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

Journal of Inherited Metabolic Disease
Carin M van GelderA T Van der Ploeg

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. Eight cross-reactive immunological material (CRIM) positive patients were included in the study. All had fully deleterious mutations in both GAA 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. All eight patients were alive at study end, seven of them remained ventilator-free. The patient who became ventilator dependent was treated with 20 mg/kg eow. Three of the four patients receiving 20 mg/kg eow learned to walk; two of them maintained this ability at study end. All four patients 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 t...Continue Reading

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Citations

Sep 8, 2018·Journal of Clinical Pharmacology·Yvonne SchullerVioleta Stoyanova-Beninska
Nov 16, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Marco SpadaFrancesco Porta
May 3, 2019·PharmacoEconomics Open·Benedikt SchoserSuyash Prasad
Jan 28, 2020·Cardiology in the Young·Drishti TolaniSwati Sehgal
Oct 18, 2019·Neurology·Laurike HarlaarNadine A M E van der Beek
Aug 18, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lara KohlerNina Raben
Mar 27, 2018·Paediatric Anaesthesia·Linelot BosmanLonneke M Staals
Mar 25, 2019·Orphanet Journal of Rare Diseases·E PoelmanA T van der Ploeg
Jun 10, 2020·Journal of Inherited Metabolic Disease·Claudio SempliciniUNKNOWN French Pompe Study Group
Oct 6, 2020·Frontiers in Immunology·Punita GuptaPriya S Kishnani
Jan 7, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Aleena A KhanPriya S Kishnani
Sep 16, 2020·Orphanet Journal of Rare Diseases·J J A van den DorpelN A M E van der Beek
Jan 1, 2018·Molecular Genetics and Metabolism·Ankit K DesaiPriya S Kishnani

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Methods Mentioned

BETA
enzyme-linked immunosorbent assay
ELISA
enzyme replacement therapy

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