Gene Therapy in Retinal Dystrophies.
animal models for retinal dystrophy
editing
hereditary retinal disease
human iPSC-derived retina and retinal pigment epithelium
optogenetics and splice modulation therapy
pre- and clinical gene therapy
retinal gene augmentation
retinal imaging
retinal pathology
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
14 Nov 2019
14 Nov 2019
Historique:
received:
07
10
2019
revised:
13
11
2019
accepted:
13
11
2019
entrez:
20
11
2019
pubmed:
20
11
2019
medline:
9
4
2020
Statut:
epublish
Résumé
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous degenerative disorders. To date, mutations have been associated with IRDs in over 270 disease genes, but molecular diagnosis still remains elusive in about a third of cases. The methodologic developments in genome sequencing techniques that we have witnessed in this last decade have represented a turning point not only in diagnosis and prognosis but, above all, in the identification of new therapeutic perspectives. The discovery of new disease genes and pathogenetic mechanisms underlying IRDs has laid the groundwork for gene therapy approaches. Several clinical trials are ongoing, and the recent approval of Luxturna, the first gene therapy product for Leber congenital amaurosis, marks the beginning of a new era. Due to its anatomical and functional characteristics, the retina is the organ of choice for gene therapy, although there are quite a few difficulties in the translational approaches from preclinical models to humans. In the first part of this review, an overview of the current knowledge on methodological issues and future perspectives of gene therapy applied to IRDs is discussed; in the second part, the state of the art of clinical trials on the gene therapy approach in IRDs is illustrated.
Identifiants
pubmed: 31739639
pii: ijms20225722
doi: 10.3390/ijms20225722
pmc: PMC6888000
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
Am J Hum Genet. 2007 Jul;81(1):127-35
pubmed: 17564969
Prog Retin Eye Res. 2017 Jul;59:53-96
pubmed: 28363849
Virology. 2004 Dec 20;330(2):375-83
pubmed: 15567432
Mol Ther. 2005 Aug;12(2):369-73
pubmed: 16043105
Mol Ther Methods Clin Dev. 2016 Mar 16;5:16011
pubmed: 27626041
Nat Med. 2019 Feb;25(2):229-233
pubmed: 30664785
Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53
pubmed: 22180149
Genes Dev. 2001 Jan 15;15(2):188-200
pubmed: 11157775
Mol Ther. 2013 Sep;21(9):1718-26
pubmed: 23732986
Mol Ther. 2002 Oct;6(4):490-4
pubmed: 12377190
Biotechnology. 1992;20:363-90
pubmed: 1318139
Nanoscale Res Lett. 2018 Oct 25;13(1):339
pubmed: 30361809
Mol Ther. 2016 Aug;24(8):1388-94
pubmed: 27203441
Hum Mol Genet. 2009 Jun 15;18(12):2099-114
pubmed: 19299492
Curr Drug Deliv. 2004 Apr;1(2):165-93
pubmed: 16305382
Am J Ophthalmol. 2018 Dec;196:xxv-xxix
pubmed: 30194931
Genes (Basel). 2019 Apr 09;10(4):
pubmed: 30970639
Prog Retin Eye Res. 2012 May;31(3):195-212
pubmed: 22245536
Transl Res. 2017 Oct;188:40-57.e4
pubmed: 28754419
Curr Opin Ophthalmol. 2015 Jul;26(5):333-40
