Lentiviral vectors for the treatment of primary immunodeficiencies

Journal of Inherited Metabolic Disease

Volumn 37, Issue 4, 2014, Pages 525-533

  Farinelli, Giada ^a   Capo, Valentina ^a   Scaramuzza, Samantha ^b   Aiuti, Alessandro ^a,b,c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LENTIVIRUS VECTOR; RETROVIRUS VECTOR; ADENOSINE DEAMINASE;

ADENOSINE DEAMINASE DEFICIENCY; ARTEMIS DEFICIENCY; CHRONIC GRANULOMATOUS DISEASE; CONFERENCE PAPER; DRUG EFFICACY; DRUG SAFETY; ENHANCER REGION; ENTEROPATHY; HEMATOPOIETIC STEM CELL; HUMAN; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; IN VITRO STUDY; IPEX SYNDROME; LYMPHOPROLIFERATIVE DISEASE; NONHUMAN; POLYENDOCRINOPATHY; RECOMBINATION ACTIVATING GENES 1 DEFICIENCY; RECOMBINATION ACTIVATING GENES 2 DEFICIENCY; TREATMENT OUTCOME; VIRAL GENE THERAPY; WISKOTT ALDRICH SYNDROME; X LINKED SEVERE COMBINED IMMUNODEFICIENCY; AGAMMAGLOBULINEMIA; ANIMAL; DEFICIENCY; GENE THERAPY; GENE VECTOR; GENETICS; GRANULOMATOUS DISEASE, CHRONIC; IMMUNOLOGIC DEFICIENCY SYNDROMES; LENTIVIRINAE; PROCEDURES; SEVERE COMBINED IMMUNODEFICIENCY; THERAPEUTIC USE; WISKOTT-ALDRICH SYNDROME;

ADENOSINE DEAMINASE; AGAMMAGLOBULINEMIA; ANIMALS; GENETIC THERAPY; GENETIC VECTORS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LENTIVIRUS; SEVERE COMBINED IMMUNODEFICIENCY; WISKOTT-ALDRICH SYNDROME;

EID: 84904136263     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9690-y     Document Type: Conference Paper

References (82)

