MRI scans of people with classic infantile Pompe disease showed a change in the microscopic structure of certain brain regions — but no damage was seen in patients with the late-onset form of the disease, a new study reports. “We conclude that, while no deviations from typical neurodevelopment were…
In 2022, Pompe Disease News brought you weekly coverage of the latest scientific research, clinical trial updates, and treatment advances related to Pompe disease. We look forward to continuing to be a resource for our valued readers in 2023. Here is a list of the 10 most-read Pompe news…
MZE001, an experimental oral substrate reduction treatment for Pompe disease, was well-tolerated in both single and multiple doses in a study conducted in healthy volunteers, according to Maze Therapeutics, the therapy’s developer. Based on the trial’s findings, Maze is planning to launch a new study in 2023 to…
The level of variability seen during an ultrasound — a parameter called echo heterogeneity index — may help to quantify the level of skeletal muscle involvement in Pompe disease patients, a new study suggests. A lower EH index in the leg muscles was indicative of worse motor function, as…
An MRI-based study found that progression of white matter involvement in the brain among patients with infantile-onset Pompe disease (IOPD) occurred at different rates and correlated with cognitive decline — despite ongoing treatment. White matter abnormalities also were tied to elevated bloodstream levels of the neurofilament light chain (NfL)…
A new cell-based therapy containing a modified version of the GAA gene mutated in Pompe disease, can effectively clear out glycogen in a number of tissues, including the heart, skeletal muscles, and central nervous system (CNS), a mouse study showed. The new treatment functions as a blood stem cell…
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…
People with Pompe benefit from the same types of exercise as the general population; however, they should avoid very intense exercise due to the potential of muscle damage. Physical therapist Tracey Boggs gives us the scoop on exercise for the Pompe patient.
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…
A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…
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