Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer

Blood

Volumn 119, Issue 13, 2012, Pages 3038-3041

  Buchlis, George ^a,b   Podsakoff, Gregory M ^a   Radu, Antonetta ^a   Hawk, Sarah M ^c   Flake, Alan W ^a   Mingozzi, Federico ^a   High, Katherine A ^a,b,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; BLOOD CLOTTING FACTOR 9 CONCENTRATE; GENOMIC DNA;

ADENOVIRUS; ADULT; ARTICLE; CASE REPORT; DISEASE SEVERITY; GENE EXPRESSION; GENE SEQUENCE; GENE TRANSFER; HEMOPHILIA B; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INJECTION; MALE; MUSCLE BIOPSY; MUSCLE TISSUE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; STAINING; TRANSGENICS; VIRAL GENE DELIVERY SYSTEM; WESTERN BLOTTING;

EID: 84859198455     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-09-382317     Document Type: Article

References (19)

1. Xiao X, Li J, Samulski RJ. Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector. J Virol. 1996;70(11):8098-8108. (Pubitemid 26339120)
2. Kessler PD, Podsakoff GM, Chen X, et al. Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein. Proc Natl Acad Sci U S A. 1996;93(24):14082-14087. (Pubitemid 26424249)
3. Fisher KJ, Jooss K, Alston J, et al. Recombinant adeno-associated virus for muscle directed gene therapy. Nat Med. 1997;3(3):306-312. (Pubitemid 27112928)
4. Snyder RO, Spratt SK, Lagarde C, et al. Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice. Hum Gene Ther. 1997;8(16):1891-1900. (Pubitemid 27499662)
5. Song S, Morgan M, Ellis T, et al. Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci U S A. 1998;95(24):14384-14388. (Pubitemid 28549376)
6. Herzog RW, Hagstrom JN, Kung SH, et al. Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus. Proc Natl Acad Sci U S A. 1997;94(11):5804-5809. (Pubitemid 27241852)
7. Monahan PE, Samulski RJ, Tazelaar J, et al. Direct intramuscular injection with recombinant AAV vectors results in sustained expression in a dog model of hemophilia. Gene Ther. 1998;5(1):40-49. (Pubitemid 28045068)
8. Chao H, Samulski R, Bellinger D, Monahan P, Nichols T, Walsh C. Persistent expression of canine factor IX in hemophilia B canines. Gene Ther. 1999;6(10):1695-1704. (Pubitemid 29485944)
9. Herzog RW, Yang EY, Couto LB, et al. Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. Nat Med. 1999;5(1):56-63. (Pubitemid 29050999)
10. Kay MA, Manno CS, Ragni MV, et al. Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector. Nat Genet. 2000;24(3):257-261. (Pubitemid 30132193)
11. Manno CS, Chew AJ, Hutchison S, et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood. 2003;101(8):2963-2972. (Pubitemid 36857981)
12. Jiang H, Pierce GF, Ozelo MC, et al. Evidence of multiyear factor IX expression by AAV-mediated gene transfer to skeletal muscle in an individual with severe hemophilia B. Mol Ther. 2006;14(3):452-455. (Pubitemid 44184967)
13. Herzog RW, Fields PA, Arruda VR, et al. Influence of vector dose on factor IX-specific T and B cell responses in muscle-directed gene therapy. Hum Gene Ther. 2002;13(11):1281-1291. (Pubitemid 35034508)
14. Arruda VR, Schuettrumpf J, Herzog RW, et al. Safety and efficacy of factor IX gene transfer to skeletal muscle in murine and canine hemophilia B models by adeno-associated viral vector serotype 1. Blood. 2004;103(1):85-92. (Pubitemid 38029922)
15. Mingozzi F, Meulenberg JJ, Hui DJ, et al. AAV-1-mediated gene transfer to skeletal muscle in humans results in dose-dependent activation of capsid-specific T cells. Blood. 2009;114(10):2077-2086.
16. Flotte TR, Trapnell BC, Humphries M, et al. Phase 2 clinical trial of a recombinant adeno-associated virus vector expressing alpha 1 antitrypsin: interim results. Hum Gene Ther. 2011;22(10):1239-1247.
17. Arruda VR, Stedman HH, Nichols TC, et al. Regional intravascular delivery of AAV-2-F.IX to skeletal muscle achieves long-term correction of hemophilia B in a large animal model. Blood. 2005;105(9):3458-3464. (Pubitemid 40628186)
18. Arruda VR, Stedman HH, Haurigot V, et al. Peripheral transvenular delivery of adeno-associated viral vectors to skeletal muscle as a novel therapy for hemophilia B. Blood. 2010;115(23): 4678-4688.
19. Haurigot V, Mingozzi F, Buchlis G, et al. Safety of AAV factor IX peripheral transvenular gene delivery to muscle in hemophilia B dogs. Mol Ther. 2010;18(7):1318-1329.