Advances in the treatment of inherited coagulation disorders

Haemophilia

Volumn 19, Issue 5, 2013, Pages 648-659

  Escobar, M A ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

Emerging hemostatic therapies; Hemophilia; Inherited bleeding disorders; Inherited factor deficiencies; New coagulation factor products

Indexed keywords

ARC 19499; AV 513; BAX 326; BAX 499; BAX 513; BAX 817; BAX 855; BAY 794980; BAY 818973; BAY 866150; BAY 949027; BIIB 029; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8 INHIBITOR; BLOOD CLOTTING FACTOR 9; CSL 627; CSL 654; CSL 689; FIBRINOGEN; FRESH FROZEN PLASMA; HUMAN CL RHFVIII; LIPOSOME; LONGSEVEN; MACROGOL; MONOCLONAL ANTIBODY; NN 1810; NN 1841; NN 7008; NN 7088; NN 7128; NN 7415; NN 7999; OBI 1; PF 05280602; PLACEBO; POLYSIALIC ACID; PROTHROMBIN; PROTHROMBIN COMPLEX; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT BLOOD CLOTTING FACTOR 7A ALBUMIN FUSION PROTEIN; RECOMBINANT BLOOD CLOTTING FACTOR 8; RECOMBINANT BLOOD CLOTTING FACTOR 9; RECOMBINANT BLOOD CLOTTING FACTOR 9 ALBUMIN FUSION PROTEIN; RECOMBINANT BLOOD CLOTTING FACTOR 9 FC ANTIBODY FRAGMENT FUSION PROTEIN; RECOMBINANT HUMAN ANTIHEMOPHILIC BLOOD CLOTTING FACTOR 8; RECOMBINANT VON WILLEBRAND FACTOR; TISSUE FACTOR PATHWAY INHIBITOR; TISSUE FACTOR PATHWAY MONOCLONAL ANTIBODY; UNCLASSIFIED DRUG; UNINDEXED DRUG;

ALLERGIC REACTION; AMINO ACID SUBSTITUTION; ANAPHYLAXIS; AUTOSOMAL RECESSIVE DISORDER; BIOENGINEERING; BIOTECHNOLOGY; BLEEDING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CONGENITAL BLOOD CLOTTING DISORDER; DRUG ACTIVITY; DRUG BIOAVAILABILITY; DRUG DISTRIBUTION; DRUG DOSE COMPARISON; DRUG DOSE ESCALATION; DRUG EFFICACY; DRUG ELIMINATION; DRUG FORMULATION; DRUG HALF LIFE; DRUG PURIFICATION; DRUG SAFETY; DRUG TOLERABILITY; GENE TRANSFER; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HUMAN; IMMUNOGENICITY; INFECTION RISK; MULTICENTER STUDY (TOPIC); PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROPHYLAXIS; PROTEIN MODIFICATION; RANDOMIZED CONTROLLED TRIAL (TOPIC); RECOMMENDED DRUG DOSE; REVIEW; SINGLE DRUG DOSE; VIRUS INACTIVATION; VIRUS INFECTION; VON WILLEBRAND DISEASE;

EMERGING HEMOSTATIC THERAPIES; HEMOPHILIA; INHERITED BLEEDING DISORDERS; INHERITED FACTOR DEFICIENCIES; NEW COAGULATION FACTOR PRODUCTS;

BLOOD COAGULATION; BLOOD COAGULATION DISORDERS; BLOOD COAGULATION FACTORS; CLINICAL TRIALS AS TOPIC; HEMOSTATICS; HUMANS;

EID: 84883054037     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12137     Document Type: Review

References (56)

