Immunomodulatory, liver depot gene therapy for Pompe disease.
Acid alpha-glucosidase
Antibody response
Enzyme replacement therapy
Gene therapy
Glycogen storage disease
Immune tolerance
Pompe disease
Journal
Cellular immunology
ISSN: 1090-2163
Titre abrégé: Cell Immunol
Pays: Netherlands
ID NLM: 1246405
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
01
11
2017
revised:
15
12
2017
accepted:
27
12
2017
pubmed:
4
1
2018
medline:
7
5
2020
entrez:
4
1
2018
Statut:
ppublish
Résumé
Pompe disease is caused by mutations in acid alpha glucosidase (GAA) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and can be fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) improves muscle function by reducing glycogen accumulation. Limitations of ERT include a short half-life and the formation of antibodies that result in reduced efficacy. By harnessing the immune tolerance induction properties of the liver, liver-targeted gene delivery (with an adeno-associated virus vector containing a liver specific promoter), suppresses immunity against the GAA introduced by gene therapy. This induces immune tolerance to rhGAA by activating regulatory T cells and simultaneously, corrects GAA deficiency. Potentially, liver-targeted gene therapy can be performed once with lasting effects, by administering a relatively low dose of an adeno-associated virus type 8 vector to replace and induce immune tolerance to GAA.
Identifiants
pubmed: 29295737
pii: S0008-8749(17)30238-1
doi: 10.1016/j.cellimm.2017.12.011
pmc: PMC6026080
mid: NIHMS931846
pii:
doi:
Substances chimiques
GAA protein, human
EC 3.2.1.20
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
103737Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR065873
Pays : United States
Organisme : NIAMS NIH HHS
ID : U01 AR071693
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD054795
Pays : United States
Informations de copyright
Copyright © 2018 Elsevier Inc. All rights reserved.
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