Lindsey Shapiro, PhD, science writer —

Cardiac function normalized within a year of starting enzyme replacement therapy (ERT) for children with classic infantile-onset Pompe disease (IOPD) and remained stable over about 10 years, a study found. The findings were confirmed with standard and more advanced techniques to look at cardiac function. In light of the…

Late-onset Pompe disease (LOPD) patients exhibit significant gene activity changes in their skeletal muscles compared with healthy people, some of which were normalized after six months of Nexviazyme (avalglucosidase alfa) treatment, a study found. Pathways involved in lysosome function, energy metabolism, and inflammation appeared to be most altered,…

Astellas Gene Therapies has obtained the rights to develop medication that could help reduce preexisting immune responses against the viral carrier used in ATA845, its investigational gene therapy for adults with late-onset Pompe disease (LOPD). Called IdeXork, or Xork, the investigational medication was developed by Selecta Biosciences,…

In 2022, Pompe Disease News brought you weekly coverage of the latest scientific research, clinical trial updates, and treatment advances related to Pompe disease. We look forward to continuing to be a resource for our valued readers in 2023. Here is a list of the 10 most-read Pompe news…

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…

A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…

Certain protein modifications may enhance the ability of a therapeutically-delivered acid alpha-glucosidase (GAA) enzyme to be secreted and taken up by neighboring cells in models of Pompe disease, a study suggested. Such approaches could offer ways to improve the effectiveness of gene therapies for Pompe, although more work is…

A small study in the U.K. is evaluating a noninvasive MRI-based tool that could potentially detect late-onset Pompe disease (LOPD) without the need for invasive muscle biopsies. This specialized muscle MRI also would monitor glycogen buildup — a hallmark of the condition — in muscles over time. The…

Administrating a stem cell gene therapy before beginning enzyme-replacement therapy (ERT) prevented the development of antibodies against the acid alpha-glucosidase (GAA) enzyme, improved survival, and enhanced therapeutic benefits in a mouse model of Pompe disease, a recent study found. “Together, this study indicates that [stem cell] gene therapy induces…

Lower urinary tract symptoms, including a loss of bladder control and unusual urine flow, are prevalent among children with classic infantile-onset Pompe disease (IOPD) who begin treatment early with enzyme-replacement therapy (ERT), according to a small study. Findings suggest that “pediatricians should actively seek to recognize children with IOPD…