Page 21 - Read Online

Page 46 Braun. J Transl Genet Genom. 2025;9:35-47 https://dx.doi.org/10.20517/jtgg.2024.79

motor function in Duchenne muscular dystrophy: a multi-institution meta-analysis with implications for clinical trials. Neurology.
2023;100:e1540-54. DOI
26. Chemello F, Olson EN, Bassel-Duby R. CRISPR-editing therapy for Duchenne muscular dystrophy. Hum Gene Ther. 2023;34:379-87.
DOI PubMed PMC
27. Lek A, Wong B, Keeler A, et al. Death after high-dose rAAV9 gene therapy in a patient with Duchenne’s muscular dystrophy. N Engl
J Med. 2023;389:1203-10. DOI
28. Romero NB, Braun S, Benveniste O, et al. Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular
dystrophy. Hum Gene Ther. 2004;15:1065-76. DOI
29. Wooddell C. Dose response in rodents and nonhuman primates after hydrodynamic limb vein delivery of naked plasmid DNA. Hum
Gene Ther. 2011;22:889-903. DOI
30. Fan Z, Kocis K, Valley R, et al. Safety and feasibility of high-pressure transvenous limb perfusion with 0.9% saline in human muscular
dystrophy. Mol Ther. 2012;20:456-61. DOI PubMed PMC
31. Fan Z, Kocis K, Valley R, et al. High-pressure transvenous perfusion of the upper extremity in human muscular dystrophy: a safety
study with 0.9% saline. Hum Gene Ther. 2015;26:614-21. DOI PubMed PMC
32. Braun S. Gene-based therapies of neuromuscular disorders: an update and the pivotal role of patient organizations in their discovery
and implementation. J Gene Med. 2013;15:397-413. DOI PubMed
33. Scherman D. Advanced textbook on gene transfer, gene therapy and genetic pharmacology: principles, delivery and pharmacological
and biomedical applications of nucleotide-based therapie. 2th ed. Daniel Scherman: Imperial College Press. 2014 pp 17-29.
34. England SB, Nicholson LV, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin.
Nature. 1990;343:180-2. DOI
35. Fortunato F, Tonelli L, Farnè M, Selvatici R, Ferlini A. DMD deletions underlining mild dystrophinopathies: literature review
highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis. Front Neurol.
2023;14:1288721. DOI PubMed PMC
36. Duan D. Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy. Mol Ther. 2018;26:2337-56. DOI
PubMed PMC
37. Morin A, Stantzou A, Petrova ON, et al. Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle.
Proc Natl Acad Sci U S A. 2023;120:e2206324120. DOI PubMed PMC
38. FDA expands approval of gene therapy for patients with Duchenne muscular dystrophy. Available from: https://www.fda.gov/news-
events/press-announcements/fda-expands-approval-gene-therapy-patients-duchenne-muscular-dystrophy [Last accessed on 24 Jan
2025].
39. Chamberlain JS, Robb M, Braun S, et al. Microdystrophin expression as a surrogate endpoint for Duchenne muscular dystrophy
clinical trials. Hum Gene Ther. 2023;34:404-15. DOI PubMed PMC
40. Boehler JF, Brown KJ, Beatka M, et al. Clinical potential of microdystrophin as a surrogate endpoint. Neuromuscul Disord.
2023;33:40-9. DOI
41. Shen W, Liu S, Ou L. rAAV immunogenicity, toxicity, and durability in 255 clinical trials: a meta-analysis. Front Immunol.
2022;13:1001263. DOI
42. Kwon JB, Ettyreddy AR, Vankara A, et al. In vivo gene editing of muscle stem cells with adeno-associated viral vectors in a mouse
model of Duchenne muscular dystrophy. Mol Ther Methods Clin Dev. 2020;19:320-9. DOI
43. Vulin A, Barthélémy I, Goyenvalle A, et al. Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon
skipping. Mol Ther. 2012;20:2120-33. DOI PubMed PMC
44. Le Hir M, Goyenvalle A, Peccate C, et al. AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-
skipping therapy. Mol Ther. 2013;21:1551-8. DOI PubMed PMC
45. Dupont JB, Guo J, Renaud-Gabardos E, et al. AAV-mediated gene transfer restores a normal muscle transcriptome in a canine model
of X-linked myotubular myopathy. Mol Ther. 2020;28:382-93. DOI PubMed PMC
46. Le Guiner C, Fraysse B, Testault I, et al. More than nine year survival of a GRMD dog after injection of AAV-microdystrophin gene
therapy. Mol Ther. 2023;31:pp53.
47. Boutin S, Monteilhet V, Veron P, et al. Prevalence of serum IgG and neutralizing factors against adeno-associated virus (AAV) types
1, 2, 5, 6, 8, and 9 in the healthy population: implications for gene therapy using AAV vectors. Hum Gene Ther. 2010;21:704-12. DOI
48. 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
49. Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of serum rAAV serotype-specific antibodies in patients with
Duchenne muscular dystrophy, Becker muscular dystrophy, inclusion body myositis, or GNE myopathy. Hum Gene Ther.
2017;28:737-46. DOI PubMed PMC
50. Yang TY, Braun M, Lembke W, et al. Immunogenicity assessment of AAV-based gene therapies: an IQ consortium industry white
paper. Mol Ther Methods Clin Dev. 2022;26:471-94. DOI PubMed PMC
51. Gross DA, Tedesco N, Leborgne C, Ronzitti G. Overcoming the challenges imposed by humoral immunity to AAV vectors to achieve
safe and efficient gene transfer in seropositive patients. Front Immunol. 2022;13:857276. DOI PubMed PMC
52. Leborgne C, Barbon E, Alexander JM, et al. IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV
neutralizing antibodies. Nat Med. 2020;26:1096-101. DOI