Margarida Maia, PhD, science writer —

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 —…

FORTIS, a Phase 1/2 clinical trial of an experimental gene therapy called AT845, is due to restart in adults with late-onset Pompe disease (LOPD), thanks to a decision by the U.S. Food and Drug Administration (FDA). The trial was put on hold mid-2022 after one of its…

The U.S. Food and Drug Administration (FDA) has delayed a decision on whether to approve cipaglucosidase alfa, the biologic component of AT-GAA — a treatment being developed by Amicus Therapeutics for late-onset Pompe disease. The agency was unable to inspect a manufacturing site of WuXi Biologics in China…

A number of enzymes involved in synthesizing glycogen – the molecule that accumulates to toxic levels in Pompe disease – are elevated in a mouse model of the disease and these metabolic changes may contribute to the disease’s progression, a study found. In fact, the buildup of these proteins…

A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…

Age and the use of an assistive device like a walker may tell how well a patient with late-onset Pompe disease will do in a six-minute walk test (6MWT), a small study suggests. The 6MWT is considered a gold standard for determining, through difficulties in walking, the severity of…

Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. The study, “Small fiber involvement is independent from clinical pain in late-onset Pompe disease,” was published in…

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…