumizyme (alglucosidase alfa) and standard postnatal immunotherapy, according to a report. The successful outcome with Ayla is the result of the first in-utero use…

While my 4-year-old son, Cayden, is no stranger to specialists, it’s always a bit nerve-wracking to meet a new doctor. No matter how many doctors we see, I always worry that Cayden will be too much for them to take on, due to his infantile-onset Pompe disease. We…

Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.

The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic…