New high-technology products for the treatment of haemophilia

Haemophilia, Supplement

Volumn 10, Issue 4, 2004, Pages 55-63

  Pipe, S W ^a   Saint Remy, J M ^b   Walsh, C E ^c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Anti idiotype antibodies; Bioengineering; Haemophilia; RNA repair

Indexed keywords

ANTIIDIOTYPIC ANTIBODY; B7 ANTIGEN; BLOOD CLOTTING FACTOR 8 INHIBITOR; CD20 ANTIBODY; CD40 LIGAND MONOCLONAL ANTIBODY; CHAPERONE; COMPLEMENTARY DNA; HEMOSTATIC AGENT; RECOMBINANT BLOOD CLOTTING FACTOR 8; RECOMBINANT BLOOD CLOTTING FACTOR 9; RNA;

ANTIBODY COMBINING SITE; ANTIGEN BINDING; BACTERIOPHAGE; BINDING AFFINITY; BIOENGINEERING; BIOSYNTHESIS; CELL TYPE; CROSS REACTION; DRUG COST; DRUG EFFICACY; DRUG MECHANISM; GENE CASSETTE; GENE CONTROL; GENE INSERTION; GENE TECHNOLOGY; GENE TRANSFER; GENE VECTOR; HALF LIFE TIME; HEMATOLOGIC DISEASE; HEMOPHILIA; HUMAN; IMMUNOGENICITY; IMMUNOSTIMULATION; IN VITRO STUDY; IN VIVO STUDY; MOLECULAR LIBRARY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN SECRETION; REVIEW; RNA TRANSLATION; TARGET CELL; TARGET CELL DESTRUCTION; TISSUE TYPES; TRANSCRIPTION REGULATION;

EID: 11044224626     PISSN: 13550691     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2004.00996.x     Document Type: Review

References (41)

