References
- Gao Q, McNally EM. The dystrophin complex: structure, function and implications for therapy. Compr Physiol. 2015;5:1223–1239.
- Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for duchenne muscular dystrophy: an evidence review. Orphanet J Rare Diseases. 2017;12(1):79. doi: 10.1186/s13023-017-0631-3
- Ciafaloni E, Kumar A, Liu K, et al. Age at onset of first signs or symptoms predicts age at loss of ambulation in duchenne and becker muscular dystrophy: data from the MD STARnet. J Pediatr Rehabil Med. 2016;9:5–11.
- Nowak KJ, Davies KE. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep. 2004;5:872–876. doi: 10.1038/sj.embor.7400221
- Dumont NA, Wang YX, von Maltzahn J, et al. Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division. Nat Med. 2015;21(12):1455–1463. doi: 10.1038/nm.3990
- Battini R, Chieffo D, Bulgheroni S, et al. Cognitive profile in duchenne muscular dystrophy boys without intellectual disability: the role of executive functions. Neuro Disord. 2018;28(2):122–128. doi: 10.1016/j.nmd.2017.11.018
- Bresolin N, Castelli E, Comi GP, et al. Cognitive impairment in duchenne muscular dystrophy. Neuromuscular Disorders. 1994;4(4):359–369. doi: 10.1016/0960-8966(94)90072-8
- Piovesan A, Caracausi M, Antonaros F, et al. GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics. Database. 2016 cited 2021 Nov 29;2016. doi: 10.1093/database/baw153
- Chelly J, Hamard G, Koulakoff A, et al. Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature. 1990;344(6261):64–65. doi: 10.1038/344064a0
- Górecki DC, Monaco AP, Derry JM, et al. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet. 1992;1:505–510. doi: 10.1093/hmg/1.7.505
- Dystrophin isoforms and their expression [Internet]. [cited 2021 May 29]. Available from: https://www.dmd.nl/isoforms.html
- Deconinck N, Dan B. Pathophysiology of duchenne muscular dystrophy: current hypotheses. Pediatr Neurol. 2007;36(1):1–7. doi: 10.1016/j.pediatrneurol.2006.09.016
- The dystrophin gene and cDNA [Internet]. [cited 2023 May 4]. Available from: https://www.dmd.nl/cdnagene.html
- Benedetti S, Uno N, Hoshiya H, et al. Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next‐generation human artificial chromosomes for duchenne muscular dystrophy. EMBO Mol Med. 2018;10(2):254–275. doi: 10.15252/emmm.201607284
- Meng J, Sweeney NP, Doreste B, et al. Restoration of functional full-length dystrophin after intramuscular transplantation of foamy virus-transduced myoblasts. Hum Gene Ther. 2020;31(3–4):241–252. doi: 10.1089/hum.2019.224
- Albini S, Palmieri L, Dubois A, et al. Assessment of therapeutic potential of a dual AAV approach for duchenne muscular dystrophy. Int J Mol Sci. 2023;24(14):11421. doi: 10.3390/ijms241411421
- Split intein-mediated protein trans-splicing to express large dystrophins. 2023 [cited 2023 Jul 20]. Available from: https://www.researchsquare.com
- England SB, Nicholson LVB, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 1990;343(6254):180–182. doi: 10.1038/343180a0
- Yuasa K, Ishii A, Miyagoe Y, et al. Introduction of rod-deleted dystrophin cDNA, delta DysM3, into mdx skeletal muscle using adenovirus vector. Nihon Rinsho. 1997;55:3148–3153.
- Hakim CH, Wasala NB, Pan X, et al. A five-repeat micro-dystrophin gene ameliorated dystrophic phenotype in the severe DBA/2J-mdx model of duchenne muscular dystrophy. Molecular therapy - Methods & clinical development. 2017;6:216–230. doi: 10.1016/j.omtm.2017.06.006
- Harper SQ, Hauser MA, DelloRusso C, et al. Modular flexibility of dystrophin: implications for gene therapy of duchenne muscular dystrophy. Nat Med. 2002;8:253–261.
