People with Pompe benefit from the same types of exercise as the general population; however, they should avoid very intense exercise due to the potential of muscle damage. Physical therapist Tracey Boggs gives us the scoop on exercise for the Pompe patient.
The six-minute walk distance (6MWD) test is a reliable measure of declines in motor abilities in people with late-onset Pompe disease (LOPD), a two-year study that evaluated a series of such tests reported. Other common measures of motor function and muscle strength failed to reliably detect such changes in…
Gene therapy given with chaperones — specific molecules known to stabilize the structure of proteins — was found to enhance the availability of acid alpha-glucosidase, known as GAA, the missing or defective enzyme in Pompe disease (PD), in a mouse model. The treatment subsequently eased disease symptoms, with the…
In the first years of treatment, Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — can effectively increase physical endurance, and improve lung function and muscle strength in adults with late-onset Pompe disease (LOPD), a real-world study found. Yet, despite this treatment, patients’ clinical outcomes, particularly lung…
People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, according to a new study. These findings support the use of muscle imaging to assess…
Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in Late‐onset Pompe Disease: Clinical utility and correlation with functional measures,” was published in the Journal of Inherited Metabolic…
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…
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…
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