Page 22 - Read Online
P. 22
Braun. J Transl Genet Genom. 2025;9:35-47 https://dx.doi.org/10.20517/jtgg.2024.79 Page 47
53. Mingozzi F, High KA. Immune responses to AAV vectors: overcoming barriers to successful gene therapy. Blood. 2013;122:23-36.
DOI PubMed PMC
54. McDouall RM, Dunn MJ, Dubowitz V. Expression of class I and class II MHC antigens in neuromuscular diseases. J Neurol Sci.
1989;89:213-26. DOI
55. Faust SM, Bell P, Cutler BJ, et al. CpG-depleted adeno-associated virus vectors evade immune detection. J Clin Invest.
2013;123:2994-3001. DOI PubMed PMC
56. VandenDriessche T, Chuah MK. Vector decoys trick the immune response. Sci Transl Med. 2013;5:194fs28. DOI PubMed
57. Mendell JR, Sahenk Z, Lehman K. et al. Assessment of systemic delivery of rAAVrh74.MHCK7.micro-dystrophin in children with
Duchenne muscular dystrophy: a nonrandomized controlled trial. JAMA Neurol. 2020;77:1122-31. DOI PubMed PMC
58. Lek A, Atas E, Lin B, et al. Meeting report: 2023 nuscular dystrophy association summit on “safety and challenges in gene therapy of
neuromuscular diseases”. J Neuromuscul Dis. 2024;11:1139-60. DOI PubMed
59. Yue Y, Wasala NB, Bostick B, Duan D. 100-fold but not 50-fold dystrophin overexpression aggravates electrocardiographic defects in
the mdx model of Duchenne muscular dystrophy. Mol Ther Methods Clin Dev. 2016;3:16045. DOI PubMed PMC
60. Hart CC, Lee YI, Xie J. et al. Potential limitations of microdystrophin gene therapy for Duchenne muscular dystrophy. JCI Insight.
2024;9:e165869. DOI PubMed PMC
61. Kodippili K, Hakim CH, Pan X, et al. Dual AAV gene therapy for Duchenne muscular dystrophy with a 7-kb mini-dystrophin gene in
the canine model. Hum Gene Ther. 2018; 3:299-311. DOI
62. Albini S, Palmieri L, Dubois A, Bourg N, Lostal W, Richard I. Assessment of therapeutic potential of a dual AAV approach for
Duchenne muscular dystrophy. Int J Mol Sci. 2023;24:11421. DOI PubMed PMC
63. Zhou Y, Zhang C, Xiao W, Herzog RW, Han R. Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice.
Nature Com. 2024;15:6141. DOI PubMed PMC
64. Tinsley J. M., Davies K.E. Utrophin: a potential replacement for dystrophin? Neuromuscul Disord. 1993;3:537-9. DOI PubMed
65. Szwec S, Kaplucha Z, Chamberlain JS, Konieczny P. Dystrophin- and utrophin-based therapeutic approaches for treatment of
Duchenne muscular dystrophy: a comparative review. BioDrugs. 2024;38:95-119. DOI PubMed PMC
66. Xu R, Jia Y, Zygmunt DA, Martin PT. rAAVrh74.MCK.GALGT2 protects against loss of hemodynamic function in the aging mdx
mouse heart. Mol Ther. 2019;27:636-49. DOI PubMed PMC
67. Martin PT, Zygmunt DA, Ashbrook A, et al. Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with
rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
PLoS One. 2021;16:e0248721. DOI PubMed PMC
68. Flanigan KM, Vetter TA, Simmons TR, et al. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy
using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022;27:47-60. DOI PubMed PMC
69. Notice regarding impairment loss for products under development. Available from: https://www.astellas.com/en/news/25731 [Last
accessed on 24 Jan 2025].
70. Hordeaux J, Lamontagne RJ, Song C, et al. High-dose systemic adeno-associated virus vector administration causes liver and
sinusoidal endothelial cell injury. Mol Ther. 2024;32:952-68. DOI PubMed PMC
71. Weinmann J, Weis S, Sippel J, et al. Identification of a myotropic AAV by massively parallel in vivo evaluation of barcoded capsid
variants. Nat Commun. 2020;11:5432. DOI PubMed PMC
72. Hong AV, Seul L, Petat E, et al. An engineered AAV targeting integrin alpha V beta 6 presents improved myotropism across species.
Nat Commun. 2024;15:7965. DOI PubMed PMC
73. Phares S, Trusheim M, Emond SK, Pearson SD. Managing the challenges of paying for gene therapy: strategies for market action and
policy reform in the United States. J Comp Eff Res. 2024;13:e240118. DOI PubMed PMC

