Marisa Wexler, MS, senior science writer —

Newborn screening for Pompe disease is feasible at large scale and can facilitate early treatment with better outcomes for babies with infantile-onset disease, according to a new study from Italy — the largest of its kind in Europe. The study, “Newborn screening for Pompe disease in…

Scientists at the University at Buffalo (UB) in New York have received a five-year $3.8-million grant to develop methods to improve the accuracy of newborn screening for Pompe disease and two other rare genetic disorders. The project, “Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of…

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for…

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

ABX1100, an experimental substrate reduction therapy that Aro Biotherapeutics is developing for Pompe disease, has been granted an orphan drug designation by the U.S. Food and Drug Administration (FDA). The FDA gives this designation to investigational treatments designed to improve care for rare diseases affecting fewer than…

The European Commission has approved the next-generation enzyme replacement therapy Nexviadyme (avalglucosidase alfa) to treat both late-onset and infantile-onset Pompe disease. This is the first time a new treatment for Pompe has been approved in Europe since 2006, according to Nexviadyme’s developer Sanofi Genzyme. “For more than…

Spark Therapeutics is offering new research grants to scientists working on a number of topics related to Pompe disease. Its Competitive Research Grant Program in Pompe disease is accepting submissions from around the world through the end of the month. Full details are available here. Each project…

Adding L-alanine supplements to standard enzyme replacement therapy (ERT) for a young girl with Pompe disease led to improvements in several metabolic and body composition measures, a case report shows. According to researchers, this was the first known report of oral supplements of L-alanine — an amino acid,…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

An intervention involving whole body vibration therapy showed promise for improving movement ability and muscle composition in a small study involving three children with non-classic infantile-onset Pompe disease. The study, “Vibration assisted rehabilitation in patients with Pompe disease: A case series,” was published in the…