Dystrophin Gene Replacement and Gene Repair Therapy for Duchenne Muscular Dystrophy in 2016: An Interview

Human Gene Therapy Clinical Development

Volumn 27, Issue 1, 2016, Pages 9-18

  Duan, Dongsheng ^a  

^a University of Missouri   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALIPOGENE TIPARVOVEC; DYSTROPHIN; ONCOLYTIC HERPES VIRUS; SPECTRIN; TALIMOGENE LAHERPAREPVEC;

ARTICLE; BECKER MUSCULAR DYSTROPHY; BREATHING MUSCLE; CRISPR CAS SYSTEM; DIAPHRAGM; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; EYE DISEASE; HEMATOLOGIC DISEASE; MUSCLE REGENERATION; NONHUMAN; PRIORITY JOURNAL; VIRAL GENE THERAPY; ANIMAL; DOG; GENE THERAPY; GENETICS; HUMAN; INTERVIEW; METABOLISM; MOUSE; MUSCULAR DYSTROPHY, DUCHENNE;

ANIMALS; DOGS; DYSTROPHIN; GENETIC THERAPY; HUMANS; MICE; MUSCULAR DYSTROPHY, DUCHENNE;

EID: 84979482222     PISSN: 23248637     EISSN: 23248645     Source Type: Journal    
DOI: 10.1089/humc.2016.001     Document Type: Article

References (62)

