Ambulatory Late-Onset Pompe Disease After Inadequate Response to Enzyme Replacement Therapy
Clinical Scenario
This protocol applies to patients with late-onset Pompe disease who have clinical signs and symptoms of the disease, remain ambulatory, and are either non-ventilated or using non-invasive ventilation only during sleep — and who have not achieved the expected functional benefits from an initial enzyme replacement therapy trial.
Prior Treatment — Insufficient Response
Patients in this scenario received a trial of enzyme replacement therapy with recombinant human acid alpha-glucosidase (alglucosidase alfa) and did not achieve significant improvements in forced vital capacity (FVC) or 6-minute walk test distance — the primary functional goals of that treatment line. This protocol defines the recommended next step following that insufficient response.
Next-Step Approach
Management at this stage centres on evaluation for high sustained antibody titres (HSAT). Whether HSAT are found, and what follows from that finding, determines the next phase of the management pathway — the details of which are set out in the full structured protocol.
References
DOI: 10.1017/cjn.2016.37
- 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.
- Patients with LOPD who are showing a poor response to ERT, even if they have been using ERT for a number of months to years, should have an evaluation for HSAT, and if HSAT are present, interventions to lower HSAT, including treatments available in clinical trials, prior to continuation of ERT, may be necessary.
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