1. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
- Author
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Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, and on behalf of the POM-001/002 Investigators
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Chronic Liver Disease and Cirrhosis ,Rare Diseases ,Liver Disease ,Lung ,Clinical Research ,Digestive Diseases ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,Adult ,Enzyme Replacement Therapy ,Female ,Glycogen Storage Disease Type II ,Humans ,Male ,Middle Aged ,Muscle ,Skeletal ,alpha-Glucosidases ,Reveglucosidase alfa ,Late-onset Pompe disease ,Enzyme replacement therapy ,Pharmacokinetics ,Safety ,Efficacy ,Respiratory ,Pulmonary ,POM-001/002 Investigators ,Other Medical and Health Sciences ,Genetics & Heredity ,Genetics ,Clinical sciences - Abstract
BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was
- Published
- 2017