State of the art: gene therapy of haemophilia

Haemophilia

Volumn 22, Issue , 2016, Pages 66-71

  Spencer, H T ^a   Riley, B E ^b   Doering, C B ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SANGAMO BIOSCIENCES INC   (United States)

Author keywords

adeno associated viral vector; gene therapy; lentiviral vector; stem cells

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8A; BLOOD CLOTTING FACTOR 9A; LENTIVIRUS VECTOR; PARVOVIRUS VECTOR; RECOMBINANT BLOOD CLOTTING FACTOR 8;

ADENO ASSOCIATED VIRUS; ARTICLE; AUTOLOGOUS STEM CELL TRANSPLANTATION; BIOENGINEERING; DRUG POTENCY; GENE CONSTRUCT; GENE EXPRESSION; GENETIC ENGINEERING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHILIA; HUMAN; NONHUMAN; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; REDUCED INTENSITY CONDITIONING; STEM CELL GENE THERAPY; TREATMENT RESPONSE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

EID: 84978882392     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.13011     Document Type: Article

References (35)

1. Chuah MK, Evens H, VandenDriessche T. Gene therapy for hemophilia. J Thromb Haemost 2013; 11(Suppl 1): 99–110.
2. Kotterman MA, Schaffer DV. Engineering adeno-associated viruses for clinical gene therapy. Nat Rev Genet 2014; 15: 445–51.
3. Lisowski L, Tay SS, Alexander IE. Adeno-associated virus serotypes for gene therapeutics. Curr Opin Pharmacol 2015; 24: 59–67.
4. Zincarelli C, Soltys S, Rengo G, Rabinowitz JE. Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection. Mol Ther 2008; 16: 1073–80.
5. Li S, Ling C, Zhong L, Li M, Su Q, He R et al. Efficient and targeted transduction of nonhuman primate liver with systemically delivered optimized AAV3B vectors. Mol Ther 2015; 23: 1867–76.
6. Wang L, Bell P, Somanathan S, Wang Q, He Z, Yu H et al. Comparative study of liver gene transfer with AAV vectors based on natural and engineered AAV capsids. Mol Ther 2015; 23: 1877–87.
7. Asokan A, Schaffer DV, Samulski RJ. The AAV vector toolkit: poised at the clinical crossroads. Mol Ther 2012; 20: 699–708.
8. Daya S, Berns KI. Gene therapy using adeno-associated virus vectors. Clin Microbiol Rev 2008; 21: 583–93.
9. Brown HC, Wright JF, Zhou S, Lytle AM, Shields JE, Spencer HT et al. Bioengineered coagulation factor VIII enables long-term correction of murine hemophilia A following liver-directed adeno-associated viral vector delivery. Mol Ther Methods Clin Dev 2014; 1: 14036.
10. Grieger JC, Samulski RJ. Packaging capacity of adeno-associated virus serotypes: impact of larger genomes on infectivity and postentry steps. J Virol 2005; 79: 9933–44.
11. Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med 2014; 371: 1994–2004.
12. Nathwani AC, Tuddenham EG, Rangarajan S, Rosales C, McIntosh J, Linch DC et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 2011; 365: 2357–65.
13. Manno CS, Pierce GF, Arruda VR, Glader B, Ragni M, Rasko JJ et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 2006; 12: 342–7.
14. Herzog RW. Hemophilia gene therapy: caught between a cure and an immune response. Mol Ther 2015; 23: 1411–2.
15. Monahan PE, Sun J, Gui T, Hu G, Hannah WB, Wichlan DG et al. Employing a gain-of-function factor IX variant R338L to advance the efficacy and safety of hemophilia B human gene therapy: preclinical evaluation supporting an ongoing adeno-associated virus clinical trial. Hum Gene Ther 2015; 26: 69–81.
16. Nault JC, Datta S, Imbeaud S, Franconi A, Mallet M, Couchy G et al. Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas. Nat Genet 2015; 47: 1187–93.