pubmed: 26196097
J Biomed Sci. 2007 May;14(3):313-22
pubmed: 17373573
N Engl J Med. 2015 May 14;372(20):1887-97
pubmed: 25938638
Gene Ther. 2006 Aug;13(16):1191-7
pubmed: 16838031
Biochim Biophys Acta. 2002 Jan 2;1558(1):1-13
pubmed: 11750259
Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3352-6
pubmed: 8622940
Mol Ther. 2003 Mar;7(3):419-25
pubmed: 12668138
Nat Biotechnol. 2003 Sep;21(9):1040-6
pubmed: 12897791
Mol Ther. 2008 Jun;16(6):1010-7
pubmed: 18388913
Ophthalmic Genet. 2009 Jun;30(2):57-62
pubmed: 19373675
J Virol. 1999 Nov;73(11):9303-13
pubmed: 10516039
Hum Gene Ther. 2008 Oct;19(10):979-90
pubmed: 18774912
Exp Eye Res. 1992 Feb;54(2):291-6
pubmed: 1559557
Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6033-6039
pubmed: 27820636
Nat Genet. 1998 Dec;20(4):344-51
pubmed: 9843205
Surv Ophthalmol. 2002 Sep-Oct;47(5):449-69
pubmed: 12431694
Cell. 2013 May 9;153(4):910-8
pubmed: 23643243
Nat Genet. 2000 Jul;25(3):306-10
pubmed: 10888879
Invest Ophthalmol Vis Sci. 1998 Apr;39(5):681-9
pubmed: 9538873
Nat Rev Genet. 2005 Apr;6(4):299-310
pubmed: 15761468
Proc Natl Acad Sci U S A. 1998 Sep 15;95(19):11377-82
pubmed: 9736744
Adv Exp Med Biol. 2014;801:719-24
pubmed: 24664763
J Virol. 2004 May;78(9):4421-32
pubmed: 15078923
Biochem Soc Trans. 2007 Feb;35(Pt 1):47-9
pubmed: 17233598
J Chromatogr B Analyt Technol Biomed Life Sci. 2006 May 1;835(1-2):62-70
pubmed: 16574504
Hum Mol Genet. 2016 Jun 15;25(12):2552-2563
pubmed: 27106101
J Virol. 2003 Jan;77(1):423-32
pubmed: 12477847
Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11854-9
pubmed: 12192090
Nat Med. 1998 Aug;4(8):967-71
pubmed: 9701253
J Acquir Immune Defic Syndr. 1991;4(6):568-76
pubmed: 1902514
Nature. 2001 May 24;411(6836):494-8
pubmed: 11373684
Micron. 2002;33(1):1-6
pubmed: 11473808
Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740
pubmed: 30114557
Circulation. 2004 Sep 14;110(11):1484-91
pubmed: 15326058
Adv Exp Med Biol. 2016;854:487-93
pubmed: 26427450
Mol Ther. 2008 Mar;16(3):458-65
pubmed: 18209734
J Biol Chem. 2004 Nov 12;279(46):48189-96
pubmed: 15337746
Invest Ophthalmol Vis Sci. 1994 Apr;35(5):2543-9
pubmed: 8163343
Hum Gene Ther. 2016 May;27(5):376-89
pubmed: 27036983
J Virol. 1996 May;70(5):3227-34
pubmed: 8627803
Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):16-22
pubmed: 14603031
Hum Mol Genet. 2016 Aug 15;25(16):3416-3431
pubmed: 27329764
Curr Gene Ther. 2006 Apr;6(2):243-73
pubmed: 16611045
Adv Exp Med Biol. 2012;723:215-23
pubmed: 22183336
Gene Ther. 2008 Oct;15(19):1311-20
pubmed: 18463687
Expert Opin Biol Ther. 2018 Jan;18(1):37-49
pubmed: 29057663
Mol Ther. 2002 Dec;6(6):813-23
pubmed: 12498777
Invest Ophthalmol Vis Sci. 2000 Sep;41(10):2863-9
pubmed: 10967039
J Gene Med. 2015 Oct-Dec;17(10-12):229-43
pubmed: 26369397
J Virol. 2004 Mar;78(6):2906-20
pubmed: 14990709
J Virol. 2006 May;80(10):5082-5
pubmed: 16641301
PLoS Med. 2005 Nov;2(11):e333
pubmed: 16250670
J Virol. 1996 Jan;70(1):520-32
pubmed: 8523565
Mol Ther. 2018 Sep 5;26(9):2282-2294
pubmed: 30196853
