REFERENCES

1. Sun C, Shen L, Zhang Z, Xie X. Therapeutic strategies for duchenne muscular dystrophy: an update. Genes. 2020;11:837.

2. Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15:141.

3. Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmüller H. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. 2020;35:643-53.

4. Armstrong N, Apkon S, Berggren KN, et al. The early care (0-3 Years) in duchenne muscular dystrophy meeting report. J Neuromuscul Dis. 2024;11:525-33.

5. Sarker S, Eshaque TB, Soorajkumar A, et al. Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population. Sci Rep. 2023;13:21547.

6. Selvatici R, Rossi R, Fortunato F, et al. Ethnicity-related DMD genotype landscapes in European and non-European countries. Neurol Genet. 2021;7:e536.

7. Amr K, Fahmy N, El-Kamah G. Genomic insights into Duchene muscular dystrophy: analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants. J Genet Eng Biotechnol. 2024;22:100436.

8. Zinina E, Bulakh M, Chukhrova A, et al. Specificities of the DMD gene mutation spectrum in Russian patients. Int J Mol Sci. 2022;23:12710.

9. Neri M, Rossi R, Trabanelli C, et al. The genetic landscape of dystrophin mutations in Italy: a nationwide study. Front Genet. 2020;11:131.

10. Bladen CL, Salgado D, Monges S, et al. The TREAT-NMD DMD global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015;36:395-402.

11. Esposito G, Tremolaterra MR, Marsocci E, et al. Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene. J Hum Genet. 2017;62:1057-63.

12. Oshima J, Magner DB, Lee JA, et al. Regional genomic instability predisposes to complex dystrophin gene rearrangements. Hum Genet. 2009;126:411-23.

13. Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet. 1992;1:599-603.

14. Bez Batti Angulski A, Hosny N, Cohen H, et al. Duchenne muscular dystrophy: disease mechanism and therapeutic strategies. Front Physiol. 2023;14:1183101.

15. Ricci G, Bello L, Torri F, Schirinzi E, Pegoraro E, Siciliano G. Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy. Neurol Sci. 2022;43:625-33.

16. Tyler KL. Origins and early descriptions of "Duchenne muscular dystrophy". Muscle Nerve. 2003;28:402-22.

17. Fortunato F, Rossi R, Falzarano MS, Ferlini A. Innovative therapeutic approaches for Duchenne muscular dystrophy. J Clin Med. 2021;10:820.

18. Szabo SM, Salhany RM, Deighton A, Harwood M, Mah J, Gooch KL. The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review. Orphanet J Rare Dis. 2021;16:237.

19. Ji C, Kariyawasam DS, Sampaio H, Lorentzos M, Jones KJ, Farrar MA. Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders. Lancet Reg Health West Pac. 2024;45:101049.

20. Tavakoli NP, Gruber D, Armstrong N, et al. Newborn screening for Duchenne muscular dystrophy: a two-year pilot study. Ann Clin Transl Neurol. 2023;10:1383-96.

21. Park S, Maloney B, Caggana M, Tavakoli NP. Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy. Muscle Nerve. 2022;65:652-8.

22. Chien YH, Lee NC, Weng WC, et al. Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Neurol Sci. 2022;43:4563-6.

23. Jia C, Zhao D, Li Y, et al. Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China. Clin Chim Acta. 2023;539:90-6.

24. Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013;21:1049-53.

25. Parent Project Muscular Dystrophy. Available from https://www.parentprojectmd.org/advocacy/newborn-screening-action-center/ [Last accessed on 27 Nov 2025].

26. Chen L, Luo X, Wang H, Tian Y, Liu Y. Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases. BMC Med Genomics. 2024;17:227.

27. Olivucci G, Iovino E, Innella G, Turchetti D, Pippucci T, Magini P. Long read sequencing on its way to the routine diagnostics of genetic diseases. Front Genet. 2024;15:1374860.

28. Owusu R, Savarese M. Long-read sequencing improves diagnostic rate in neuromuscular disorders. Acta Myol. 2023;42:123-8.

29. Ling C, Dai Y, Geng C, et al. Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies. iScience. 2023;26:108365.

30. Wells DJ. What is the level of dystrophin expression required for effective therapy of Duchenne muscular dystrophy? J Muscle Res Cell Motil. 2019;40:141-50.

31. Chen G, Wei T, Yang H, Li G, Li H. CRISPR-based therapeutic gene editing for duchenne muscular dystrophy: advances, challenges and perspectives. Cells. 2022;11:2964.

32. Eslahi A, Alizadeh F, Avan A, et al. New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy. Gene. 2023;867:147358.

33. Chemello F, Olson EN, Bassel-Duby R. CRISPR-editing therapy for duchenne muscular dystrophy. Hum Gene Ther. 2023;34:379-87.

34. Godfrey C, Muses S, McClorey G, et al. How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse. Hum Mol Genet. 2015;24:4225-37.