17. Lheriteau E, Davidoff AM, Nathwani AC. Haemophilia gene therapy: progress and challenges. Blood Rev 2015; 29: 321–8.
18. McIntosh J, Lenting PJ, Rosales C, Lee D, Rabbanian S, Raj D et al. Therapeutic levels of FVIII following a single peripheral vein administration of rAAV vector encoding a novel human factor VIII variant. Blood 2013; 121: 3335–44.
19. Bril WS, van Helden PM, Hausl C, Zuurveld MG, Ahmad RU, Hollestelle MJ et al. Tolerance to factor VIII in a transgenic mouse expressing human factor VIII cDNA carrying an Arg(593) to Cys substitution. Thromb Haemost 2006; 95: 341–7.
20. Chavez CL, Keravala A, Chu JN, Farruggio AP, Cuellar VE, Voorberg J et al. Long-term expression of human coagulation factor VIII in a tolerant mouse model using the phiC31 integrase system. Hum Gene Ther 2012; 23: 390–8.
21. Lytle AM, Brown HC, Paik NY, Knight KA, Wright JF, Spencer HT et al. Effects of FVIII immunity on hepatocyte and hematopoietic stem cell-directed gene therapy of murine hemophilia A. Mol Ther Methods Clin Dev 2016; 3: 15056.
22. Billingham RE, Brent L, Medawar PB. Actively acquired tolerance of foreign cells. Nature 1953; 172: 603–6.
23. Bracy JL, Sachs DH, Iacomini J. Inhibition of xenoreactive natural antibody production by retroviral gene therapy. Science 1998; 281: 1845–7.
24. Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013; 341: 1233151.
25. Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013; 341: 1233158.
26. McGarrity GJ, Hoyah G, Winemiller A, Andre K, Stein D, Blick G et al. Patient monitoring and follow-up in lentiviral clinical trials. J Gene Med 2013; 15: 78–82.
27. Brown HC, Gangadharan B, Doering CB. Enhanced biosynthesis of coagulation factor VIII through diminished engagement of the unfolded protein response. J Biol Chem 2011; 286: 24451–7.
28. Doering CB, Healey JF, Parker ET, Barrow RT, Lollar P. Identification of porcine coagulation factor VIII domains responsible for high level expression via enhanced secretion. J Biol Chem 2004; 279: 6546–52.
29. Doering CB, Spencer HT. Advancements in gene transfer-based therapy for hemophilia A. Expert Rev Hematol 2009; 2: 673–83.
30. Spencer HT, Denning G, Gautney RE, Dropulic B, Roy AJ, Baranyi L et al. Lentiviral vector platform for production of bioengineered recombinant coagulation factor VIII. Mol Ther 2011; 19: 302–9.
31. Acar M, Kocherlakota KS, Murphy MM, Peyer JG, Oguro H, Inra CN et al. Deep imaging of bone marrow shows non-dividing stem cells are mainly perisinusoidal. Nature 2015; 526: 126–30.
32. Ide LM, Gangadharan B, Chiang KY, Doering CB, Spencer HT. Hematopoietic stem-cell gene therapy of hemophilia A incorporating a porcine factor VIII transgene and nonmyeloablative conditioning regimens. Blood 2007; 110: 2855–63.
33. Doering CB, Gangadharan B, Dukart HZ, Spencer HT. Hematopoietic stem cells encoding porcine factor VIII induce pro-coagulant activity in hemophilia A mice with pre-existing factor VIII immunity. Mol Ther 2007; 15: 1093–9.
34. Ide LM, Iwakoshi NN, Gangadharan B, Jobe S, Moot R, McCarty D et al. Functional aspects of factor VIII expression after transplantation of genetically-modified hematopoietic stem cells for hemophilia A. J Gene Med 2010; 12: 333–44.
35. Kuether EL, Schroeder JA, Fahs SA, Cooley BC, Chen Y, Montgomery RR et al. Lentivirus-mediated platelet gene therapy of murine hemophilia A with pre-existing anti-factor VIII immunity. J Thromb Haemost 2012; 10: 1570–80.