ERT

The European Medicines Agency agreed to begin reviewing Sanofi Genzyme’s application requesting the approval of avalglucosidase alfa, its investigational enzyme replacement therapy (ERT) for people with Pompe disease. According to a press release, a regulatory decision is expected in the second half of 2021, and if…

Adding a preventive short-course immunomodulatory regimen — rituximab, methotrexate, and intravenous immunoglobulins (IVIG) — to enzyme replacement therapy (ERT) safely provides long-term protection from antibodies that can block ERT’s effectiveness in children with classic infantile Pompe disease, a study found. These findings highlight that the benefits…

Children receiving enzyme replacement therapy (ERT) for Pompe disease often experience immune reactions to treatment, presenting as rashes or severe allergy, sometimes after several successful infusions, a case series shows. While these hypersensitivity reactions can be avoided successfully with anti-allergy medications and longer infusion times in some patients, others…

Transplanting blood stem cells modified to carry the GAA gene raised glycogen levels almost to normal across a range of organs, including the brain, and improved locomotion in a mouse model of Pompe disease, a study reported. These findings suggest that blood stem cell gene therapy, in which a patient’s…

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according to top-line data from a Phase 3 trial. The findings will be the foundation for applications that…

A moss-derived type of enzyme replacement therapy (ERT) for Pompe disease may be more effective than the currently approved ERT in targeting muscle cells, according to a small study. Since the study focused on muscle cells grown in the lab, further research in a whole organism, such as a…

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures,” was published in the…

A small molecule called 3-BrPA was able to lower levels of glycogen — a complex sugar that builds up to toxic levels in Pompe disease — and ameliorate muscle and heart structural defects in a new zebrafish model of the genetic disorder, a recent study has shown.

When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were reported in the study, “Improved muscle function in a phase I/II clinical trial of albuterol…

Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study shows. Despite these results, ERT improved lung function when compared to the predicted outcome without ERT, and some patients responded…