Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.

AAV6 CRISPR-Cas9 gene editing gene therapy hematopoietic stem cell hemolytic anemia pyruvate kinase deficiency

Journal

Molecular therapy. Methods & clinical development
ISSN: 2329-0501
Titre abrégé: Mol Ther Methods Clin Dev
Pays: United States
ID NLM: 101624857

Informations de publication

Date de publication:
10 Sep 2021
Historique:
received: 02 02 2021
accepted: 10 05 2021
entrez: 6 9 2021
pubmed: 7 9 2021
medline: 7 9 2021
Statut: epublish

Résumé

Pyruvate kinase deficiency (PKD), an autosomal-recessive disorder, is the main cause of chronic non-spherocytic hemolytic anemia. PKD is caused by mutations in the pyruvate kinase, liver and red blood cell (

Identifiants

pubmed: 34485608
doi: 10.1016/j.omtm.2021.05.001
pii: S2329-0501(21)00085-1
pmc: PMC8399088
doi:

Types de publication

Journal Article

Langues

eng

Pagination

237-248

Informations de copyright

© 2021 The Author(s).

Déclaration de conflit d'intérêts

J.-C.S. and J.A.B. are consultants and hold shares and receive funding from Rocket Pharma. M.P. serves on the scientific advisory board of CRISPR Therapeutics and Graphite Bio. D.P.D. is employed by Graphite Bio. R.T., M.S.S., and M.A.B. are employed by Integrated DNA Technologies, Inc (IDT), which manufactures reagents similar to some described in the manuscript. R.T. and M.A.B. own equity in DHR, the parent company of IDT. All other authors declare no competing interests.

Références

Am J Hum Genet. 1984 May;36(3):634-9
pubmed: 6731438
Cell Stem Cell. 2019 Apr 4;24(4):551-565.e8
pubmed: 30905619
Br J Haematol. 2016 Sep;174(6):952-61
pubmed: 27470218
Gene Ther. 2021 Jun;28(6):373-390
pubmed: 33712802
Nat Biotechnol. 2016 Apr;34(4):424-9
pubmed: 26950749
Nat Commun. 2018 Dec 21;9(1):5454
pubmed: 30575740
Blood Rev. 2007 Jul;21(4):217-31
pubmed: 17360088
EMBO Mol Med. 2014 May 23;6(6):835-48
pubmed: 24859981
Clin Genet. 2020 Jan;97(1):89-102
pubmed: 31231794
Science. 2013 Oct 11;342(6155):253-7
pubmed: 24115442
Mol Ther Methods Clin Dev. 2020 May 04;17:1097-1107
pubmed: 32478125
N Engl J Med. 2018 Apr 19;378(16):1479-1493
pubmed: 29669226
Nat Med. 2018 Aug;24(8):1216-1224
pubmed: 30082871
N Engl J Med. 2021 Jan 21;384(3):252-260
pubmed: 33283989
Nat Commun. 2016 Jan 28;7:10548
pubmed: 26817820
J Perinatol. 2010 Mar;30(3):233-6
pubmed: 20182430
Sci Transl Med. 2017 Jan 11;9(372):
pubmed: 28077679
Stem Cell Reports. 2015 Dec 8;5(6):1053-1066
pubmed: 26549847
Science. 2018 Jan 12;359(6372):
pubmed: 29326244
Nat Commun. 2017 Jun 23;8:16007
pubmed: 28643790
Nature. 2016 Nov 17;539(7629):384-389
pubmed: 27820943
Rambam Maimonides Med J. 2014 Oct 29;5(4):e0028
pubmed: 25386344
EMBO Mol Med. 2017 Nov;9(11):1574-1588
pubmed: 28899930
Haematologica. 2020 Jan 23;106(1):238-249
pubmed: 31974203
N Engl J Med. 2017 Mar 2;376(9):848-855
pubmed: 28249145
Nat Med. 2019 Feb;25(2):234-241
pubmed: 30664781
Nucleic Acids Res. 2014 Jan;42(2):1365-78
pubmed: 24157834
Gene Ther. 2011 May;18(5):479-87
pubmed: 21160533
Blood. 2020 Sep 10;136(11):1241-1249
pubmed: 32702739
PLoS One. 2019 Oct 16;14(10):e0223775
pubmed: 31618280
Blood. 2018 May 17;131(20):2183-2192
pubmed: 29549173
Mol Ther. 2019 May 8;27(5):986-998
pubmed: 30930113
Nature. 2014 Jun 12;510(7504):235-240
pubmed: 24870228
Nature. 2010 Sep 16;467(7313):318-22
pubmed: 20844535
Blood. 2016 May 26;127(21):2513-22
pubmed: 26903548
Sci Rep. 2016 Oct 07;6:34531
pubmed: 27713537
Mol Ther. 2016 Aug;24(7):1187-98
pubmed: 27138040
Mol Ther. 2009 Dec;17(12):2000-9
pubmed: 19755962
Nature. 2018 Jan 11;553(7687):171-177
pubmed: 29323295
Nat Med. 2018 Jul;24(7):927-930
pubmed: 29892067
Blood Cells Mol Dis. 2016 Mar;57:100-9
pubmed: 26832193
Nat Biotechnol. 2015 May;33(5):538-42
pubmed: 25798939
Blood. 2021 May 13;137(19):2598-2608
pubmed: 33623984
Nat Med. 2019 May;25(5):776-783
pubmed: 30911135
Mol Ther Methods Clin Dev. 2017 Jan 11;4:137-148
pubmed: 28344999
Haematologica. 2018 Feb;103(2):e82-e86
pubmed: 29242305
Mol Ther Methods Clin Dev. 2018 Aug 14;10:313-326
pubmed: 30182035

Auteurs

Sara Fañanas-Baquero (S)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Oscar Quintana-Bustamante (O)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Daniel P Dever (DP)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Omaira Alberquilla (O)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Rebeca Sanchez-Dominguez (R)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Joab Camarena (J)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Isabel Ojeda-Perez (I)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Mercedes Dessy-Rodriguez (M)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Rolf Turk (R)

Integrated DNA Technologies, Coralville, IA 52241, USA.

Mollie S Schubert (MS)

Integrated DNA Technologies, Coralville, IA 52241, USA.

Annalisa Lattanzi (A)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Liwen Xu (L)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Jose L Lopez-Lorenzo (JL)

Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid 28015, Spain.

Paola Bianchi (P)

UOC Ematologia, Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milan 20122, Italy.

Juan A Bueren (JA)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Mark A Behlke (MA)

Integrated DNA Technologies, Coralville, IA 52241, USA.

Matthew Porteus (M)

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

Jose-Carlos Segovia (JC)

Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
Unidad Mixta de Terapias Avanzadas, Instituto de Investigación Sanitaria Fundación Jiménez (IIS-FJD, UAM), Madrid 28040, Spain.

Classifications MeSH