Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. First-generation recombinant human GAA (rhGAA) ERT (al...

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Bibliographic Details
Main Authors: Barry J. Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-10-01
Series:Frontiers in Neurology
Subjects:
Pompe disease
glycogen storage disease type II
lysosomal storage disorders
enzyme replacement therapy
n-butyldeoxynojirimycin
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1451512/full
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