Enzyme replacement therapy with alglucosidase alfa in Pompe disease

Abstract

Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3 h 45 min for a patient receiving the standard dose of 20 mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40 mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6 h 36 min. Increased infusion durations compound the psychosocial burden on patients and families and potentially further disrupt family activities and obligations. We developed a stepwise infusion rate escalation protocol to administer higher dose ERT safely while decreasing infusion duration, which has been implemented in 15 patients to date. Reported here in detail are five patients with IOPD on 40 mg/kg/weekly ERT in whom infusion duration was decreased with individualized, stepwise rate escalation. All patients tolerated rate escalations above the recommended rates without experiencing any infusion associated reactions and experienced a reduction in infusion duration by 1 h and 24 min with a corresponding increase in reported satisfaction. Our experience with ERT rate escalation is presented.

Synopsis: A careful stepwise method of enzyme replacement therapy (ERT) rate escalation can safely reduce infusion duration in patients with Pompe disease.