Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
adeno-associated virus
gene therapy
messenger RNA
ornithine transcarbamylase deficiency
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
08 Aug 2023
08 Aug 2023
Historique:
received:
06
07
2023
revised:
06
08
2023
accepted:
07
08
2023
medline:
26
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae. To date, liver transplantation is the only curative choice but is not widely available due to donor shortage, the need for life-long immunosuppression and technical challenges. A field of research that has shown a great deal of promise recently is gene therapy, and OTCD has been an essential candidate for different gene therapy modalities, including AAV gene addition, mRNA therapy and genome editing. This review will first summarise the main steps towards clinical translation, highlighting the benefits and challenges of each gene therapy approach, then focus on current clinical trials and finally outline future directions for the development of gene therapy for OTCD.
Identifiants
pubmed: 37626723
pii: biomedicines11082227
doi: 10.3390/biomedicines11082227
pmc: PMC10452060
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : Medical Research Council (MRC)
ID : MR/S019111/1
Organisme : National Institute of Health Research Senior Investigator Award
ID : NIHR202370
Références
Nat Genet. 2015 Oct;47(10):1187-93
pubmed: 26301494
J Pharm Biomed Anal. 2009 Jul 12;49(5):1292-5
pubmed: 19359120
Mol Ther. 2011 May;19(5):854-9
pubmed: 21386824
Mol Ther. 2021 May 5;29(5):1903-1917
pubmed: 33484963
Mol Genet Metab. 2004 Apr;81 Suppl 1:S74-8
pubmed: 15050978
Eur J Pediatr. 2001 May;160(5):283-7
pubmed: 11388595
Pediatr Transplant. 2010 Mar;14(2):268-75
pubmed: 19671092
Science. 1984 Nov 9;226(4675):698-700
pubmed: 6494904
Mol Ther Methods Clin Dev. 2022 Oct 10;27:352-367
pubmed: 36381301
Mol Ther Methods Clin Dev. 2017 Dec 01;8:87-104
pubmed: 29326962
Mol Genet Metab. 2010;100 Suppl 1:S84-7
pubmed: 20223690
World J Gastroenterol. 2015 Apr 7;21(13):4063-8
pubmed: 25852294
JHEP Rep. 2019 Dec 27;2(1):100065
pubmed: 32039406
Nature. 2015 Jan 15;517(7534):360-4
pubmed: 25363772
Life (Basel). 2022 Oct 27;12(11):
pubmed: 36362876
Mol Ther Methods Clin Dev. 2020 Nov 17;20:169-180
pubmed: 33473356
Orphanet J Rare Dis. 2020 Dec 3;15(1):340
pubmed: 33272297
Sci Adv. 2020 Feb 12;6(7):eaax5701
pubmed: 32095520
Front Oncol. 2020 Aug 07;10:1387
pubmed: 32850447
Mol Ther. 2018 Mar 7;26(3):801-813
pubmed: 29433939
J Mother Child. 2020 Nov 10;24(2):53-64
pubmed: 33554501
J Gene Med. 2008 Aug;10(8):890-6
pubmed: 18563850
Nat Biotechnol. 2021 Jan;39(1):47-55
pubmed: 33199875
J Genet Genomics. 2015 May 20;42(5):181-94
pubmed: 26059767
Mol Ther. 2007 Apr;15(4):732-40
pubmed: 17285138
Gene Ther. 2013 Dec;20(12):1184-7
pubmed: 24108150
J Pediatr. 2021 Apr;231:265-268
pubmed: 33259859
J Gen Virol. 2009 Jan;90(Pt 1):1-20
pubmed: 19088268
Cell Rep. 2017 Dec 19;21(12):3548-3558
pubmed: 29262333
Clin Genet. 1998 Oct;54(4):349-53
pubmed: 9831349
Nature. 2023 May;617(7961):555-563
pubmed: 36996873
Acta Paediatr. 2008 Oct;97(10):1412-9
