Prevention of spontaneous bleeding in dogs with haemophilia A and haemophilia B

Haemophilia

Volumn 16, Issue SUPPL. 3, 2010, Pages 19-23

  Nichols, T C ^a   Raymer, R A ^a   Franck, H W G ^a   Merricks, E P ^a   Bellinger, D A ^a   DeFriess, N ^a   Margaritis, P ^b   Arruda, V R ^b   Kay, M A ^c   High, K A ^b,d  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^c STANFORD UNIVERSITY   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Dogs; Haemophilia A; Haemophilia B; Spontaneous bleeding

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8A; BLOOD CLOTTING FACTOR 9; COMPLEMENTARY DNA; PARVOVIRUS VECTOR; RECOMBINANT BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

BINDING SITE; BLEEDING; CYTOMEGALOVIRUS; DNA SEQUENCE; DOG; DRUG EFFICACY; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GENOTYPE; HEMOPHILIA A; HEMOPHILIA B; INTRON; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CLEAVAGE; REVIEW; TREATMENT RESPONSE; VIRAL GENE DELIVERY SYSTEM;

ANIMALS; DOGS; FACTOR IX; GENE THERAPY; HEMOPHILIA A; HEMOPHILIA B; HEMORRHAGE;

EID: 77953503104     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02255.x     Document Type: Review

References (32)

1. Russell KE, Olsen EHN, Raymer RA. Reduced bleeding events with subcutaneous administration of recombinant human factor IX in immune-tolerant hemophilia B dogs. Blood 2003, 102:4393-8.
2. Margaritis P, Roy E, Aljamali MN. Successful treatment of canine hemophilia by continuous expression of canine FVIIa. Blood 2009, 113:3682-9.
3. Lozier JN, Dutra A, Pak E. The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. Proc Natl Acad Sci USA 2002, 99:12991-6.
4. Cameron C, Notley C, Hoyle S. The canine factor VIII cDNA and 5′ flanking sequence. Thromb Haemost 1998, 79:317-22.
5. Miao HZ, Sirachainan N, Palmer L. Bioengineering of coagulation factor VIII for improved secretion. Blood 2004, 103:3412-9.
6. Sabatino DE, Furlan Freguia C, Toso R. Recombinant canine B-domain deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model. Blood 2009, 114:4562-5.
7. Hough C, Kamisue S, Cameron C. Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: similarities with the intron 22 inversion mutation in human hemophilia. Thromb Haemost 2002, 87:659-65.
8. Antonarakis SE. Molecular genetics of coagulation factor VIII gene and hemophilia A. Thromb Haemost 1995, 74:322-8.
9. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993, 5:236-41.
10. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993, 2:1773-8.
11. Evans JP, Watzke HH, Ware JL, Stafford DW, High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood 1989, 74:207-12.
12. Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA. Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci USA 1989, 86:10095-9.
13. Gu W, Brooks M, Catalfamo J, Ray J, Ray K. Two distinct mutations cause severe hemophilia B in two unrelated canine pedigrees. Thromb Haemost 1999, 82:1270-5.
14. Mauser AE, Whitlark J, Whitney KM, Lothrop CD. A deletion mutation causes hemophilia B in Lhasa Apso dogs. Blood 1996, 88:3451-5.
15. Brooks MB, Gu W, Ray K. Complete deletion of factor IX gene and inhibition of factor IX activity in a labrador retriever with hemophilia B. J Am Vet Med Assoc 1997, 211:1418-21.
16. Xu L, Nichols TC, Sarkar R, McCorquodale S, Bellinger DA, Ponder KP. Absence of a desmopressin response after therapeutic expression of factor VIII in hemophilia A dogs with liver-directed neonatal gene therapy. Proc Natl Acad Sci USA 2005, 102:6080-5.
17. Herzog RW, Yang EY, Couto LB. Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-assocated viral vector. Nat Med 1999, 5:56-63.
18. Snyder RO, Miao C, Meuse L. Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors. Nat Med 1999, 5:64-70.
19. Mount JD, Herzog RW, Tillson DM. Sustained phenotypic correction of hemophilia B dogs with a factor IX null mutation by liver-directed gene therapy. Blood 2002, 99:2670-6.
20. Arruda VR, Schuettrumpf J, Herzog RW. 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, 103:85-92.
21. Arruda VR, Stedman HH, Nichols TC. 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, 105:3458-64.
22. Brinkhous KM, Penick GD, Langdell RD, Wagner RH, Graham JB. Physiologic basis of transfusion therapy in hemophilia. Arch Pathol 1956, 61:6-10.
23. Wagner RH, Langdell RD, Richardson BA, Farrell RA, Brinkhous KM. Antihemophilic factor (AHF): plasma levels after administration of AHF preparations to hemophilic dogs. Proc Soc Exp Biol Med 1957, 96:152-5.
24. Roberts HR, Penick GD, Brinkhous KM. Intensive plasma therapy in the hemophilias. JAMA 1964, 190:546-8.
25. Brinkhous KM, Hedner U, Garris JB, Diness V, Read MS. Effect of recombinant factor VIIa on the hemostatic defect in dogs with hemophilia A, hemophilia B, and von Willebrand disease. Proc Natl Acad Sci USA 1989, 86:1382-6.
26. Brinkhous KM, Shanbrom E, Roberts HR, Webster WP, Fekete L, Wagner RH. A new high-potency glycine-precipitated antihemophilic factor (AHF) concentrate. Treatment of classical hemophilia and hemophilia with inhibitors. JAMA 1968, 205:613-7.
27. Brinkhous KM, Sandberg H, Garris JB. Purified human factor VIII procoagulant protein: comparative hemostatic response after infusions into hemophilic and von Willebrand disease dogs. Proc Natl Acad Sci USA 1985, 82:8752-6.
28. Brinkhous KM, Sandberg H, Widlund L. Preclinical pharmacology of albumin-free B-domain deleted recombinant factor VIII. Semin Thromb Hemost 2002, 28:269-72.
29. Brinkhous KM, Sigman JL, Read MS. Recombinant human factor IX: replacement therapy, prophylaxis and pharmacokinetics in canine hemophilia B. Blood 1996, 88:2603-10.
30. Nichols TC, Dillow AM, Franck HWG. Protein replacement therapy and gene transfer in canine models of hemophilia A, hemophilia B, von Willebrand disease, and factor VII deficiency. ILAR J 2009, 50:144-67.
31. MASAC Treatment Recommendations. http://www.hemophilia.org/research/masac/masac_all.htm, Available at Accessed January 6, 2010
32. A History of Blood Coagulation 2001, Nichols WLBowie EJW. eds, Rochester, MN, Mayo Foundation for Medical Education and Research