Research

The activity levels of Myozyme (alglucosidase alfa) measured in blood and white blood cells may help indicate how well gene therapies are working in people with classic infantile Pompe disease who are receiving enzyme replacement therapy (ERT). That’s according to a study that analyzed the pharmacokinetics of…

Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment with enzyme replacement therapy (ERT), a real-world study in the U.S. found. Researchers also found a relatively high rate of ERT discontinuation, particularly among people with late-onset Pompe…

The buildup of the complex sugar glycogen, the main cause of muscle damage in late-onset Pompe disease (LOPD), can be detected in people with the condition long before visible symptoms appear, researchers in Denmark found. Using an advanced imaging technique capable of measuring glycogen inside muscles —a test that…

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…

A simple, noninvasive breathing intervention that briefly exposes the body to repeated bouts of low oxygen modestly improved breathing in a mouse model of Pompe disease, a study showed. Therapeutic acute intermittent hypoxia (tAIH) led to small but measurable increases in breathing rate, breath size, or the amount of…

Wearable digital health technologies (DHTs) may help identify subtle walking and movement impairments in people with late-onset Pompe disease (LOPD) that are not evident in standard clinical evaluation, a recent study in Italy shows. These technologies “may have important implications for management, follow-up, and treatment decisions in clinical practice,”…

Scientists at Sanofi have developed a new type of enzyme replacement therapy (ERT) that can clear excess glycogen — the underlying cause of Pompe disease — from the cells in the brain and spinal cord, which are untouched by current ERTs. That’s according to a mouse…

Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…

Long-term use of Myozyme (alglucosidase alfa), marketed as Lumizyme in the U.S., helped individuals with late-onset Pompe disease (LOPD) maintain their ability to walk and breathe, while remaining generally safe and well tolerated over 15 years, according to a study in Italy. While responses varied, fewer than expected…

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…