Margarida Maia, PhD, science writer —

Researchers in the U.S. used a gene-editing tool in the lab to correct mutations known to cause infantile-onset Pompe disease, and this enabled patient-derived cells to produce a working version of the acid alpha-glucosidase (GAA) enzyme they lacked. The approach “may offer an efficacious, long-term therapy,” the researchers wrote,…

Early treatment with at least two cycles of bortezomib may help lower the levels of antibodies that can make enzyme replacement therapy (ERT) less effective, according to a report of two young children with infantile-onset Pompe disease. The cases add to earlier reports that bortezomib, an injectable medication…

Sanofi’s Nexviazyme (avalglucosidase alfa), an enzyme replacement therapy approved for Pompe disease, doesn’t appear to be linked to new or worsening diabetes, a concern raised by the presence of dextrose, a simple sugar, in the solution for infusion. In a study funded by Sanofi, researchers also…

A gene therapy designed to travel into muscles resulted in widespread production of the enzyme that’s missing or faulty in Pompe disease, according to a study that also describes a new rat model of the infantile-onset form of the disease. Researchers also observed that rats given a single…

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…