Exon-Skipping in Duchenne Muscular Dystrophy.
Journal
Journal of neuromuscular diseases
ISSN: 2214-3602
Titre abrégé: J Neuromuscul Dis
Pays: Netherlands
ID NLM: 101649948
Informations de publication
Date de publication:
2021
2021
Historique:
pubmed:
29
6
2021
medline:
18
12
2021
entrez:
28
6
2021
Statut:
ppublish
Résumé
Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD. Over the course of the last 30 years, the research that supports this development has moved into the realm of clinical trials and regulatory drug approvals. Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the clinical development of exon skipping for the treatment of DMD. In addition to the generation of clinical treatments that are being used for patient care, this research sets the stage for future therapeutic development with a focus on increasing efficacy while providing safety and addressing the multi-systemic aspects of DMD.
Identifiants
pubmed: 34180420
pii: JND210682
doi: 10.3233/JND-210682
pmc: PMC8673534
doi:
Substances chimiques
DMD protein, human
0
Dystrophin
0
Oligonucleotides, Antisense
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
S343-S358Références
J Clin Med. 2019 May 10;8(5):
pubmed: 31083420
Ann Neurol. 2021 Feb;89(2):280-292
pubmed: 33159473
Lancet. 2018 Feb 3;391(10119):451-461
pubmed: 29174484
Neurochem Int. 2019 Oct;129:104489
pubmed: 31199961
Muscle Nerve. 2020 Sep;62(3):369-376
pubmed: 32564389
Muscle Nerve. 2013 Jul;48(1):32-54
pubmed: 23677550
J Comp Eff Res. 2020 Oct;9(14):973-984
pubmed: 32851872
Mol Ther Nucleic Acids. 2018 Dec 7;13:442-449
pubmed: 30388618
Mol Ther. 2017 Nov 1;25(11):2561-2572
pubmed: 28865998
Arthritis Rheumatol. 2020 Jul;72(7):1170-1183
pubmed: 32009304
Hum Gene Ther. 2009 Sep;20(9):955-65
pubmed: 19469709
Neuromuscul Disord. 2018 Jan;28(1):4-15
pubmed: 29203355
Hum Gene Ther. 2021 Sep;32(17-18):882-894
pubmed: 33406986
J Neuromuscul Dis. 2020;7(1):15-31
pubmed: 31796685
Ann Clin Transl Neurol. 2020 Dec;7(12):2393-2408
pubmed: 33285037
Ann Neurol. 2017 Jan;81(1):162-164
pubmed: 27997035
Nat Commun. 2017 Oct 16;8(1):941
pubmed: 29038471
Neurology. 2018 Jun 12;90(24):e2146-e2154
pubmed: 29752304
N Engl J Med. 2007 Dec 27;357(26):2677-86
pubmed: 18160687
Cell Rep. 2015 Sep 8;12(10):1678-90
pubmed: 26321630
Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464
pubmed: 32616572
Neuromuscul Disord. 2017 Mar;27(3):203-213
pubmed: 28169120
Hum Mol Genet. 2015 Oct 15;24(20):5880-90
pubmed: 26264580
JAMA Neurol. 2020 Sep 1;77(9):1122-1131
pubmed: 32539076
Mol Ther. 2004 Nov;10(5):821-8
pubmed: 15509500
J Cell Sci. 2011 Nov 1;124(Pt 21):3654-64
pubmed: 22045730
PLoS One. 2010 Jan 20;5(1):e8803
pubmed: 20098710
Lancet. 2011 Aug 13;378(9791):595-605
pubmed: 21784508
Mol Ther Methods Clin Dev. 2015 Apr 08;2:15010
pubmed: 26029721
Mol Neurobiol. 2020 Mar;57(3):1748-1767
pubmed: 31836945
Compr Physiol. 2015 Jul 1;5(3):1223-39
pubmed: 26140716
Nat Med. 2003 Aug;9(8):1009-14
pubmed: 12847521
Front Immunol. 2021 Mar 17;12:658399
pubmed: 33815421
Dev Med Child Neurol. 2017 Aug;59(8):837-842
pubmed: 28509411
J Pathol. 2019 Jul;248(3):339-351
pubmed: 30883742
Mol Ther. 2015 Apr;23(4):627-37
pubmed: 25586688
JAMA. 2016 Dec 13;316(22):2357-2358
pubmed: 27775756
Neurology. 2020 Apr 14;94(15):e1622-e1633
pubmed: 32184340
Neurology. 1989 Aug;39(8):1011-7
pubmed: 2668783
Eur J Pediatr. 2019 Feb;178(2):253-258
pubmed: 30448867
Neurology. 2005 Sep 27;65(6):826-34
pubmed: 16093456
N Engl J Med. 2011 Apr 21;364(16):1513-22
pubmed: 21428760
J Pers Med. 2021 Jan 14;11(1):
pubmed: 33466756
J Gene Med. 2009 Mar;11(3):257-66
pubmed: 19140108
Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):42-7
pubmed: 11120883
JAMA Neurol. 2014 Jan;71(1):32-40
pubmed: 24217213
Sci Rep. 2017 Oct 3;7(1):12575
pubmed: 28974727
Hum Genet. 1999 Jul-Aug;105(1-2):2-9
pubmed: 10480348
Ann Neurol. 2013 Nov;74(5):637-47
pubmed: 23907995
Am J Pathol. 2011 Jul;179(1):12-22
pubmed: 21703390
Gene Ther. 2007 Sep;14(17):1249-60
pubmed: 17581597
Nat Med. 2006 Feb;12(2):175-7
pubmed: 16444267
Sci Rep. 2017 Nov 22;7(1):16060
pubmed: 29167533
Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13714-9
pubmed: 11095710
Lancet Neurol. 2009 Oct;8(10):918-28
pubmed: 19713152
Biomark Med. 2019 Oct;13(14):1209-1225
pubmed: 31379197
Biochem Biophys Res Commun. 2002 May 17;293(4):1265-72
pubmed: 12054513
Nucleic Acid Ther. 2019 Feb;29(1):13-15
pubmed: 30526286
Gene Ther. 2010 Jan;17(1):132-40
pubmed: 19759562
J Neurol. 1993 Feb;240(2):98-104
pubmed: 8437027
Lancet. 2016 Oct 1;388(10052):1350
pubmed: 27707475
Lancet Neurol. 2014 Oct;13(10):987-96
pubmed: 25209738
Mol Ther. 2012 Feb;20(2):462-7
pubmed: 22086232
J Gene Med. 2011 Sep;13(9):497-506
pubmed: 22144143
Lancet Neurol. 2003 Dec;2(12):731-40
pubmed: 14636778
Ann Clin Transl Neurol. 2018 Jul 11;5(8):913-926
pubmed: 30128316
Neurology. 2020 May 26;94(21):e2270-e2282
pubmed: 32139505
Sci Transl Med. 2018 Apr 18;10(437):
pubmed: 29669851
Brain. 2011 Dec;134(Pt 12):3547-59
pubmed: 22102647
JAMA Netw Open. 2021 Jan 4;4(1):e2031851
pubmed: 33394000
JAMA Neurol. 2020 Aug 1;77(8):982-991
pubmed: 32453377
Ann Neurol. 2009 Jun;65(6):667-76
pubmed: 19288467
J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):747-53
pubmed: 24292997
Mol Ther. 2007 Jun;15(6):1160-6
pubmed: 17426713