- Wang B, Li J, Xiao X. Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc Natl Acad Sci U S A. 2000;97(25):13714–13719. doi: 10.1073/pnas.240335297
- Davies KE, Guiraud S. Micro-dystrophin genes bring hope of an effective therapy for duchenne muscular dystrophy. Mol Ther. 2019;27(3):486–488. doi: 10.1016/j.ymthe.2019.01.019
- 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(9):1122. doi: 10.1001/jamaneurol.2020.1484
- Willcocks RJ, Forbes SC, Walter GA, et al. Assessment of rAavrh.74.Mhck7.micro-dystrophin gene therapy using magnetic resonance imaging in children with duchenne muscular dystrophy. JAMA Netw Open. 2021;4(1):e2031851. doi: 10.1001/jamanetworkopen.2020.31851
- Zaidman C, Proud C, McDonald C, et al. One-year data from ENDEAVOR, a phase 1b trial of delandistrogene moxeparvovec (SRP-9001) in patients with duchenne muscular dystrophy (DMD) (S48.003). Neurology. 2023 [[cited 2023 Jul 19]];100. InternetAvailable from: https://n.neurology.org/content/100/17_Supplement_2/3717
- Duan D. Systemic AAV micro-dystrophin gene therapy for duchenne muscular dystrophy. Mol Ther. 2018;26(10):2337–2356. doi: 10.1016/j.ymthe.2018.07.011
- Le Guiner C, Servais L, Montus M, et al. Long-term microdystrophin gene therapy is effective in a canine model of duchenne muscular dystrophy. Nat Commun. 2017;8(1):16105. doi: 10.1038/ncomms16105
- Généthon annonce le traitement d’un premier patient dans le cadre de son essai clinique de thérapie génique pour la myopathie de Duchenne [Internet]. Généthon. 2021 [cited 2023 Mar 16]. Available from: https://www.genethon.fr/genethon-annonce-le-traitement-dun-premier-patient-dans-le-cadre-de-son-essai-clinique-de-therapie-genique-pour-la-myopathie-de-duchenne/.
- Srivastava A. In vivo tissue-tropism of adeno-associated viral vectors. Curr Opin Virol. 2016;21:75–80. doi: 10.1016/j.coviro.2016.08.003
- Philippidis A. After patient death, FDA places hold on pfizer duchenne muscular dystrophy gene therapy trial. Hum Gene Ther. 2022;33(3–4):111–115. doi: 10.1089/hum.2022.29198.bfs
- MS MW. #MDA2022 – DMD gene therapy PF-06939926 safe at high dose in trial. 2022 [cited 2023 Mar 17]. Available from: https://musculardystrophynews.com/news/mda-2022-dmd-gene-therapy-pf-06939926-shows-safety-hints-of-efficacy-trial/
- Pfizer to Open First U.S. Sites in phase 3 trial of investigational gene therapy for ambulatory patients with duchenne muscular dystrophy | pfizer [Internet]. [cited 2023 Mar 17]. Available from: https://www.pfizer.com/news/press-release/press-release-detail/pfizer-open-first-us-sites-phase-3-trial-investigational
- Solid Biosciences announces updated corporate strategy to develop SGT-001 and SGT-003 pipeline programs for patients with duchenne muscular dystrophy [Internet]. Solid Biosciences. [cited 2023 May 1]. Available from: https://www.solidbio.com/about/media/press-releases/solid-biosciences-announces-updated-corporate-strategy-to-develop-sgt-001-and-sgt-003-pipeline-programs-for-patients-with-duchenne-muscular-dystrophy
- Huard J, Roy R, Bouchard JP, et al. Human myoblast transplantation between immunohistocompatible donors and recipients produces immune reactions. Transplant Proc. 1992;24:3049–3051.