1. Roberts HR, Key N, Escobar MA. Hemophilia A and hemophilia B. In: Beutler E ed. Williams Hematology, 8th edn. New York, NY: McGraw Hill, 2010.
2. Escobar MA, Roberts HR. Less common congenital disorders of hemostasis. In: Kitchens CS ed. Consultative Hemostasis and Thrombosis, 3rd edn. Philadelphia, PA: W.B. Saunders Company; 2013: in press.
3. Wong T, Recht M. Current options and new developments in the treatment of haemophilia. Drugs 2011; 71: 305-20.
4. Casademunt E, Martinelle K, Jernberg M et al. The first recombinant human coagulation factor VIII of human origin: human cell line and manufacturing characteristics. Eur J Haematol 2012; 89: 165-76.
5. Burke RL, Pachl C, Quiroga M et al. The functional domains of coagulation factor VIII:C. J Biol Chem 1986; 261: 12574-8.
6. Thim L, Vandahl B, Karlsson J et al. Purification and characterization of a new recombinant factor VIII (N8). Haemophilia 2010; 16: 349-59.
7. Christiansen ML, Balling KW, Persson E et al. Functional characteristics of N8, a new recombinant FVIII. Haemophilia 2010; 16: 878-87.
8. (R))-an open-label, sequential dosing pharmacokinetic study in patients with severe haemophilia A. Haemophilia 2011; 17: 854-9.
9. Rottensteiner H, Turacek PL, Pendu R et al. PEGylation or polysialylation reduces FVIII binding to LRP resulting in prolonged half-life in murine models. Blood (ASH Annual Meeting Abstracts) 2007; 110: 926A. Abstract 3150.
10. Spira J, Plyushch OP, Andreeva TA, Andreev Y. Prolonged bleeding-free period following prophylactic infusion of recombinant factor VIII reconstituted with pegylated liposomes. Blood 2006; 108: 3668-73.
11. Powell JS, Josephson NC, Quon D et al. Safety and prolonged activity of recombinant factor VIII Fc fusion protein in haemophilia A patients. Blood 2012; 119: 3031-7.
12. Dumont JA, Low SC, Peters RT, Bitonti AJ. Monomeric Fc fusions: impact on pharmacokinetic and biological activity of protein therapeutics. BioDrugs 2006; 20: 151-60.
13. Haaning J, McDonald TA, Zierz R, Murphy JE, Ivens IA. Preclinical models show reduced immunogenicity of pegylated recombinant human FVIII relative to unmodified FVIII. (Abstracts of the XXIII Congress of the International Society of Thrombosis and Haemostasis, Kyoto, Japan, July 23-29, 2011) J Thromb Haemost 2011; 9 (Suppl. 2): 372.
14. Ivens IA, Zierz R, Haaning J, McDonald T. BAY 94-9027, a PEGylated recombinant human FVIII, shows less immunogenicity compared to un-PEGylated recombinant FVIII. Blood (ASH Annual Meeting Abstracts) 2010; 116: 112.
15. Yatuv R, Dayan I, Carmel-Goren L et al. Enhancement of factor VIIa haemostatic efficacy by formulation with PEGylated liposomes. Haemophilia 2008; 14: 476-83.
16. Spira J, Plyushch OP, Andreeva TA, Khametova RN. Evaluation of liposomal dose in recombinant factor VIII reconstituted with pegylated liposomes for the treatment of patients with severe haemophilia A. Thromb Haemost 2008; 100: 429-34.
17. Spira J, Plyushch O, Andreeva T et al. Safety and efficacy of a long-acting liposomal formulation of plasma-derived factor VIII in haemophilia A patients. Br J Haematol 2012; 158: 149-52.
18. Ostergaard H, Bjelke JR, Hansen L et al. Prolonged half-life and preserved enzymatic properties of factor IX selectively PEGylated on native N-glycans in the activation peptide. Blood 2011; 118: 2333-41.
19. Negrier C, Knobe K, Tiede A, Giangrande P, Moss J. Enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX: a first human dose trial in patients with hemophilia B. Blood 2011; 118: 2695-701.