Hum Gene Ther. 1998 Jul 20;9(11):1587-98
pubmed: 9694157
Curr Eye Res. 2005 Mar;30(3):213-9
pubmed: 15804747
Mol Ther. 2005 Jun;11(6):856-65
pubmed: 15922956
Ophthalmology. 2013 Jun;120(6):1283-91
pubmed: 23474247
Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3039-45
pubmed: 16123399
Eur J Biochem. 1997 Apr 1;245(1):1-16
pubmed: 9128718
Cell Biochem Biophys. 2015 Jul;72(3):771-5
pubmed: 25663504
Invest Ophthalmol Vis Sci. 2015 Feb 09;56(2):918-31
pubmed: 25667399
Gene Ther. 2006 Feb;13(4):339-47
pubmed: 16307001
Hum Gene Ther. 2012 Apr;23(4):356-66
pubmed: 22289036
Orphanet J Rare Dis. 2006 Oct 11;1:40
pubmed: 17032466
Exp Eye Res. 2007 Jan;84(1):44-52
pubmed: 17083931
Prog Retin Eye Res. 2015 Sep;48:137-59
pubmed: 25936606
Hum Mol Genet. 2000 Mar 1;9(4):645-51
pubmed: 10699188
Front Immunol. 2012 Sep 21;3:296
pubmed: 23049533
Sci Adv. 2019 Apr 17;5(4):eaav3335
pubmed: 31001583
Invest Ophthalmol Vis Sci. 2011 Jun 01;52(6):3723-9
pubmed: 21357407
J Virol. 2004 Jun;78(12):6381-8
pubmed: 15163731
Prog Retin Eye Res. 2018 Sep;66:49-84
pubmed: 29609042
PLoS One. 2014 Apr 04;9(4):e94272
pubmed: 24705452
Invest Ophthalmol Vis Sci. 2012 Apr 06;53(4):1895-904
pubmed: 22408006
N Engl J Med. 2008 May 22;358(21):2240-8
pubmed: 18441370
Mol Ther. 2003 Aug;8(2):188-95
pubmed: 12907141
Genes (Basel). 2017 Jan 27;8(2):
pubmed: 28134823
Nat Genet. 1992 May;1(2):109-13
pubmed: 1302003
Hum Gene Ther. 2005 Apr;16(4):408-16
pubmed: 15871672
Curr Opin Mol Ther. 2001 Oct;3(5):454-63
pubmed: 11699889
J Virol. 2004 Mar;78(6):3110-22
pubmed: 14990730
Cell Stem Cell. 2013 Dec 5;13(6):659-62
pubmed: 24315440
Cell. 2013 Sep 12;154(6):1370-9
pubmed: 23992847
Adv Exp Med Biol. 2018;1085:245-259
pubmed: 30578524
Adv Exp Med Biol. 2006;572:255-66
pubmed: 17249582
Genes (Basel). 2019 Apr 09;10(4):
pubmed: 30970664
Invest Ophthalmol Vis Sci. 2009 Jun;50(6):3009-16
pubmed: 19117920
Annu Rev Biochem. 2005;74:711-38
pubmed: 15952901
Mol Ther. 2006 Mar;13(3):565-72
pubmed: 16223604
Yale J Biol Med. 2017 Dec 19;90(4):543-551
pubmed: 29259520
Front Neurosci. 2017 Apr 03;11:174
pubmed: 28420956
Mol Ther Nucleic Acids. 2015 Sep 01;4:e250
pubmed: 26325627
J Biotechnol. 2018 Oct 20;284:1-5
pubmed: 30053498
Eye (Lond). 2016 Dec;30(12):1542-1548
pubmed: 27564722
Mol Vis. 2002 Apr 08;8:102-13
pubmed: 11961505
EMBO J. 2002 Mar 1;21(5):857-64
pubmed: 11867514
Nat Med. 1996 Jun;2(6):714-6
pubmed: 8640568
Gene Ther. 2002 Mar;9(5):320-6
pubmed: 11938451
Mol Ther. 2005 Sep;12(3):402-12
pubmed: 15975850
Gene Ther. 2004 Oct;11(20):1540-8
pubmed: 15269711
Mol Ther. 2006 Nov;14(5):692-9
pubmed: 16979943
Nat Biotechnol. 2006 Feb;24(2):198-204
pubmed: 16429148
Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3553-61
pubmed: 16186333
Nat Biotechnol. 2014 Jun;32(6):551-3
pubmed: 24681508
Ophthalmol Clin North Am. 2002 Sep;15(3):405-10
pubmed: 12434490
Gene Ther. 2005 Apr;12(8):694-701
pubmed: 15660111
FEBS Lett. 1999 Jun 4;452(1-2):26-30
pubmed: 10376672
Hum Mol Genet. 2017 Aug 1;26(R1):R45-R50
pubmed: 28854576
Nat Med. 2006 Mar;12(3):348-53