- Tremblay JP, Malouin F, Roy R, et al. Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with duchenne muscular dystrophy. Cell Transplant. 1993;2(2):99–112. doi: 10.1177/096368979300200203
- Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity in duchenne’s muscular dystrophy. N Engl J Med. 2010;363(15):1429–1437. doi: 10.1056/NEJMoa1000228
- Anthony K, Ala P, Catapano F, et al. T cell responses to dystrophin in a natural history study of duchenne muscular dystrophy. Hum Gene Ther. 2022 [cited 2023 May 5]. Available from: https://www.liebertpub.com/doi/10.1089/hum.2022.166
- Bönnemann CG, Belluscio BA, Braun S, et al. Dystrophin immunity after gene therapy for duchenne’s muscular dystrophy. N Engl J Med. 2023;388(24):2294–2296. doi: 10.1056/NEJMc2212912
- Philippidis A. After third death, audentes’ AT132 remains on clinical hold. Hum Gene Ther. 2020;31:908–910. doi: 10.1089/hum.2020.29133.bfs
- Philippidis A. Fourth boy dies in clinical trial of Astellas’ AT132. Hum Gene Ther. 2021;32:1008–1010. doi: 10.1089/hum.2021.29182.bfs
- Velazquez VM, Meadows AS, Pineda RJ, et al. Effective depletion of pre-existing anti-AAV antibodies requires broad immune targeting. Mol Ther Methods Clin Dev. 2017;4:159–168. doi: 10.1016/j.omtm.2017.01.003
- Chicoine LG, Montgomery CL, Bremer WG, et al. Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery. Mol Ther. 2014;22(2):338–347. doi: 10.1038/mt.2013.244
- Li N, Parkes JE, Spathis R, et al. The effect of immunomodulatory treatments on anti-dystrophin immune response after AAV gene therapy in dystrophin deficient mdx mice. J Neuromuscul Dis. 2021;8:S325–S340. doi: 10.3233/JND-210706
- Tabebordbar M, Lagerborg KA, Stanton A, et al. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021;184(19):4919–4938.e22. doi: 10.1016/j.cell.2021.08.028
- Gao G-P, Alvira MR, Wang L, et al. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci U S A. 2002;99(18):11854–11859. doi: 10.1073/pnas.182412299
- Goedeker NL, Dharia SD, Griffin DA, et al. Evaluation of rAavrh74 gene therapy vector seroprevalence by measurement of total binding antibodies in patients with duchenne muscular dystrophy. Ther Adv Neurol Disord. 2023;16:17562864221149780. doi: 10.1177/17562864221149781
- Piepho AB, Lowe J, Cumby LR, et al. Micro-dystrophin gene therapy demonstrates long-term cardiac efficacy in a severe duchenne muscular dystrophy model. Mol Ther Methods Clin Dev. 2023;28:344–354. doi: 10.1016/j.omtm.2023.02.001
- 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: 10.1016/j.omtm.2022.08.009
- Zygmunt DA, Xu R, Jia Y, et al. rAavrh74.Mck.galgt2 demonstrates safety and widespread muscle glycosylation after intravenous delivery in C57BL/6J mice. Mol Ther Methods Clin Dev. 2019;15:305–319. doi: 10.1016/j.omtm.2019.10.005
- Blake DJ, Tinsley JM, Davies KE. Utrophin: a structural and functional comparison to dystrophin. Brain Pathol. 1996;6(1):37–47. doi: 10.1111/j.1750-3639.1996.tb00781.x
- Pisani C, Strimpakos G, Gabanella F, et al. Utrophin up-regulation by artificial transcription factors induces muscle rescue and impacts the neuromuscular junction in mdx mice. Biochim Biophys Acta. 2018;1864(4):1172–1182. doi: 10.1016/j.bbadis.2018.01.030
- Sengupta K, Mishra MK, Loro E, et al. Genome editing-mediated utrophin upregulation in duchenne muscular dystrophy stem cells. Mol Ther Nucleic Acids. 2020;22:500–509. doi: 10.1016/j.omtn.2020.08.031
- Muntoni F, Tejura B, Spinty S, et al. A phase 1b trial to assess the pharmacokinetics of Ezutromid in pediatric duchenne muscular dystrophy patients on a balanced diet. Clin Pharmacol Drug Dev. 2019;8(7):922–933. doi: 10.1002/cpdd.642
- Muntoni F, Maresh K, Davies K, et al. PhaseOut DMD: a phase 2, proof of concept, clinical study of utrophin modulation with ezutromid. Neuro Disord. 2017;27:S217. doi: 10.1016/j.nmd.2017.06.443
- Loro E, Sengupta K, Bogdanovich S, et al. High-throughput identification of post-transcriptional utrophin up-regulators for duchenne muscle dystrophy (DMD) therapy. Sci Rep. 2020;10(1):2132. doi: 10.1038/s41598-020-58737-6
- Hosoyama T, Dyke JV, Suzuki M. Applications of skeletal muscle progenitor cells for neuromuscular diseases. Am J Stem Cells. 2012;1:253–263.
- Happi Mbakam C, Lamothe G, Tremblay JP. Therapeutic strategies for dystrophin replacement in duchenne muscular dystrophy. Front Med. 2022;9:859930. doi: 10.3389/fmed.2022.859930
- Tsoumpra MK, Fukumoto S, Matsumoto T, et al. Peptide-conjugate antisense based splice-correction for duchenne muscular dystrophy and other neuromuscular diseases. EBioMedicine. 2019;45:630–645. doi: 10.1016/j.ebiom.2019.06.036
- Brogna C, Coratti G, Pane M, et al. Long-term natural history data in duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. Plos One. 2019 [cited 2021 Jun 8];14. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6592545/
- Calabro J Survival in Eteplirsen-treated vs duchenne muscular dystrophy natural history patients: an indirect treatment comparison using real-world data [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 May 30]. Available from: https://www.mdaconference.org/abstract-library/survival-in-eteplirsen-treated-vs-duchenne-muscular-dystrophy-natural-history-patients-an-indirect-treatment-comparison-using-real-world-data/.
