News

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…

Enzyme replacement therapy (ERT) was effective in a newborn with infantile-onset Pompe disease (IOPD) who developed treatment antibodies and had low blood levels of a type of immune cell called neutrophils, according to a case report. Researchers stressed the importance of including Pompe disease in newborn screening programs…

Enzyme replacement therapy (ERT) given as early as possible may lead to better outcomes in children with classic infantile-onset Pompe disease (IOPD), according to a long-term study conducted in Taiwan. “Our study demonstrates that administering ERT as soon as feasible and employing short-term hydrocortisone premedication leads to better…

Stem cell-mediated gene therapy normalized glycogen build-up in muscle, heart, and brain tissue of a Pompe disease mouse model, a study shows. Treatments also restored cellular defects and motor impairment associated with the condition. The researchers recommended stem cell-based gene therapy as a candidate for future clinical development. The…

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…

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…

The U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation to Aro Biotherapeutics’ ABX1100, an investigational substrate reduction therapy for Pompe disease. This designation is awarded to experimental therapies for rare pediatric disorders with serious or life-threatening manifestations that primarily affect young people from birth…

In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.

The function of the diaphragm, a major muscle in breathing, is significantly reduced over a year in adults with Pompe disease relative to healthy people, a small study showed. These deficits, detected through a chest MRI test, were not accompanied by significant changes in lung function tests. In addition,…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to MZE001, Maze Therapeutics‘ investigational oral treatment for Pompe disease. “Pompe disease is a serious and often fatal disorder, and MZE001 has the potential to offer patients an oral, disease-modifying option that improves clinical outcomes and…