This protocol applies to late-onset Pompe disease presenting with active clinical signs and symptoms. The patient is ambulatory and either non-ventilated, or using non-invasive ventilation only during sleep — not requiring ventilatory support while awake and not on invasive ventilation.
For this specific population, current evidence supports a trial of enzyme replacement therapy as the primary intervention. The full protocol details the agent, schedule, and administration parameters — access the complete regimen below.
Treatment targets meaningful gains in respiratory function and physical capacity, specifically significant improvements in forced vital capacity (FVC) and 6-minute walk test distance.
A trial of enzyme replacement therapy should be offered to patients with late-onset Pompe disease at a dose of 20 mg/kg body weight every other week who demonstrate clinical signs and symptoms of the disease, are ambulatory, and are either non-ventilated or on non-invasive ventilation when asleep.
Recombinant human acid alpha-glucosidase (rhGAA; alglucosidase alfa; Myozyme®) is the only approved ERT currently in Canada and is administered as an intravenous infusion every two weeks.
Subjects on active treatment showed significant improvements in forced vital capacity (FVC) and 6-minute walk test (6MWT) distance compared with patients who received placebo.
DOI: 10.1017/cjn.2016.37
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