BACKGROUND: Though enzyme-replacement therapy (ERT) with alglucosidase alfa has significantly improved the prospects for @entity1 with @entity13785 , some 50  % of treated @entity1 do not survive ventilator-free beyond the age of 3  years. We investigated whether higher and more frequent dosing of alglucosidase alfa improves outcome. METHODS: Eight cross-reactive immunological material (CRIM) positive @entity1 were included in the study. All had fully deleterious mutations in both @entity12190 alleles. Four received a dose of 20  mg/kg every other week (eow) and four received 40  mg/kg/week. Survival, ventilator-free survival, left-ventricular mass index (LVMI), motor outcome, infusion-associated reactions (IARs), and antibody formation were evaluated. RESULTS: All eight @entity1 were alive at study end, seven of them remained ventilator-free. The @entity1 who became ventilator dependent was treated with 20  mg/kg eow. Three of the four @entity1 receiving 20  mg/kg eow learned to walk; two of them maintained this ability at study end. All four @entity1 receiving 40  mg/kg/week acquired and maintained the ability to walk at study end (ages of 3.3-5.6  years), even though their baseline motor functioning was poorer. There were no apparent differences between the two dose groups with respect to the effect of ERT on LVMI, the number of IARs and antibody formation. CONCLUSIONS: Our data may suggest that a dose of 40  mg/kg/week improves outcome of CRIM positive @entity1 over that brought by the currently recommended dose of 20  mg/kg eow. Larger studies are needed to draw definite conclusions.

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in XXXX : an open-label single-center study.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'infants'] @entity12190 :: ('2548', 'Gene') :: ['GAA'] @entity13785 :: ('MESH:D006009', 'Disease') :: ['classic infantile Pompe disease']
@entity13785 :: (MESH:D006009,Disease) :: ['classic infantile Pompe disease']
