enzyme replacement therapy

Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a recent study. However, factors such as aging may explain the loss of benefits observed at later stages. The…

While Pompe disease can affect the heart, respiratory system, and other functions, its chief symptom is muscle weakness. Exercise and physical therapy can help patients preserve mobility for as long as possible. Following are answers to some frequently asked questions about Pompe disease and exercise. How does…

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…

Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may increase the risk of late-onset Pompe disease patients developing white matter lesions in the brain, a study suggests. The study, “White matter lesions in treated late onset Pompe disease are not different to matched controls,”…

Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The study, “Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using…

On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed with Pompe disease. A few weeks later, so was her newborn brother, Patrick. Even the doctor who diagnosed the two children didn’t know much about the disease. Before that March day in 1998, he had…