1. Aiuti A, Vai S, Mortellaro A et al (2002) Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med 8(5):423-425 (Pubitemid 34546725)
2. Aiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 360(5):447-458
3. Aiuti A, Bacchetta R, Seger R, Villa A, Cavazzana-Calvo M (2012) Gene therapy for primary immunodeficiencies: Part 2. Curr Opin Immunol 24(5):585-591
4. Aiuti A, Biasco L, Scaramuzza S et al (2013a) Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 341(6148):1233151
5. Aiuti A, Cossu G, de Felipe P et al (2013b) The committee for advanced therapies' of the European Medicines Agency reflection paper on management of clinical risks deriving from insertional mutagenesis. Hum Gene Ther Clin Dev 24(2):47-54
6. Allan SE, Passerini L, Bacchetta R et al (2005) The role of 2 FOXP3 isoforms in the generation of human CD4+ Tregs. J Clin Invest 115(11):3276-3284 (Pubitemid 41567592)
7. Allan SE, Alstad AN, Merindol N et al (2008) Generation of potent and stable human CD4+ T regulatory cells by activation-independent expression of FOXP3. Mol Ther 16(1):194-202
8. Antoniou M, Harland L, Mustoe Tet al (2003) Transgenes encompassing dual-promoter CpG islands from the human TBP and HNRPA2B1 loci are resistant to heterochromatin-mediated silencing. Genomics 82(3):269-279 (Pubitemid 36952300)
9. Astrakhan A, Sather BD, Ryu BY et al (2012) Ubiquitous high-level gene expression in hematopoietic lineages provides effective lentiviral gene therapy of murine Wiskott-Aldrich syndrome. Blood 119(19):4395-4407
10. Barde I, Laurenti E, Verp S et al (2011) Lineage- and stage-restricted lentiviral vectors for the gene therapy of chronic granulomatous disease. Gene Ther 18(11):1087-1097
11. Barzaghi F, Passerini L, Gambineri E et al (2012) Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. J Autoimmun 38(1):49-58
12. Benjelloun F, Garrigue A, Demerens-de Chappedelaine C et al (2008) Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. Mol Ther 16(8):1490-1499
13. Bianchi M, Hakkim A, Brinkmann V et al (2009) Restoration of NET formation by gene therapy in CGD controls aspergillosis. Blood 114(13):2619-2622
14. Biasco L, Ambrosi A, Pellin D et al (2011) Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell. EMBO Mol Med 3(2):89-101
15. Biasco L, Baricordi C, Aiuti A (2012) Retroviral integrations in gene therapy trials. Mol Ther 20:709-716
16. Biffi A, Montini E, Lorioli L et al (2013) Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 341(6148):1233158
17. Booth C, Gilmour KC, Veys P et al (2011) X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood 117(1):53-62
18. Bousfiha AA, Jeddane L, Ailal F et al (2013) A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 33(6):1078-1087
19. Bousso P, Wahn V, Douagi I et al (2000) Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc Natl Acad Sci U S A 97(1):274-278 (Pubitemid 30055821)
20. Boztug K, Schmidt M, Schwarzer A et al (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med 363(20):1918-1927
21. Brady T, Agosto LM, Malani N, Berry CC, O'Doherty U, Bushman F (2009) HIV integration site distributions in resting and activated CD4+ T cells infected in culture. AIDS 23(12):1461-1471
22. Brendel C, Muller-Kuller U, Schultze-Strasser S et al (2011) Physiological regulation of transgene expression by a lentiviral vector containing the A2UCOE linked to a myeloid promoter. Gene Ther 24(3):1018-1029
23. Brown BD, Naldini L (2009) Exploiting and antagonizing microRNA regulation for therapeutic and experimental applications. Nat Rev Genet 10(8):578-585
24. Brown BD, Gentner B, Cantore A et al (2007) Endogenous microRNA can be broadly exploited to regulate transgene expression according to tissue, lineage and differentiation state. Nat Biotechnol 25(12):1457-1467 (Pubitemid 350233144)
25. Candotti F, Shaw KL, Muul L et al (2012) Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 120(18):3635-3646
26. Carbonaro DA, Jin X, Cotoi D et al (2008) Neonatal bone marrow transplantation of ADA-deficient SCID mice results in immunologic reconstitution despite low levels of engraftment and an absence of selective donor T lymphoid expansion. Blood 111(12):5745-5754
27. Carbonaro DA, Zhang L, Jin X, et al (2013) Pre-clinical demonstration of lentiviral vector mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency. Mol Ther doi:10.1038/mt.2013.265
28. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G et al (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288(5466):669-672 (Pubitemid 30241569)
29. Charrier S, Dupre L, Scaramuzza S et al (2007) Lentiviral vectors targeting WASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients. Gene Ther 14(5):415-428
30. Chinen J, Davis J, De Ravin SS et al (2007) Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood 110(1):67-73 (Pubitemid 47026820)
31. Corrigan-Curay J, Cohen-Haguenauer O, O'Reilly M et al (2012) Challenges in vector and trial design using retroviral vectors for long-term gene correction in hematopoietic stem cell gene therapy. Mol Ther 20(6):1084-1094
32. Di Matteo G, Giordani L, Finocchi A et al (2009) Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. Mol Immunol 46(10):1935-1941
33. Dupre L, Marangoni F, Scaramuzza S et al (2006) Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation. Hum Gene Ther 17(3):303-313
34. Fischer A, Cavazzana-Calvo M (2008) Gene therapy of inherited diseases. Lancet 371(9629):2044-2047 (Pubitemid 351799862)
35. Gaspar HB, Cooray S, Gilmour KC et al (2011a) Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med 3(97):97ra79
36. Gaspar HB, Cooray S, Gilmour KC et al (2011b) Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med 3(97):97ra80
37. Gennery AR, Slatter MA, Grandin L et al (2010) Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol 126(3):602-610, e601-611
38. Greene MR, Lockey T, Mehta PK et al (2012) Transduction of human CD34+ repopulating cells with a self-inactivating lentiviral vector for SCID-X1 produced at clinical scale by a stable cell line. Hum Gene Ther Methods 23(5):297-308
39. Grez M, Reichenbach J, Schwable J, Seger R, Dinauer MC, Thrasher AJ (2011) Gene therapy of chronic granulomatous disease: the engraftment dilemma. Mol Ther 19(1):28-35
40. Griffith LM, Cowan MJ, Notarangelo LD et al (2013) Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol doi:10.1016/j.jaci.2013.07.052.
