Margarida Maia, PhD,  science writer—

An easy survey of 20 questions agrees well with other tools used in clinical practice to measure physical function in people with late-onset Pompe disease (LOPD), according to a study that suggests it may aid in measuring and tracking symptoms over time. Having a reliable way to measure physical…

Amicus Therapeutics has been honored with the WORLDSymposium 2024 New Treatment Award for Pombiliti + Opfolda (cipaglucosidase alfa/miglustat), the first medication duo to be approved for adults with late-onset Pompe disease. The award recognizes new treatments that received regulatory approval for lysosomal diseases like Pompe disease…

Despite being on enzyme replacement therapy (ERT) for a long time, some children with infantile-onset Pompe disease (IOPD) can still develop problems in the brain and spinal cord, a small study suggests. Manifestations such as overactive bodily reflexes, encephalopathy (damage to the brain), and…

Staying physically active according to the World Health Organization (WHO) guidelines and engaging in a personalized exercise program can significantly improve the physical well-being of adults with late-onset Pompe disease, a small study found. Moreover, regular physical activity was seen to delay disease progression among the study’s participants. “Endurance,…

Nearly 1 in 4 adults with late-onset Pompe disease develop high levels of antibodies against enzyme replacement therapy (ERT). However, that does not mean they have a reduced response to treatment, a systematic review study has revealed. The findings are in line with previous data from patients with…

While it is not very common, adults with late-onset Pompe disease (LOPD) may go undiagnosed or misdiagnosed, even if they show symptoms or signs suggestive of the disease, a study from Spain has found. Dried blood spots — a form of sampling where a drop of blood is blotted…

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…

A diaphragm pacer may help people with Pompe disease who can’t breathe on their own rely less on a mechanical ventilator during the day, a small study suggests. Many people with Pompe disease have respiratory problems and require full-time ventilation to support breathing, so being able to breathe without…

Starting people with late-onset Pompe disease on enzyme replacement therapy (ERT) at any age can benefit their bone health, including reducing the risk of weak, brittle bones, or osteoporosis, a small study suggests. The study, “Effects of enzyme replacement therapy on bone density in late onset Pompe…

Nexviadyme, (avalglucosidase alfa), Sanofi’s next-generation enzyme replacement therapy for Pompe disease, will now be available in the U.K. through the National Health Service (NHS). That’s according to a review from the National Institute for Health and Care Excellence that deemed Nexviadyme as an option for treating people —…