enzyme replacement therapy

Newborn screening is uncovering signs of Pompe disease in infants months or even years before obvious symptoms appear, allowing for early treatment that can normalize markers of muscle damage, according to new research. A study tracking seven children with late-onset Pompe disease (LOPD) found that starting enzyme…

Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…

Women with late-onset Pompe disease (LOPD) can safely use enzyme replacement therapy (ERT) during pregnancy and breastfeeding, according to a case series. Of the five reported pregnancies from three women, all were uneventful, and all five children breastfed by mothers receiving ERT exhibited normal growth and age-appropriate development.

In the first study of its kind, U.S. researchers showed that focused ultrasound (FUS) could be used to allow approved enzyme replacement therapies (ERTs) — which can not get past the brain’s protective barrier in humans — to enter the brain of a mouse model of Pompe disease.

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…

Switching from Lumizyme (alglucosidase alfa) to Nexviazyme (avalglucosidase alfa) stabilizes or improves lung function in people with late-onset Pompe disease (LOPD). That’s according to new analyses from the COMET Phase 3 clinical trial and its open-label extension study, which showed the benefits of switching to Nexviazyme were…

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…

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…