- Frank DE, Schnell FJ, Akana C, et al. Increased dystrophin production with golodirsen in patients with duchenne muscular dystrophy. Neurology. 2020;94(21):e2270–e2282. doi: 10.1212/WNL.0000000000009233
- Servais L, Mercuri E, Straub V, et al. Long-term safety and efficacy data of Golodirsen in ambulatory patients with duchenne muscular dystrophy amenable to exon 53 skipping: a first-in-human, multicenter, two-part, open-label, phase 1/2 trial. Nucleic Acid Ther. 2022;32(1):29–39. doi: 10.1089/nat.2021.0043
- Wagner KR, Kuntz NL, Koenig E, et al. Safety, tolerability, and pharmacokinetics of casimersen in patients with duchenne muscular dystrophy amenable to exon 45 skipping: a randomized, double-blind, placebo-controlled, dose-titration trial. Muscle Nerve. 2021;64(3):285–292. doi: 10.1002/mus.27347
- 2023 MDA clinical and Scientific Conference | Sarepta therapeutics, Inc. [cited 2023 May 31]. Available from: https://investorrelations.sarepta.com/events/event-details/2023-mda-clinical-and-scientific-conference
- Sarepta therapeutics announces that FDA has lifted its clinical hold on SRP-5051 for the treatment of duchenne muscular dystrophy | Sarepta therapeutics, Inc. [cited 2023 May 31]. Available from: https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-fda-has-lifted-its-clinical-hold
- PhD EM. SRP-5051 - muscular dystrophy news [Internet]. [cited 2023 May 31]. Available from: https://musculardystrophynews.com/srp-5051/
- Daiichi Sankyo announces the results summary of phase 1/2 clinical trial in japan for DS-5141 - press releases - media - Daiichi Sankyo. [cited 2023 Jul 22]. Available from: https://www.daiichisankyo.com/media/press_release/detail/index_4112.html
- McMillan HJ, Amid A, Gonorazky H, et al. Drisapersen associated with elevated serum factor VIII levels in duchenne muscular dystrophy. Neurology. 2020;94(12):538–540. doi: 10.1212/WNL.0000000000009139
- McDonald CM, Wong B, Flanigan KM, et al. Placebo‐controlled phase 2 trial of Drisapersen for duchenne muscular dystrophy. Ann Clin Transl Neurol. 2018;5(8):913–926. doi: 10.1002/acn3.579
- Goemans NM, Tulinius M, van den Hauwe M, et al. Long-term efficacy, safety, and pharmacokinetics of Drisapersen in duchenne muscular dystrophy: results from an open-label extension study. Plos One. 2016;11(9):e0161955. doi: 10.1371/journal.pone.0161955
- Komaki H, Takeshima Y, Matsumura T, et al. Viltolarsen in japanese duchenne muscular dystrophy patients: a phase 1/2 study. Ann Clin Transl Neurol. 2020;7(12):2393–2408. doi: 10.1002/acn3.51235
- Clemens PR, Rao VK, Connolly AM, et al. Safety, tolerability, and efficacy of Viltolarsen in boys with duchenne muscular dystrophy amenable to exon 53 skipping: a phase 2 randomized clinical trial. JAMA Neurol. 2020;77(8):982. doi: 10.1001/jamaneurol.2020.1264
- Clemens PR, Rao VK, Connolly AM, et al. Long-term functional efficacy and safety of Viltolarsen in patients with duchenne muscular dystrophy. J Neuromuscul Dis. 2022;9(4):493–501. doi: 10.3233/JND-220811
- Wein N, Vetter TA, Vulin A, et al. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022;26:279–293. doi: 10.1016/j.omtm.2022.07.005
- Notice regarding impairment loss for products under development [Internet]. Astellas gene therapies. [cited 2023 Jul 20]. Available from: https://www.astellasgenetherapies.com/press_release/notice-regarding-impairment-loss-for-products-under-development
- Calabro J Expression of apparent full-length dystrophin in skeletal muscle after administration of the scAAV9.U7-ACCA vector: 12 to 36 month follow up [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 Jul 21]. Available from: https://www.mdaconference.org/abstract-library/expression-of-apparent-full-length-dystrophin-in-skeletal-muscle-after-administration-of-the-scaav9-u7-acca-vector-12-to-36-month-follow-up/
- Expression of apparent full-length dystrophin in skeletal muscle in a first-in-human gene therapy trial using the scAAV9.U7-ACCA vector [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 Jul 21]. Available from: https://www.mdaconference.org/abstract-library/expression-of-apparent-full-length-dystrophin-in-skeletal-muscle-in-a-first-in-human-gene-therapy-trial-using-the-scaav9-u7-acca-vector/
- 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(4):395–402. doi: 10.1002/humu.22758
- Lee JJA, Saito T, Duddy W, et al. Direct reprogramming of human DMD fibroblasts into myotubes for in vitro evaluation of antisense-mediated exon skipping and exons 45–55 skipping accompanied by rescue of dystrophin expression. Methods Mol Biol. 2018;1828:141–150.
