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…
enzyme replacement therapy
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 diet combining an oral ketone precursor — a molecule being studied as a dietary supplement — and a cocktail of natural antioxidant molecules boosts the efficacy of enzyme replacement therapy (ERT) at maintaining muscle strength and motor function in a mouse model of Pompe disease, a study…
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…
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…
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…
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,…
Recently, my 4-year-old son, Cayden, had an appointment with his metabolic specialist. This doctor manages everything related to his Pompe disease and is part of a team of doctors that diagnosed him when he was just 1 month old. They also oversee everything related to his enzyme replacement infusions.
Most children with Pompe disease in a small study developed antibodies against the enzyme replacement therapy Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — but their presence did not limit treatment efficacy, its researchers reported. Children with the highest levels of antibodies also experienced most of…
Recent Posts
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- Muscle damage begins before visible changes appear in LOPD