41. Gungor T, Teira P, Slatter M et al (2014) Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet 383(9915):436-448
42. Hacein-Bey-Abina S, von Kalle C, Schmidt M et al (2003) A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 348(3):255-256 (Pubitemid 36077924)
43. Hacein-Bey-Abina S, Hauer J, Lim A et al (2010) Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 363(4):355-364
44. Hassan A, Booth C, Brightwell A et al (2012) Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood 120(17):3615-3624, quiz 3626
45. Henter JI, Samuelsson-Horne A, Arico M et al (2002) Treatment of hemophagocytic lymphohistiocytosis wi t h HLH-94 immunochemotherapy and bone marrow transplantation. Blood 100(7):2367-2373
46. Hershfield MS (1998) Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. Semin Hematol 35(4):291-298
47. Holland SM (2013) Chronic granulomatous disease. Hematol Oncol Clin North Am 27(1):89-99, viii. doi:10.1016/j.hoc.2012.11.002
48. Huston MW, van Til NP, Visser TP et al (2011) Correction of murine SCID-X1 by lentiviral gene therapy using a codon-optimized IL2RG gene and minimal pretransplant conditioning. Mol Ther 19(10):1867-1877
49. Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL (2011) Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 127(6):1319-1326, quiz 1327-1318
50. Kaufmann KB, Buning H, Galy A, Schambach A, Grez M (2013) Gene therapy on the move. EMBO Mol Med 5(11):1642-1661
51. Lagresle-Peyrou C, Benjelloun F, Hue C et al (2008) Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. Mol Ther 16(2):396-403 (Pubitemid 351168049)
52. Ma CS, Nichols KE, Tangye SG (2007) Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol 25:337-379 (Pubitemid 46705271)
53. Marangoni F, Poli A, Agostoni C et al (2009) A consensus document on the role of breakfast in the attainment and maintenance of health and wellness. Acta Biomed 80(2):166-171
54. Massaad MJ, Ramesh N, Geha RS (2013) Wiskott-Aldrich syndrome: a comprehensive review. Ann N YAcad Sci 1285:26-43
55. Moratto D, Giliani S, Bonfim C et al (2011) Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood 118(6):1675-1684
56. Mortellaro A, Hernandez RJ, Guerrini MM et al (2006) Ex vivo gene therapy with lentiviral vectors rescues adenosine deaminase (ADA)-deficient mice and corrects their immune and metabolic defects. Blood 108(9):2979-2988
57. Moshous D, Callebaut I, de Chasseval R et al (2001) Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105(2):177-186 (Pubitemid 32429508)
58. Mukherjee S, Thrasher AJ (2013) Gene therapy for PIDs: progress, pitfalls and prospects. Gene 525(2):174-181
59. Multhaup M, Karlen AD, Swanson DL et al (2010) Cytotoxicity associated with artemis overexpression after lentiviral vector-mediated gene transfer. Hum Gene Ther 21(7):865-875
60. Neven B, Leroy S, Decaluwe H et al (2009) Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood 113(17):4114-4124
61. Noguchi M, Yi H, Rosenblatt HM et al (1993) Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73(1):147-157 (Pubitemid 23115456)
62. Ott MG, Schmidt M, Schwarzwaelder K et al (2006) Correction of Xlinked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 12(4):401-409
63. Pachlopnik Schmid J, Canioni D, Moshous D et al (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 117(5):1522-1529
64. Pai SY, Notarangelo LD (2010) Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. Immunol Allergy Clin North Am30(2):179-194
65. Passerini L, Mel ER, Sartirana C et al (2013) CD4+ T cells from IPEX patients convert into functional and stable regulatory T cells by FOXP3 gene transfer. Sci Transl Med 5(215):215ra174
66. Pike-Overzet K, Rodijk M, Ng YY et al (2011) Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer. Leukemia 25(9):1471-1483
67. Revy P, Buck D, le Deist F, de Villartay JP (2005) The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 87:237-295 (Pubitemid 41133495)
68. Rivat C, Booth C, Alonso-Ferrero M et al (2013) SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood 121(7):1073-1076
69. Santilli G, Almarza E, Brendel C et al (2011) Biochemical correction of X-CGD by a novel chimeric promoter regulating high levels of transgene expression in myeloid cells. Mol Ther 19(1):122-132
70. Scaramuzza S, Biasco L, Ripamonti A et al (2013) Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome. Mol Ther 21(1):175-184
71. Schwarz K, Gauss GH, Ludwig L et al (1996) RAG mutations in human B cell-negative SCID. Science 274(5284):97-99 (Pubitemid 26332732)
72. Scobie L, Hector RD, Grant L et al (2009) A novel model of SCID-X1 reconstitution reveals predisposition to retrovirus-induced lymphoma but no evidence of gamma C gene oncogenicity.Mol Ther 17(6):1031-1038
73. Seger RA (2010) Advances in the diagnosis and treatment of chronic granulomatous disease. Curr Opin Hematol Nov 11. [Epub ahead of print]
74. Stein S, Ott MG, Schultze-Strasser S et al (2010) Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16(2):198-204
75. Thrasher AJ, Burns SO (2010)WASP: a key immunological multitasker. Nat Rev Immunol 10(3):182-192
76. van der Loo JC, Swaney WP, Grassman E et al (2012) Critical variables affecting clinical-grade production of the self-inactivating gamma-retroviral vector for the treatment of X-linked severe combined immunodeficiency. Gene Ther 19(8):872-876
77. Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Med (Baltimore) 79(3):155-169 (Pubitemid 30327530)
78. Yagi H, Nomura T, Nakamura K et al (2004) Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells. Int Immunol 16(11):1643-1656
79. Zhang F, Thornhill SI, Howe SJ et al (2007) Lentiviral vectors containing an enhancer-less ubiquitously acting chromatin opening element (UCOE) provide highly reproducible and stable transgene expression in hematopoietic cells. Blood 110(5):1448-1457 (Pubitemid 47443959)
80. Zhang F, Frost AR, Blundell MP, Bales O, Antoniou MN, Thrasher AJ (2010) A ubiquitous chromatin opening element (UCOE) confers resistance to DNA methylation-mediated silencing of lentiviral vectors. Mol Ther 18(9):1640-1649
81. Zhou S, Mody D, DeRavin SS et al (2010) A self-inactivating lentiviral vector for SCID-X1 gene therapy that does not activate LMO2 expression in human T cells. Blood 116(6):900-908
82. Ziegler SF (2006) FOXP3: of mice and men. Annu Rev Immunol 24:209-226