20. Chang J, Jin J, Lollar P et al. Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity. J Biol Chem 1998; 273: 12089-94.
21. Martinowitz U, Shapiro A, Quon DV et al. Pharmacokinetic properties of IB1001, an investigational recombinant factor IX, in patients with haemophilia B: repeat pharmacokinetic evaluation and sialylation analysis. Haemophilia 2012; 18: 881-7.
22. Peters RT, Low SC, Kamphaus GD et al. Prolonged activity of factor IX as a monomeric Fc fusion protein. Blood 2010; 115: 2057-64.
23. Shapiro AD, Ragni MV, Valentino LA et al. Recombinant factor IX-Fc fusion protein (rFIXFc) demonstrates safety and prolonged activity in a phase 1/2a study in hemophilia B patients. Blood 2012; 119: 666-72.
24. Metzner HJ, Weimer T, Kronthaler U, Lang W, Schulte S. Genetic fusion to albumin improves the pharmacokinetic properties of factor IX. Thromb Haemost 2009; 102: 634-44.
25. Santagostino E, Negrier C, Klamroth R et al. Results of a phase I international clinical trial of recombinant fusion protein linking coagulation factor IX with albumin (rFIX-FP) in patients with hemophilia B (PROLONG-9FP). Hamostaseologie 2012; 32: A24.
26. Hopfner KP, Brandstetter H, Karcher A et al. Converting blood coagulation factor IXa into factor Xa: dramatic increase in amidolytic activity identifies important active site determinants. EMBO J 1997; 16: 6626-35.
27. Hartmann R, Dockal M, Kammlander W et al. Factor IX mutants with enhanced catalytic activity. J Thromb Haemost 2009; 7: 1656-62.
28. Verma D, Moghimi B, LoDuca PA et al. Oral delivery of bioencapsulated coagulation factor IX prevents inhibitor formation and fatal anaphylaxis in hemophilia B mice. Proc Natl Acad Sci USA 2010; 107: 7101-6.
29. Walsh CE, Batt KM. Hemophilia clinical gene therapy-brief review. Transl Res 2013; 161: 307-12.
30. High KA. The gene therapy journey for hemophilia: are we there yet? Blood 2012; 120: 4482-7.
31. Abshire T, Kenet G. Recombinant factor VIIa: review of efficacy, dosing regimens and safety in patients with congenital and acquired factor VIII or IX inhibitors. J Thromb Haemost 2004; 2: 899-909.
32. Lindley CM, Sawyer WT, Macik BG et al. Pharmacokinetics and pharmacodynamics of recombinant factor VIIa. Clin Pharmacol Ther 1994; 55: 638-48.
33. Hoots WK, Ebbesen LS, Konkle BA et al. Secondary prophylaxis with recombinant activated factor VII improves health-related quality of life of haemophilia patients with inhibitors. Haemophilia 2008; 14: 466-75.
34. Konkle BA, Ebbesen LS, Erhardtsen E et al. Randomized, prospective clinical trial of recombinant factor VIIa for secondary prophylaxis in hemophilia patients with inhibitors. J Thromb Haemost 2007; 5: 1904-13.
35. Moss J, Rosholm A, Lauren A. Safety and pharmacokinetics of a glycoPEGylated recombinant activated factor VII derivative: a randomized first human dose trial in healthy subjects. J Thromb Haemost 2011; 9: 1368-74.
36. Weimer T, Wormsbacher W, Kronthaler U, Lang W, Liebing U, Schulte S. Prolonged in-vivo half-life of factor VIIa by fusion to albumin. Thromb Haemost 2008; 99: 659-67.
37. Moss J, Scharling B, Ezban M, Moller Sorensen T. Evaluation of the safety and pharmacokinetics of a fast-acting recombinant FVIIa analogue, NN1731, in healthy male subjects. J Thromb Haemost 2009; 7: 299-305.
38. Persson E. Variants of recombinant factor VIIa with increased intrinsic activity. Semin Hematol 2004; 41: 89-92.
39. Persson E, Nielsen LS, Olsen OH. Substitution of aspartic acid for methionine-306 in factor VIIa abolishes the allosteric linkage between the active site and the binding interface with tissue factor. Biochemistry 2001; 40: 3251-6.
