treatment

Pompe disease is a rare inherited disease characterized by the abnormal buildup of a type of sugar called glycogen within the cells and tissues of the body. Glycogen accumulation occurs due to mutations in the GAA gene that provides instructions for making an enzyme called alpha-glucosidase…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Enzyme replacement therapy (ERT) is the first-line treatment for Pompe disease, a rare genetic disorder characterized by the buildup within cells of a large, complex sugar molecule. That sugar molecule, called glycogen, accumulates within the cells in people with Pompe due to the deficiency of an enzyme called…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

A glance around the walls of Barry J. Byrne’s office reveals a lot about the pediatric cardiologist who runs the Powell Gene Therapy Center at University of Florida (UF). In one corner is an unusual painting by 9-year-old Will Barkowsky of Jacksonville, Fla. Will, the first boy with…

Pompe disease is a rare genetic disease in which a type of complex sugar molecule called glycogen builds up within cells and affects their proper function, leading to problems in many organs, especially the heart. All Pompe disease patients have heart-related symptoms, but the risk of heart failure…

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…

Adding carvedilol, the active compound of a blood pressure medicine, to enzyme replacement therapy (ERT) for Pompe disease can improve its effectiveness in reaching and strengthening skeletal muscles, a study in mice suggests. This finding, “Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with…

Pompe is a type of glycogen storage disease in which a complex sugar molecule known as glycogen builds up within cells, especially in the muscle cells. A defect in the GAA gene causes low production of the acid alpha-glucosidase enzyme that is needed to break down glycogen into…

Amicus Therapeutics’s investigational therapy AT-GAA (ATB200/AT221) continues to show promise as a safe and effective treatment for adults with Pompe disease, according to the latest results from an ongoing Phase 1/2 clinical trial. Pompe disease is caused by acid alpha-glucosidase (GAA) enzyme deficiency, leading to the build-up of glycogen…