35. Heslop E, Turner C, Irvin A, Muntoni F, Straub V, Guglieri M; workshop participants. Gene therapy in Duchenne muscular dystrophy: identifying and preparing for the challenges ahead. Neuromuscul Disord. 2021;31:69-78.

36. Roberts TC, Wood MJA, Davies KE. Therapeutic approaches for Duchenne muscular dystrophy. Nat Rev Drug Discov. 2023;22:917-34.

37. Chen SK, Hawley ZCE, Zavodszky MI, et al. Efficacy and safety of a SOD1-targeting artificial miRNA delivered by AAV9 in mice are impacted by miRNA scaffold selection. Mol Ther Nucleic Acids. 2023;34:102057.

38. Xie YL, Wang JY, He Y, et al. The use of melittin to enhance transgene expression mediated by recombinant adeno-associated virus serotype 2 vectors both in vitro and in vivo. J Integr Med. 2023;21:106-15.

39. Mendell JR, Muntoni F, McDonald CM, et al. AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial. Nat Med. 2025;31:332-41.

40. Oskoui M, Caller TA, Parsons JA, et al. Delandistrogene Moxeparvovec gene therapy in individuals with duchenne muscular dystrophy: evidence in focus: report of the AAN guidelines subcommittee. Neurology. 2025;104:e213604.

41. Manini A, Abati E, Nuredini A, Corti S, Comi GP. Adeno-associated virus (AAV)-mediated gene therapy for duchenne muscular dystrophy: the issue of transgene persistence. Front Neurol. 2021;12:814174.

42. Wasala NB, Yue Y, Hu B, et al. Lifelong outcomes of systemic adeno-associated virus micro-dystrophin gene therapy in a murine duchenne muscular dystrophy model. Hum Gene Ther. 2023;34:449-58.

43. Shen W, Liu S, Ou L. rAAV immunogenicity, toxicity, and durability in 255 clinical trials: a meta-analysis. Front Immunol. 2022;13:1001263.

44. Mollard A, Peccate C, Forand A, et al. Muscle regeneration affects adeno associated Virus 1 mediated transgene transcription. Sci Rep. 2022;12:9674.

45. Duan D. Systemic AAV micro-dystrophin gene therapy for duchenne muscular dystrophy. Mol Ther. 2018;26:2337-56.

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.

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.

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.

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.

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.

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.

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.

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.

55. Li C, Samulski RJ. Engineering adeno-associated virus vectors for gene therapy. Nat Rev Genet. 2020;21:255-72.

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.

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.

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.

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.

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.

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.

62. Aartsma-Rus A. The future of exon skipping for Duchenne muscular dystrophy. Hum Gene Ther. 2023;34:372-8.

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.

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.

65. Politano L. Read-through approach for stop mutations in Duchenne muscular dystrophy. An update. Acta Myol. 2021;40:43-50.

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.

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.

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.

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.

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.

71. Vokinger KN, Hwang TJ, Glaus CEG, Kesselheim AS. Therapeutic value assessments of novel medicines in the US and Europe, 2018-2019. JAMA Netw Open. 2022;5:e226479.

72. Mazzone E, Martinelli D, Berardinelli A, et al. North Star Ambulatory assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2010;20:712-6.

73. Mayhew AG, Cano SJ, Scott E, et al. Detecting meaningful change using the North Star Ambulatory assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2013;55:1046-52.

74. McDonald CM, Henricson EK, Abresch RT, et al. The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve. 2013;48:357-68.

75. Henricson E, Abresch R, Han JJ, et al. The 6-minute walk test and person-reported outcomes in boys with Duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinically-meaningful changes over one year. PLoS Curr. 2013;5:ecurrents.

76. Ayyar Gupta V, Pitchforth JM, Domingos J, et al. Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS One. 2023;18:e0283669.

77. Muntoni F, Signorovitch J, Sajeev G, et al. Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): a multi-center study. PLoS One. 2024;19:e0304984.

78. Henricson E, Abresch R, Han JJ, et al. Percent-predicted 6-minute walk distance in duchenne muscular dystrophy to account for maturational influences. PLoS Curr. 2012;4:RRN1297.

79. Mayhew A, Mazzone ES, Eagle M, et al. Development of the performance of the upper limb module for duchenne muscular dystrophy. Dev Med Child Neurol. 2013;55:1038-45.

80. Mayhew AG, Coratti G, Mazzone ES, et al. Performance of upper limb module for duchenne muscular dystrophy. Dev Med Child Neurol. 2020;62:633-9.

81. Bushby K, Finkel R, Wong B, et al. Safety and effectiveness of ataluren in patients with nonsense mutation Duchenne muscular dystrophy: 2022 interim analysis from the STRIDE Registry compared with the CINRG Duchenne Natural History Study. J Neurol. 2023;270:2885-95.

82. Henricson EK, Abresch RT, Cnaan A, et al. The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle Nerve. 2013;48:55-67.

83. Horrow C, Kesselheim AS. Confronting high costs and clinical uncertainty: innovative payment models for gene therapies. Health Aff. 2023;42:1532-40.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/