Cited by 165Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusRNA Interference and Gene Delivery

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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

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Zhu, Xuling, Yin, Ling, Theisen, Matt, Zhuo, Jenny, Siddiqui, Summar, Levy, Becca, Presnyak, Vladimir, Frassetto, Andrea, Milton, Jaclyn, Salerno, Timothy, Benenato, Kerry E., Milano, Joe, Lynn, Andy, Sabnis, Staci, Burke, Kristine, Besin, Gilles, Lukacs, Christine M., Guey, Lin T., Finn, Patrick F., Martini, Paolo G.V.·2019·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2019.02.003PMC PMC6451694

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Abstract

Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues. Although enzyme replacement therapy (ERT) is considered standard of care, the long-term effects of ERT on renal and cardiac manifestations remain uncertain and thus novel therapies are desirable. We herein report preclinical studies evaluating systemic messenger RNA (mRNA) encoding human α-Gal A in wild-type (WT) mice, α-Gal A-deficient mice, and WT non-human primates (NHPs). The pharmacokinetics and distribution of h-α-Gal A mRNA encoded protein in WT mice demonstrated prolonged half-lives of α-Gal A in tissues and plasma. Single intravenous administration of h-α-Gal A mRNA to Gla-deficient mice showed dose-dependent protein activity and substrate reduction. Moreover, long duration (up to 6 weeks) of substrate reductions in tissues and plasma were observed after a single injection. Furthermore, repeat i.v. administration of h-α-Gal A mRNA showed a sustained pharmacodynamic response and efficacy in Fabry mice model. Lastly, multiple administrations to non-human primates confirmed safety and translatability. Taken together, these studies across species demonstrate preclinical proof-of-concept of systemic mRNA therapy for the treatment of Fabry disease and this approach may be useful for other lysosomal storage disorders.

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Authors: Zhu, X., Yin, L., Theisen, M., Zhuo, J., Siddiqui, S., Levy, B., Presnyak, V., Frassetto, A., Milton, J., Salerno, T., Benenato, K. E., Milano, J., Lynn, A., Sabnis, S., Burke, K., Besin, G., Lukacs, C. M., Guey, L. T., Finn, P. F., & Martini, P. G. V.
Corresponding author: Martini, Paolo G.V.
ORCID: Yin, Ling
Presnyak, Vladimir
Frassetto, Andrea
Salerno, Timothy
Benenato, Kerry E.
Burke, Kristine
Besin, Gilles
Guey, Lin T.
Finn, Patrick F.
Martini, Paolo G.V.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2019-04
Volume: 104
Issue: 4
Pages: 625-637
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2019.02.003
PMC: PMC6451694
OpenAlex: W2921621642
Cited by: 165
References: 51
Citations by year: 2026: 12 · 2025: 30 · 2024: 26 · 2023: 20 · 2022: 32 · 2021: 23 · 2020: 14 · 2019: 8
FWCI: 13.16
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 186 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Moderna
Topics: Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
Keywords: Fabry disease, alpha-galactosidase A, globotriaosylceramide, lysosomal storage disease, enzyme replacement therapy, pharmacokinetics, pharmacodynamics, non-human primates, substrate reduction, X-linked disorders
MeSH terms: alpha-Galactosidase, Fabry Disease, Animals, Disease Models, Animal, Endocytosis, Humans, Lipids, Lysosomes, Macaca fascicularis, Male, RNA, Messenger, Tissue Distribution, Trihexosylceramides, Genetic Therapy, Mice, Knockout, Mice, Enzyme Replacement Therapy

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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

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