pubmed: 18616627
Hum Gene Ther. 2002 Jan 1;13(1):163-75
pubmed: 11779420
Nat Rev Genet. 2020 Apr;21(4):255-272
pubmed: 32042148
Mol Genet Metab. 2003 Sep-Oct;80(1-2):148-58
pubmed: 14567964
J Hum Genet. 2019 Sep;64(9):833-847
pubmed: 31110235
Curr Gene Ther. 2002 May;2(2):111-33
pubmed: 12109210
Methods Enzymol. 2012;507:229-54
pubmed: 22365777
Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30
pubmed: 25135652
Mol Ther. 2009 Aug;17(8):1340-6
pubmed: 19384294
Mol Ther. 2020 Mar 4;28(3):723-746
pubmed: 31972133
J Patient Rep Outcomes. 2021 Oct 25;5(1):110
pubmed: 34694515
Gene Ther. 2012 Apr;19(4):404-10
pubmed: 21850052
Genes Dis. 2017 Jun;4(2):43-63
pubmed: 28944281
Mol Genet Metab. 2010;100 Suppl 1:S97-105
pubmed: 20188616
Mol Ther Nucleic Acids. 2015 Nov 17;4:e264
pubmed: 26575098
J Inherit Metab Dis. 2018 Jan;41(1):81-90
pubmed: 29027067
Mol Ther. 2005 Aug;12(2):299-306
pubmed: 16043099
Mol Ther. 2020 Sep 2;28(9):2073-2082
pubmed: 32559433
Nat Biotechnol. 2016 Mar;34(3):334-8
pubmed: 26829317
Nature. 2023 May;617(7961):564-573
pubmed: 36996872
J Pediatr. 2002 Mar;140(3):321-7
pubmed: 11953730
Adv Pediatr. 1996;43:127-70
pubmed: 8794176
Hum Gene Ther. 2019 Jan;30(1):79-87
pubmed: 30027761
Mol Genet Metab. 2017 Apr;120(4):299-305
pubmed: 28283349
Hum Gene Ther Methods. 2016 Dec;27(6):228-237
pubmed: 27903094
Blood. 2021 Feb 11;137(6):763-774
pubmed: 33067633
Science. 2007 Jul 27;317(5837):477
pubmed: 17656716
Front Microbiol. 2011 Sep 19;2:194
pubmed: 21954398
Mol Ther. 2022 Dec 7;30(12):3515-3541
pubmed: 36203359
Mol Ther. 2006 Jul;14(1):25-33
pubmed: 16677864
N Engl J Med. 2011 Dec 22;365(25):2357-65
pubmed: 22149959
Mol Ther. 2012 Oct;20(10):1902-11
pubmed: 22990673
Signal Transduct Target Ther. 2020 Jan 3;5(1):1
pubmed: 32296011
J Pediatr. 2014 Apr;164(4):720-725.e6
pubmed: 24485820
Nature. 2023 May;617(7961):574-580
pubmed: 36996871
Liver Transpl. 2015 Sep;21(9):1208-18
pubmed: 25990417
N Engl J Med. 2014 Nov 20;371(21):1994-2004
pubmed: 25409372
Liver Transpl. 2003 Aug;9(8):783-8
pubmed: 12884189
Mol Ther. 2004 Sep;10(3):492-9
pubmed: 15336649
Curr Gene Ther. 2014;14(2):86-100
pubmed: 24588706
Mol Genet Metab. 2012 Feb;105(2):263-5
pubmed: 22129577
Trends Biotechnol. 2023 Jun;41(6):836-845
pubmed: 36503641
Liver Transpl. 2014 Jan;20(1):89-99
pubmed: 24136671
J Inherit Metab Dis. 2021 Nov;44(6):1311-1322
pubmed: 34232532
Am J Med Genet. 1991 May 1;39(2):228-9
pubmed: 2063931
Mol Ther. 2012 Nov;20(11):2014-7
pubmed: 23131853
Eur J Immunol. 1999 Mar;29(3):964-72
pubmed: 10092101
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230
pubmed: 30982989
Nat Med. 2006 Mar;12(3):342-7
pubmed: 16474400
Orphanet J Rare Dis. 2015 May 10;10:58
pubmed: 25958381
Hum Gene Ther. 2014 Sep;25(9):844-55
pubmed: 25072305
Mol Ther Methods Clin Dev. 2022 Nov 25;27:488-490
pubmed: 36458113
J Biochem. 1988 Feb;103(2):302-8
pubmed: 2836378
Signal Transduct Target Ther. 2022 May 21;7(1):166
pubmed: 35597779
Front Immunol. 2022 Sep 16;13:999021
pubmed: 36189251
Hum Gene Ther. 2013 Sep;24(9):814-9
pubmed: 24010702
Hum Gene Ther. 2022 Sep;33(17-18):879-888
pubmed: 36082993