داء بومبي ذو البداية المتأخرة في المرضى القادرين على المشي بعد الاستجابة غير الكافية للعلاج بالإنزيم البديل

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.