Treatment Options for Patients with Advanced Pompe Disease

Abstract

Clinical trials of Myozyme® have demonstrated efficacy in carefully selected cohorts of patients with Pompe disease. Post-licensing, the drug is now being used in patients who have more advanced disease and would not have met the inclusion criteria for clinical trials. Real-life experience in infants has shown that cardiac disease responds well to enzyme replacement therapy (ERT), but babies who are already ventilator-dependent at initiation of therapy are unlikely to become ventilator-independent. In infants, advanced disease is severe disease and prognosis is likely to be correspondingly poor. In adults, even those who are wheelchair-bound or ventilator-dependent can show real improvements in performance with ERT, although these may be difficult to quantify. In adults diagnosed before ERT was available, we see a full spectrum of disease severity. Severity is related to age at symptom onset and older patients may have mild, moderate or severe disease. Adults with advanced disease get real benefit from ERT, although this may be difficult to quantify.