- Echigoya Y, Lim KRQ, Melo D, et al. Exons 45–55 skipping using mutation-tailored cocktails of antisense morpholinos in the DMD gene. Mol Ther. 2019;27(11):2005–2017. doi: 10.1016/j.ymthe.2019.07.012
- Lee J, Echigoya Y, Duddy W, et al. Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts. Plos One. 2018;13(5):e0197084. doi: 10.1371/journal.pone.0197084
- Sarepta therapeutics reports positive clinical results from phase 2 MOMENTUM study of SRP-5051 in patients with duchenne muscular dystrophy amenable to skipping exon 51 | Sarepta therapeutics, Inc. [Internet]. [cited 2021 Aug 26]. Available from: https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-reports-positive-clinical-results-phase-2
- Kaufman RJ. Correction of genetic disease by making sense from nonsense. J Clin Invest. 1999;104(4):367–368. doi: 10.1172/JCI8055
- Wagner RN, Wießner M, Friedrich A, et al. Emerging personalized opportunities for enhancing translational readthrough in rare genetic diseases and beyond. Int J Mol Sci. 2023;24(7):6101. doi: 10.3390/ijms24076101
- McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489–1498. doi: 10.1016/S0140-6736(17)31611-2
- Dystrophy PPM PTC shares results of study 045 of TranslarnaTM (ataluren) in patients with nonsense mutation duchenne [Internet]. Parent Project Muscular Dystrophy. 2021 [cited 2023 Jun 3]. Available from: https://www.parentprojectmd.org/ptc-shares-results-of-study-045-of-translarna-ataluren-in-patients-with-nonsense-mutation-duchenne/
- Mercuri E, Muntoni F, Osorio AN, et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE registry and CINRG DMD natural history study. J Comp Eff Res. 2020;9(5):341–360. doi: 10.2217/cer-2019-0171
- McDonald CM, Wei L-J, Flanigan KM, et al. Evaluating longitudinal therapy effects via the North Star ambulatory Assessment. Muscle Nerve. 2021;64(5):614–619. doi: 10.1002/mus.27396
- Campbell C, Barohn RJ, Bertini E, et al. Meta-analyses of ataluren randomized controlled trials in nonsense mutation duchenne muscular dystrophy. J Comp Eff Res. 2020;9(14):973–984. doi: 10.2217/cer-2020-0095
- Michael E, Sofou K, Wahlgren L, et al. Long term treatment with ataluren—the swedish experience. BMC Musculoskelet Disord. 2021;22:837. doi: 10.1186/s12891-021-04700-z
- Calabro J Ataluren preserves muscle function in nmDMD patients: a pooled analysis of results from three randomized, double-blind, placebo-controlled trials [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 Jun 3]. Available from: https://www.mdaconference.org/abstract-library/ataluren-preserves-muscle-function-in-nmdmd-patients-a-pooled-analysis-of-results-from-three-randomized-double-blind-placebo-controlled-trials/.
- Calabro J Ataluren preserves upper limb function in nmDMD patients from study 041, a phase 3 placebo-controlled trial, and the STRIDE registry [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 Jun 3]. Available from: https://www.mdaconference.org/abstract-library/ataluren-preserves-upper-limb-function-in-nmdmd-patients-from-study-041-a-phase-3-placebo-controlled-trial-and-the-stride-registry/.
