Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study.
van Gelder CM, Poelman E, Plug I, Hoogeveen-Westerveld M, van der Beek NAME, Reuser AJJ, van der Ploeg AT
Journal of inherited metabolic disease, 2016 05
Abstract
Though enzyme-replacement therapy (ERT) with alglucosidase alfa has significantly improved the prospects for patients with classic infantile Pompe disease, some 50 % of treated infants do not survive ventilator-free beyond the age of 3 years. We investigated whether higher and more frequent dosing of alglucosidase alfa improves outcome.