1. Berns KI, Byrne BJ, Flotte TR, et al. Adenoassociated virus type 2 and hepatocellular carcinoma? Hum Gene Ther 2015; 26: 779-781.
2. Wilson JM. Adverse events in gene transfer trials and an agenda for the new year. Hum Gene Ther 2008; 19: 1-2.
3. Board of the European Society of Gene and Cell Therapy. Case of leukaemia associated with X-linked severe combined immunodeficiency gene therapy trial in London. Hum Gene Ther 2008; 19: 3-4.
4. Naldini L. Gene therapy returns to centre stage. Nature 2015; 526: 351-360.
5. Ledford H. Success against blindness encourages gene therapy researchers. Nature 2015; 526: 487-488.
6. Brimble MA, Reiss UM, Nathwani AC, Davidoff AM. New and improved AAVenues: Current status of hemophilia B gene therapy. Expert Opin Biol Ther 2016; 16: 79-92.
7. High KA, Anguela XM. Adeno-associated viral vectors for the treatment of hemophilia. Hum Mol Genet 2015. [Epub ahead of print]
8. Wilson JM. Gendicine: The first commercial gene therapy product. Hum Gene Ther 2005; 16: 1014-1015.
9. Ma G, Shimada H, Hiroshima K, et al. Gene medicine for cancer treatment: Commercially available medicine and accumulated clinical data in China. Drug Des Dev Ther 2009; 2: 115-122.
10. Gordon EM, Hall FL. Rexin-G, a targeted genetic medicine for cancer. Expert Opin Biol Ther 2010; 10: 819-832.
11. Willyard C. Limb-saving medicines sought to prevent amputations. Nat Med 2012; 18: 328.
12. Deev RV, Bozo IY, Mzhavanadze ND, et al. pCMVvegf165 intramuscular gene transfer is an effective method of treatment for patients with chronic lower limb ischemia. J Cardiovasc Pharmacol Ther 2015; 20: 473-482.
13. Bryant LM, Christopher DM, Giles AR, et al. Lessons learned from the clinical development and market authorization of Glybera. Hum Gene Ther Clin Dev 2013; 24: 55-64.
14. Melchiorri D, Pani L, Gasparini P, et al. Regulatory evaluation of Glybera in Europe-two committees, one mission. Nat Rev Drug Discov 2013; 12: 719.
15. FDA. FDA approves first-of-its-kind product for the treatment of melanoma. FDA News Release October 27, 2015. www.fda.gov/NewsEvents/News room/PressAnnouncements/ucm469571.htm
16. Greig SL. Talimogene laherparepvec: First global approval. Drugs 2016; 76: 147-154.
17. Kunkel LM. 2004 William Allan award address. Cloning of the DMD gene. Am J Hum Genet 2005; 76: 205-214.
18. Bladen CL, Salgado D, Monges S, et al. The TREAT-NMD DMD global database: Analysis of more than 7000 Duchenne muscular dystrophy mutations. Hum Mutat 2015; 36: 395-402.
19. England SB, Nicholson LV, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990; 343: 180-182.
20. Wilson JM. Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency. Mol Genet Metab 2009; 96: 151-157.
21. Duan D. Myodys, a full-length dystrophin plasmid vector for Duchenne and Becker muscular dystrophy gene therapy. Curr Opin Mol Ther 2008; 10: 86-94.
22. 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: 1065-1076.
23. Stedman H, Wilson JM, Finke R, et al. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: Alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. Hum Gene Ther 2000; 11: 777-790.
24. Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, et al. Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol 2009; 66: 290-297.
25. Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010; 363: 1429-1437.
26. Manno CS, Arruda VR, Pierce GF, et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 2006; 12: 342-347.
27. Spitali P, Aartsma-Rus A. Splice modulating therapies for human disease. Cell 2012; 148: 1085-1088.
28. van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-2686.
29. http://investorrelations.sarepta.com/phoenix.zhtml? c=64231&p=irol-newsArticle&ID=2136367. Accessed on March 12, 2016.
30. Goyenvalle A, Griffith G, Babbs A, et al. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nat Med 2015; 21: 270-275.
31. Nance ME, Duan D. Perspective on adenoassociated virus (AAV) capsid modification for Duchenne muscular dystrophy gene therapy. Hum Gene Ther 2015; 26: 786-800.
32. Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517.
33. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53: 219-226.
34. Hoffman EP, Brown RH Jr., Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
35. Lostal W, Kodippili K, Yue Y, Duan D. Fulllength dystrophin reconstitution with adenoassociated viral vectors. Hum Gene Ther 2014; 25: 552-562.
36. DelloRusso C, Scott JM, Hartigan-O'Connor D, et al. Functional correction of adult mdx mouse muscle using gutted adenoviral vectors expressing full-length dystrophin. Proc Natl Acad Sci U S A 2002; 99: 12979-12984.
37. Scott J, Li S, Harper S, et al. Viral vectors for gene transfer of micro-, mini-, or full-length dystrophin. Neuromuscul Disord 2002; 12 Suppl: S23.
38. Winnard AV, Klein CJ, Coovert DD, et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet 1993; 2: 737-744.
39. Matsumura K, Burghes AH, Mora M, et al. Immunohistochemical analysis of dystrophinassociated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin. J Clin Invest 1994; 93: 99-105.
40. Mirabella M, Galluzzi G, Manfredi G, et al. Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology 1998; 51: 592-595.
41. Nicholson LV, Johnson MA, Bushby KM, et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3 Differential diagnosis and prognosis. J Med Genet 1993; 30: 745-751.
42. Chamberlain JS. Gene therapy of muscular dystrophy. Hum Mol Genet 2002; 11: 2355-2362.
43. Duan D. Duchenne muscular dystrophy gene therapy in the canine model. Hum Gene Ther Clin Dev 2015; 26: 57-69.
44. Duan D. From the smallest virus to the biggest gene: Marching towards gene therapy for Duchenne muscular dystrophy. Discov Med 2006; 6: 103-108.
45. Ousterout DG, Kabadi AM, Thakore PI, et al. Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. Nat Commun 2015; 6: 6244.
46. Wojtal D, Kemaladewi DU, Malam Z, et al. Spell checking nature: Versatility of CRISPR/Cas9 for developing treatments for inherited disorders. Am J Hum Genet 2016; 98: 1-12.
47. Nelson CE, Hakim CH, Ousterout DG, et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Science 2016; 351: 493-497.
48. Tabebordbar M, Zhu K, Cheng JK, et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. Science 2016; 351: 407-411.
49. Long C, Amoasii L, Mireault AA, et al. Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy. Science 2016; 351: 400-403.
50. Gregorevic P, Blankinship MJ, Allen JM, et al. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med 2004; 10: 828-834.
51. Wang Z, Zhu T, Qiao C, et al. Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol 2005; 23: 321-328.
52. Yue Y, Ghosh A, Long C, et al. A single intravenous injection of adeno-associated virus serotype- 9 leads to whole body skeletal muscle transduction in dogs. Mol Ther 2008; 16: 1944-1952.
53. Pan X, Yue Y, Zhang K, et al. Long-term robust myocardial transduction of the dog heart from a peripheral vein by adeno-associated virus serotype-8. Hum Gene Ther 2013; 24: 584-594.
54. Hakim CH, Yue Y, Shin JH, et al. Systemic gene transfer reveals distinctivemuscle transduction profile of tyrosine mutant AAV-1, -6, and -9 in neonatal dogs. Mol Ther Methods Clin Dev 2014; 1: 14002.
55. Kornegay JN, Li J, Bogan JR, et al. Widespread muscle expression of an AAV9 human minidystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs. Mol Ther 2010; 18: 1501-1508.
56. Yue Y, Pan X, Hakim CH, et al. Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus. Hum Mol Genet 2015; 24: 5880-5890.
57. Gregorevic P, Blankinship MJ, Allen JM et al. Systemic microdystrophin gene delivery improves skeletal muscle structure and function in old dystrophic mdx mice. Mol Ther 2008; 16: 657-664.
58. Bostick B, Shin J-H, Yue Y et al. AAV-microdystrophin therapy improves cardiac performance in aged female mdx mice. Mol Ther 2011; 19: 1826-1832.
59. Bostick B, Shin JH, Yue Y et al. AAV micro-dystrophin gene therapy alleviates stress-induced cardiac death but not myocardial fibrosis in >21- m-old mdx mice, an end-stage model of Duchenne muscular dystrophy cardiomyopathy. J Mol Cell Cardiol 2012; 53: 217-222.
60. Burr AR, Molkentin JD. Genetic evidence in the mouse solidifies the calcium hypothesis of myofiber death in muscular dystrophy. Cell Death Differ 2015; 22: 1402-1412.
61. van der Loo JC, Wright JF. Progress and challenges in viral vector manufacturing. Hum Mol Genet 2015. [Epub ahead of print]
62. Kotin RM. Large-scale recombinant adenoassociated virus production. Hum Mol Genet 2011; 20: R2-R6.