- Calabro J Safety and efficacy of ataluren in nmDMD patients from study 041, a phase 3, randomized, double-blind, placebo-controlled trial [Internet]. MDA Clinical & Scientific Conference 2023. [cited 2023 Jun 3]. Available from: https://www.mdaconference.org/abstract-library/safety-and-efficacy-of-ataluren-in-nmdmd-patients-from-study-041-a-phase-3-randomized-double-blind-placebo-controlled-trial/.
- Jinek M, Chylinski K, Fonfara I, et al. A programmable dual-RNA–Guided DNA endonuclease in adaptive bacterial immunity. Science. 2012;337(6096):816–821. doi: 10.1126/science.1225829
- Komor AC, Kim YB, Packer MS, et al. Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature. 2016;533(7603):420–424. doi: 10.1038/nature17946
- Anzalone AV, Randolph PB, Davis JR, et al. Search-and-replace genome editing without double-strand breaks or donor DNA. Nature. 2019;576(7785):149–157. doi: 10.1038/s41586-019-1711-4
- Chemello F, Olson EN, Bassel-Duby R. CRISPR-Editing therapy for duchenne muscular dystrophy. Hum Gene Ther. 2023;34(9–10):379–387. doi: 10.1089/hum.2023.053
- Fatehi S, Marks RM, Rok MJ, et al. Advances in CRISPR/Cas9 genome editing for the treatment of muscular dystrophies. Hum Gene Ther. 2023;34(9–10):388–403. doi: 10.1089/hum.2023.059
- Eslahi A, Alizadeh F, Avan A, et al. New advancements in CRISPR based gene therapy of duchenne muscular dystrophy. Gene. 2023;867:147358. doi: 10.1016/j.gene.2023.147358
- Philippidis A Gene therapy briefs: cure rare disease cEO’s brother died in clinical trial [Internet]. GEN - Genetic Engineering And Biotechnology News. 2022 [cited 2023 Jun 4]. Available from: https://www.genengnews.com/gen-edge/gene-therapy-briefs-cure-rare-disease-ceos-brother-died-in-clinical-trial/.
- Lek A, Wong B, Keeler A, et al. Unexpected death of a duchenne muscular dystrophy patient in an N-of-1 trial of rAAV9-delivered CRISPR-transactivator. medRxiv; 2023 [cited 2023 Jul 21]. Available from: https://www.medrxiv.org/content/10.1101/2023.05.16.23289881v2.
- Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia. N Engl J Med. 2021;384(3):252–260. doi: 10.1056/NEJMoa2031054
- Vertex and CRISPR therapeutics to present new clinical data on …. CRISPR. [cited 2022 Nov 24]. Available from: https://crisprtx.com/about-us/press-releases-and-presentations/vertex-and-crispr-therapeutics-to-present-new-clinical-data-on-investigational-crispr-cas9-gene-editing-therapy-ctx001-for-severe-hemoglobinopathies-at-the-annual-european-hematology-association-virtual-congress.
- CRISPR therapeutics reports positive results from its phase 1 CARBON …. CRISPR. [cited 2022 Nov 28]. Available from: https://crisprtx.com/about-us/press-releases-and-presentations/crispr-therapeutics-reports-positive-results-from-its-phase-1-carbon-trial-of-ctx110-in-relapsed-or-refractory-cd19-b-cell-malignancies.
- Stadtmauer EA, Fraietta JA, Davis MM, et al. CRISPR-engineered T cells in patients with refractory cancer. Science. 2020;367(6481):eaba7365. doi: 10.1126/science.aba7365
- First trial of CRISPR-Edited T cells in lung cancer - ClinicalKey [Internet]. [cited 2022 Nov 28]. Available from: https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1471491420301490?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1471491420301490%3Fshowall%3Dtrue&referrer=https:%2F%2Finnovativegenomics.org%2Fnews%2Fcrispr-clinical-trials-2022%2F.
- Philippidis A. First patient dosed with VCTX210, a cell therapy for type 1 diabetes. Genet Eng Biotechnol News. 2022;42(5):10–11. doi: 10.1089/gen.42.05.02
- Xu L, Wang J, Liu Y, et al. CRISPR-Edited stem cells in a patient with HIV and acute lymphocytic leukemia. N Engl J Med. 2019;381(13):1240–1247. doi: 10.1056/NEJMoa1817426
- Lu Y, Xue J, Deng T, et al. Safety and feasibility of CRISPR-edited T cells in patients with refractory non-small-cell lung cancer. Nat Med. 2020;26(5):732–740. doi: 10.1038/s41591-020-0840-5