Page 35 - Read Online
P. 35
Gonzalez Castillo et al. J Transl Genet Genom. 2025;9:338-51 https://dx.doi.org/10.20517/jtgg.2025.57 Page 350
43. Shen W, Liu S, Ou L. rAAV immunogenicity, toxicity, and durability in 255 clinical trials: a meta-analysis. Front Immunol.
2022;13:1001263. DOI
44. Mollard A, Peccate C, Forand A, et al. Muscle regeneration affects adeno associated Virus 1 mediated transgene transcription. Sci Rep.
2022;12:9674. DOI PubMed PMC
45. Duan D. Systemic AAV micro-dystrophin gene therapy for duchenne muscular dystrophy. Mol Ther. 2018;26:2337-56. DOI PubMed
PMC
46. Kumar SRP, Duan D, Herzog RW. Immune responses to muscle-directed adeno-associated viral gene transfer in clinical studies. Hum
Gene Ther. 2023;34:365-71. DOI PubMed PMC
47. Zaiss AK, Cotter MJ, White LR, et al. Complement is an essential component of the immune response to adeno-associated virus
vectors. J Virol. 2008;82:2727-40. DOI
48. Martino AT, Suzuki M, Markusic DM, et al. The genome of self-complementary adeno-associated viral vectors increases Toll-like
receptor 9-dependent innate immune responses in the liver. Blood. 2011;117:6459-68. DOI PubMed PMC
49. U.S Food and Drug Administration. FDA investigating deaths due to acute liver failure in non-ambulatory duchenne muscular
dystrophy patients following ELEVIDYS. Available from https://www.fda.gov/vaccines-blood-biologics/safety-availability-biologics/
fda-investigating-deaths-due-acute-liver-failure-non-ambulatory-duchenne-muscular-dystrophy-patients [Last accessed on 19 Nov
2025].
50. Bengtsson NE, Tasfaout H, Chamberlain JS. The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy. Mol
Ther. 2025;33:2035-51. DOI PubMed PMC
51. Larrey D, Delire B, Meunier L, Zahhaf A, De Martin E, Horsmans Y. Drug-induced liver injury related to gene therapy: a new
challenge to be managed. Liver Int. 2024;44:3121-37. DOI PubMed
52. Spathis R, Kuriplach DR, Narvesen S, et al. Enhancing AAV-microdystrophin gene therapy after repeat dosing by blocking
phagocytosis. Front Immunol. 2025;16:1527840. DOI PubMed PMC
53. Pinto MS, Martí-Melero L, Fernandez-Alarcon J, et al. Polymer-based coating of adeno-associated viral particles as a new strategy to
evade immune response for DMD treatment. J Control Release. 2025;384:113896. DOI
+
54. Bertolini TB, Shirley JL, Zolotukhin I, et al. Effect of CpG depletion of vector genome on CD8 T cell responses in AAV gene
therapy. Front Immunol. 2021;12:672449. DOI PubMed PMC
55. Li C, Samulski RJ. Engineering adeno-associated virus vectors for gene therapy. Nat Rev Genet. 2020;21:255-72. DOI PubMed
56. Bönnemann CG, Belluscio BA, Braun S, Morris C, Singh T, Muntoni F. Dystrophin immunity after gene therapy for duchenne's
muscular dystrophy. N Engl J Med. 2023;388:2294-6. DOI PubMed
57. Potter RA, Moeller IH, Khan S, et al. Immunologic investigations into transgene directed immune-mediated myositis following
delandistrogene moxeparvovec gene therapy. Sci Rep. 2025;15:4. DOI PubMed PMC
58. Verma S, Nwosu SN, Razdan R, et al. Seroprevalence of adeno-associated virus neutralizing antibodies in males with duchenne
muscular dystrophy. Hum Gene Ther. 2023;34:430-8. DOI PubMed PMC
59. Leckie J, Zia A, Yokota T. An updated analysis of exon-skipping applicability for Duchenne muscular dystrophy using the UMD-
DMD database. Genes. 2024;15:1489. DOI PubMed PMC
60. Iff J, Done N, Tuttle E, et al. Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular
dystrophy and contextualization with natural history controls. Muscle Nerve. 2024;70:60-70. DOI
61. Patterson G, Conner H, Groneman M, Blavo C, Parmar MS. Duchenne muscular dystrophy: current treatment and emerging exon
skipping and gene therapy approach. Eur J Pharmacol. 2023;947:175675. DOI PubMed
62. Aartsma-Rus A. The future of exon skipping for Duchenne muscular dystrophy. Hum Gene Ther. 2023;34:372-8. DOI PubMed
63. Matsuo M. 30 years since the proposal of exon skipping therapy for Duchenne muscular dystrophy and the future of pseudoexon
skipping. Int J Mol Sci. 2025;26:1303. DOI PubMed PMC
64. Chwalenia K, Wood MJA, Roberts TC. Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for
Duchenne muscular dystrophy. J Muscle Res Cell Motil. 2025. DOI PubMed PMC
65. Politano L. Read-through approach for stop mutations in Duchenne muscular dystrophy. An update. Acta Myol. 2021;40:43-50. DOI
PubMed PMC
66. Ng MY, Li H, Ghelfi MD, Goldman YE, Cooperman BS. Ataluren and aminoglycosides stimulate read-through of nonsense codons by
orthogonal mechanisms. Proc Natl Acad Sci USA. 2021;118:e2020599118. DOI PubMed PMC
67. Mercuri E, Osorio AN, Muntoni F, et al. Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE
Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. J Neurol. 2023;270:3896-
913. DOI PubMed PMC
68. Péladeau C, Jasmin BJ. Identifying FDA-approved drugs that upregulate utrophin a as a therapeutic strategy for duchenne muscular
dystrophy. In: Maruyama R, Yokota T, editors. Muscular dystrophy therapeutics. New York: Springer; 2023. pp. 495-510. DOI
69. Soblechero-Martín P, López-Martínez A, de la Puente-Ovejero L, Vallejo-Illarramendi A, Arechavala-Gomeza V. Utrophin modulator
drugs as potential therapies for Duchenne and Becker muscular dystrophies. Neuropathol Appl Neurobiol. 2021;47:711-23. DOI
PubMed PMC
70. Kashoki M, Hanaizi Z, Yordanova S, et al. A comparison of EMA and FDA decisions for new drug marketing applications 2014-2016:
concordance, discordance, and why. Clin Pharmacol Ther. 2020;107:195-202. DOI PubMed PMC
71. Vokinger KN, Hwang TJ, Glaus CEG, Kesselheim AS. Therapeutic value assessments of novel medicines in the US and Europe, 2018-