40. Toso R, Bernardi F, Tidd T et al. Factor VII mutant V154G models a zymogen-like form of factor VIIa. Biochem J 2003; 369: 563-71.
41. Moss J, Stenmo C, Jimenez-Yuste V, Bottcher S, Fernandez I. Long-acting glycopegylated recombinant activated factor VII (LA-rFVIIa) is safe and shows a prolonged FVIIa half-life after single and multiple administrations in haemophilia A and B patients, making it suitable for development as prophylactic treatment of patients with haemophilia and inhibitors. Haemophilia (Abstracts of the XXIXth International Congress of the World Federation of Hemophilia, Buenos Aires, Argentina, July 10-14) 2010; 16(Suppl. 4): 31.
42. Tiede A, Friedrich U, Stenmo C et al. Safety and pharmacokinetics of subcutaneously administered recombinant activated factor VII (rFVIIa). J Thromb Haemost 2011; 9: 1191-9.
43. Spira J, Plyushch O, Zozulya N et al. Safety, pharmacokinetics and efficacy of factor VIIa formulated with PEGylated liposomes in haemophilia A patients with inhibitors to factor VIII-an open label, exploratory, cross-over, phase I/II study. Haemophilia 2010; 16: 910-8.
44. Schulte S. Use of albumin fusion technology to prolong the half-life of recombinant factor VIIa. Thromb Res 2008; 122 (Suppl 4): S14-9.
45. de Paula EV, Kavakli K, Mahlangu J et al. Recombinant factor VIIa analog (vatreptacog alfa [activated]) for treatment of joint bleeds in hemophilia patients with inhibitors: a randomized controlled trial. J Thromb Haemost 2012; 10: 81-9.
46. http://www.zacks.com/stock/news/84210/pipeline-setback-at-novo-nordisk. Accessed March 28, 2013.
47. Mahlangu JN, Coetzee MJ, Laffan M et al. Phase I, randomized, double-blind, placebo-controlled, single-dose escalation study of the rFVIIa variant BAY 86-6150 in hemophilia. J Thromb Haemost 2012; 10: 773-80.
48. Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 2009; 35: 349-55.
49. Lloyd J, John E, Feldman P. In-vitro immunogenicity studies of a new high purity factor X concentrate. Haemophilia (Abstracts of the XXIXth International Congress of the World Federation of Hemophilia, Buenos Aires, Argentina, July 10-14) 2010; 16 (Suppl. 4): 37.
50. Lovejoy AE, Reynolds TC, Visich JE et al. Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency. Blood 2006; 108: 57-62.
51. Reynolds TC, Butine MD, Visich JE et al. Safety, pharmacokinetics, and immunogenicity of single-dose rFXIII administration to healthy volunteers. J Thromb Haemost 2005; 3: 922-8.
52. Visich JE, Zuckerman LA, Butine MD et al. Safety and pharmacokinetics of recombinant factor XIII in healthy volunteers: a randomized, placebo-controlled, double-blind, multi-dose study. Thromb Haemost 2005; 94: 802-7.
53. Inbal A, Oldenburg J, Carcao M, Rosholm A, Tehranchi R, Nugent DJ. Recombinant factor XIII, safe and novel treatment for congenital factor XIII deficiency. Blood (ASH Annual Meeting Abstracts) 2010; 116: 20.
54. Gorczyca ME, Nair SC, Jilma B et al. Inhibition of tissue factor pathway inhibitor by the aptamer BAX499 improves clotting of hemophilic blood and plasma. J Thromb Haemost 2012; 10: 1581-90.
55. Liu T, Scallan CD, Broze GJ Jr, Patarroyo-White S, Pierce GF, Johnson KW. Improved coagulation in bleeding disorders by Non-Anticoagulant Sulfated Polysaccharides (NASP). Thromb Haemost 2006; 95: 68-76.
56. Fogarty PF. Biological rationale for new drugs in the bleeding disorders pipeline. Hematology Am Soc Hematol Educ Program 2011; 2011: 397-404.