Patients with late-onset Pompe disease who have lost the ability to walk, or who require ongoing ventilatory support, represent a distinct clinical subgroup. Determining whether and how to treat requires a structured, outcome-anchored approach.
This protocol addresses individuals with late-onset Pompe disease who are non-ambulatory and/or receiving non-invasive ventilation while awake, or invasive ventilation. In this group, the rationale and conditions for initiating therapy must be clearly established before treatment begins.
A time-limited trial of enzyme replacement therapy may be appropriate for this patient group — but only when specific, predefined skeletal muscle outcomes have been identified in advance that, if achieved, would demonstrably improve the patient's functional status. Whether the trial continues depends on whether those pre-specified goals are met.
DOI: 10.1017/cjn.2016.37
A trial of enzyme replacement therapy may be considered in individuals with late-onset Pompe disease at a dose of 20 mg/kg every other week who are non-ambulatory and/or receive non-invasive ventilation while awake or invasive ventilation if there are predefined skeletal muscle outcomes which can be evaluated and which, if achieved, would improve the functional status of the patient.
In such cases, if the trial of therapy does not result in the pre-specified outcomes, then the trial should be discontinued.
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