1. Mitterer A, Mundt W, Bjornson E, Dorner F. Development of an advanced category recombinant FVIII, anti-hemophilic factor (recombinant) plasma/albumin-free method (rAHF-PFM). J Thromb Haemost 2003; 1 1652.
2. Bohn RL, Avorn J, Glynn RJ, Choodnovskiy I, Haschemeyer R, Aledort LM. Prophylactic use of factor VIII: an economic evaluation. Thromb Haemost 1998; 79: 932-7.
3. Saenko EL, Ananyeva NM, Moayeri M, Ramezani A, Hawley RG. Development of improved factor VIII molecules and new gene transfer approaches for hemophilia A. Curr Gene Ther 2003; 3: 27-41.
4. Saenko EL, Ananyeva NM, Shima M, Hauser CA, Pipe SW. The future of recombinant coagulation factors. J Thromb Haemost 2003; 1: 922-30.
5. Pipe SW. Coagulation factors with improved properties for hemophilia gene therapy. Semin Thromb Hemost 2004; 30: 227-37.
6. Toole JJ, Pittman DD, Orr EC, Murtha P, Wasley LC, Kaufman RJ. A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity. Proc Natl Acad Sci USA 1986; 83: 5939-42.
7. Pittman DD, Alderman EM, Tomkinson KN, Wang JH, Giles AR, Kaufman RJ. Biochemical, immunological, and in vivo functional characterization of B-domain-deleted factor VIII. Blood 1993; 81 2925-35.
8. Sandberg H, Almstedt A, Brandt J et al. Structural and functional characteristics of the B-domain-deleted recombinant factor VIII protein, r-VIII SQ. Thromb Haemost 2001; 85: 93-100.
9. Courter SG, Bedrosian CL. Clinical evaluation of B-domain deleted recombinant factor VIII in previously treated patients. Semin Hematol 2001; 38: 44-51.
10. Courter SG, Bedrosian CL. Clinical evaluation of B-domain deleted recombinant factor VIII in previously untreated patients. Semin Hematol 2001; 38: 52-9.
11. Plantier JL, Rodriguez MH, Enjolras N, Attali O, Negrier C. A factor VIII minigene comprising the truncated intron I of factor IX highly improves the in vitro production of factor VIII. Thromb Haemost 2001; 86: 596-603.
12. Kaufman RJ, Pipe SW, Tagliavacca L, Swaroop M, Moussalli M. Biosynthesis, assembly and secretion of coagulation factor VIII. Blood Coagul Fibrinolysis 1997; 8 (Suppl. 2): S3-14.
13. Soukharev S, Hammond D, Ananyeva NM et al. Expression of factor VIII in recombinant and transgenic systems. Blood Cells Mol Dis 2002; 28: 234-48.
14. Pittman DD, Marquette KA, Kaufman RJ. Role of the B domain for factor VIII and factor V expression and function. Blood 1994; 84: 4214-25.
15. Marquette KA, Pittman DD, Kaufman RJ. A 110-amino acid region within the A1-domain of coagulation factor VIII inhibits secretion from mammalian cells. J Biol Chem 1995; 270: 10297-303.
16. Swaroop M, Moussalli M, Pipe SW, Kaufman RJ. Mutagenesis of a potential immunoglobulin-binding protein-binding site enhances secretion of coagulation factor VIII. J Biol Chem 1997; 272: 24121-4.
17. Cunningham MA, Pipe SW, Zhang B, Hauri H-P, Ginsburg D, Kaufman RJ. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. Thromb Haemost 2003; 1: 2360-7.
18. Miao HZ, Sirachainan N, Palmer L et al. Bioengineering of coagulation factor VIII for improved secretion. Blood 2004; 103: 3412-9.
19. Pipe SW, Saenko EL, Eickhorst AN, Kemball-Cook G, Kaufman RJ. Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa. Blood 2001; 97: 685-91.
20. Hakeos WH, Miao H, Sirachainan N et al. Hemophilia A mutations within the factor VIII, A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy. Thromb Haemost 2002; 88: 781-7.
21. Pipe SW, Kaufman RJ. Characterization of a genetically engineered inactivation-resistant coagulation factor VIIIa. Proc Natl Acad Sci USA 1997; 94: 11851-6.
22. Thornburg CD, Palmer L, Miao HZ, Deng X, Kaufman RJ, Pipe SW. Inactivation-resistant factor VIII provides superior hemostasis to wild-type factor VIII in a murine hemophilia A model without increased thrombogenicity. Blood 2003; 102: 299a.
23. Gale AJ, Pellequer JL, Griffin JH. A novel engineered interdomain disulfide bond stabilizes human blood coagulation factor VIlla. J Thromb Haemost 2003; 1: OC094.
24. Vilen BJ, Nakamura T, Cambier JC. Antigen-stimulated dissociation of BCR mIg from Ig-alpha/Ig-beta: implications for receptor desensitization. Immunity 1999; 10: 239-48.
25. Gilles JG, Desqueper B, Lenk H, Vermylen J, Saint-Remy JM. Neutralizing antiidiotypic antibodies to factor VIII inhibitors after desensitization in patients with hemophilia A. J Clin Invest 1996; 97: 1382-8.
26. van den Brink EN, Bril WS, Turenhout EA et al. Two classes of germline genes both derived from the V (H) 1 family direct the formation of human antibodies that recognize distinct antigenic sites in the C2 domain of factor VIII. Blood 2002; 99: 2828-34.
27. Dietrich G, Algiman M, Sultan Y, Nydegger UE, Kazatchkine MD. Origin of anti-idiotypic activity against anti-factor VIII autoantibodies in pools of normal human immunoglobulin G (IVIg). Blood 1992; 79 2946-51.
28. Jacquemin MG, Desqueper BG, Benhida A et al. Mechanism and kinetics of factor VIII inactivation: study with an IgG4 monoclonal antibody derived from a hemophilia A patient with inhibitor. Blood 1998; 92: 496-506.
29. Spiegel PC Jr, Jacquemin M, Saint-Remy JM, Stoddard BL, Pratt KP. Structure of a factor VIII, C2 domain-immunoglobulin G4kappa Fab complex: identification of an inhibitory antibody epitope on the surface of factor VIII. Blood 2001; 98: 13-9.
30. Gilles JG, Grailly SC, De Maeyer M, Jacquemin MG, VanderElst LP, Saint-Remy JM. In vivo neutralization of a C2 domain-specific human anti-factor VIII inhibitor by an anti-idiotypic antibody. Blood 2004; 103: 2617-23.
31. Villard S, Lacroix-Desmazes S, Kieber-Emmons T et al. Peptide decoys selected by phage display block in vitro and in vivo activity of a human anti-FVIII inhibitor. Blood 2003; 102: 949-52.
32. Burge C, Tuschi T, Sharp P. Splicing of precursors to mRNAs by the spicesome. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 1999.
33. Romani A, Guerra E, Trerotola M, Alberti S. Detection and analysis of spliced chimeric mRNAs in sequence databanks. Nucleic Acids Res 2003; 31: e17.
34. Bruzik JP, Maniatis T. Spliced leader RNAs from lower eukaryotes are trans-spliced in mammalian cells. Nature 1992; 360: 692-5.
35. Sullenger BA, Gilboa E. Emerging clinical applications of RNA. Nature 2002; 418: 252-8.
36. Puttaraju M, Jamison SF, Mansfield SG, Garcia-Blanco MA, Mitchell LG. Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol 1999; 17: 246-52.
37. Puttaraju M, DiPasquale J, Baker CC, Mitchell LG, Garcia-Blanco MA. Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing. Mol Ther 2001; 4: 105-14.
38. Garcia-Blanco MA. Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing. J Clin Invest 2003; 112: 474-80.
39. Mansfield SG, Kole J, Puttaraju M et al. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing. Gene Ther 2000; 7: 1885-95.
40. Chao H, Mansfield SG, Bartel RC et al. Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans splicing. Nat Med 2003; 9: 1015-9.
41. Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH Jr. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet 1995; 10: 119-21.