pubmed: 16491086
J Virol. 2004 May;78(9):4628-37
pubmed: 15078945
Mol Med. 2000 Mar;6(3):179-95
pubmed: 10965494
Genes Dev. 2001 Oct 15;15(20):2654-9
pubmed: 11641272
Vision Res. 2008 Feb;48(3):353-9
pubmed: 17923143
Br J Ophthalmol. 2017 Jan;101(1):25-30
pubmed: 27491360
Hum Gene Ther. 2004 Feb;15(2):145-56
pubmed: 14975187
N Engl J Med. 2008 May 22;358(21):2231-9
pubmed: 18441371
Mol Ther. 2016 Mar;24(3):430-46
pubmed: 26755333
J Control Release. 2004 May 31;97(1):143-56
pubmed: 15147812
Hum Mutat. 2006 Mar;27(3):260-8
pubmed: 16419083
Genome Res. 2013 Mar;23(3):539-46
pubmed: 23152450
Ophthalmology. 2016 Oct;123(10):2158-65
pubmed: 27506488
Cell. 2017 Apr 20;169(3):559
pubmed: 28431253
Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12584-9
pubmed: 11592982
Hum Gene Ther. 2004 Apr;15(4):361-72
pubmed: 15053861
Gene Ther. 2005 Aug;12(15):1223-8
pubmed: 15877050
Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):2132-7
pubmed: 22308428
Mol Ther. 2006 Sep;14(3):316-27
pubmed: 16824801
Eur J Ophthalmol. 2011;21 Suppl 6:S3-9
pubmed: 23264323
Biochem J. 2002 Aug 15;366(Pt 1):333-41
pubmed: 12030844
Hum Gene Ther. 2003 Jan 20;14(2):103-15
pubmed: 12614562
Mol Vis. 2010 Mar 09;16:369-77
pubmed: 20300561
Mol Ther. 2005 Sep;12(3):555-61
pubmed: 15967729
Invest Ophthalmol Vis Sci. 2011 Jan 05;52(1):7-15
pubmed: 21169527
Lancet. 2014 Mar 29;383(9923):1129-37
pubmed: 24439297
Genet Vaccines Ther. 2004 Apr 27;2:3
pubmed: 15109394
Retina. 2004 Aug;24(4):660
pubmed: 15473063
BMC Ophthalmol. 2010 Oct 01;10:25
pubmed: 20920307
Nat Genet. 1997 Mar;15(3):236-46
pubmed: 9054934
Nat Med. 2019 Feb;25(2):225-228
pubmed: 30559420
Lancet. 2015 Feb 7;385(9967):509-16
pubmed: 25458728
Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1994-2000
pubmed: 12037010
Science. 2016 Jan 22;351(6271):403-7
pubmed: 26721684
Ann Anat. 2019 Jan;221:1-16
pubmed: 30240907
Mol Vis. 2005 Aug 29;11:648-56
pubmed: 16145542
N Engl J Med. 2016 May 19;374(20):1996-8
pubmed: 27120491
Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6362-75
pubmed: 26436889
PLoS One. 2013 May 07;8(5):e61396
pubmed: 23667438
Ophthalmic Res. 2019;62(3):123-133
pubmed: 31382265
Mol Vis. 2005 Feb 28;11:152-62
pubmed: 15765048
Hum Mol Genet. 2000 Jul 22;9(12):1873-9
pubmed: 10915776
Cell. 2013 Sep 12;154(6):1380-9
pubmed: 23992846
Curr Opin Mol Ther. 2008 Oct;10(5):456-63
pubmed: 18830921
Invest Ophthalmol Vis Sci. 2003 Jan;44(1):310-5
pubmed: 12506090
J Clin Invest. 2008 May;118(5):1955-64
pubmed: 18414684
Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8909-14
pubmed: 12072560
Expert Rev Mol Diagn. 2004 Jul;4(4):478-84
pubmed: 15225095
Ophthalmic Genet. 2003 Jun;24(2):75-80
pubmed: 12789571
Mol Ther. 2005 Oct;12(4):644-51
pubmed: 16027044
Pharm Res. 2003 Apr;20(4):576-83
pubmed: 12739764
J Gene Med. 2006 Feb;8(2):155-62
pubmed: 16285001
Invest Ophthalmol Vis Sci. 2014 Apr 28;55(4):2714-30
pubmed: 24777644
Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3279-85
pubmed: 15326152
Nature. 2016 Dec 1;540(7631):144-149
pubmed: 27851729