Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy

Abstract

There is limited information regarding ideal dosage of alglucoside alfa in patients with Infantile Onset Pompe Disease (IOPD). The U.S. Food and Drug Administration approved alglucoside alfa at dosing of 20 mg/kg every other week, but there are small studies and case reports suggesting that dosing higher than this leads to improved ventilator free survival and development without adverse events. We review the clinical course and short term clinical outcomes one year following late diagnosis of IOPD in a 3 month old who presented severely affected and was treated with 40 mg/kg twice a week for 21 infusions until six months of age then transitioned to 40 mg/kg/week. The patient responded well to 40 mg/kg twice a week treatment without adverse reactions and significant clinical improvement. Keywords: Pompe disease, Alglucoside alfa, Cardiomyopathy, Enzyme replacement therapy, Infantile onset Pompe disease