New treatments in hemophilia: Insights for the clinician

Therapeutic Advances in Hematology

Volumn 3, Issue 3, 2012, Pages 165-175

  Knobe, Karin ^a   Berntorp, Erik ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

coagulation; factor IX; factor VIII; hemophilia; treatment

Indexed keywords

ALBUMIN; APTAMER; ATALUREN; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; FC RECEPTOR; IMMUNOGLOBULIN FC FRAGMENT; LIPOSOME; MACROGOL; NONANTICOAGULANT SULFATED POLYSACCHARIDE; POLYSIALIC ACID; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT BLOOD CLOTTING FACTOR 8; RECOMBINANT BLOOD CLOTTING FACTOR 9; TISSUE FACTOR PATHWAY INHIBITOR; UNCLASSIFIED DRUG; VIRUS VECTOR;

ARTICLE; BLEEDING; CLINICAL TRIAL (TOPIC); DRUG FORMULATION; DRUG HALF LIFE; GENE THERAPY; GENETIC ENGINEERING; GENETIC TRANSFECTION; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HUMAN; NONHUMAN; PEGYLATION; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; STOP CODON; VIRAL GENE DELIVERY SYSTEM;

EID: 84993736172     PISSN: 20406207     EISSN: 20406215     Source Type: Journal    
DOI: 10.1177/2040620712440007     Document Type: Article

References (80)

1. Ahnstrom J. Berntorp E. Lindvall K. Bjorkman S. (2004) A 6-year follow-up of dosing, coagulation factor levels and bleedings in relation to joint status in the prophylactic treatment of haemophilia. Haemophilia 10: 689–697.
2. Aiuti A. Cattaneo F. Galimberti S. Benninghoff U. Cassani B. Callegaro L. et al. (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 360: 447–458.
3. Aledort L.M. Haschmeyer R.H. Pettersson H. (1994) A longitudinal study of orthopaedic outcomes for severe factor-VIII-deficient haemophiliacs. The Orthopaedic Outcome Study Group. J Intern Med 236: 391–399.
4. Allen G.A. Persson E. Campbell R.A. Ezban M. Hedner U. Wolberg A.S. (2007) A variant of recombinant factor VIIa with enhanced procoagulant and antifibrinolytic activities in an in vitro model of hemophilia. Arterioscler Thromb Vasc Biol 27: 683–689.
5. Astermark J. (2006) Overview of inhibitors. Semin Hematol 43(2 Suppl. 4): S3–S7.
6. Astermark J. Morado M. Rocino A. van den Berg H.M. von Depka M. Gringeri A. et al. (2006) Current European practice in immune tolerance induction therapy in patients with haemophilia and inhibitors. Haemophilia 12: 363–371.
7. Astermark J. Petrini P. Tengborn L. Schulman S. Ljung R. Berntorp E. (1999) Primary prophylaxis in severe haemophilia should be started at an early age but can be individualized. Br J Haematol 105: 1109–1113.
8. Astermark J. Rocino A. von Depka M. van Den Berg H.M. Gringeri A. Mantovani L.G. et al. (2007) Current use of by-passing agents in Europe in the management of acute bleeds in patients with haemophilia and inhibitors. Haemophilia 13: 38–45.
9. Calvez T. Laurian Y. (2006) Protective effect of prophylaxis on inhibitor development in children with haemophilia A: more convincing studies are required. Br J Haematol 132: 798–800; author reply 800–791.
10. Carlsson M. Berntorp E. Bjorkman S. Lindvall K. (1993) Pharmacokinetic dosing in prophylactic treatment of hemophilia A. Eur J Haematol 51: 247–252.
11. Carlsson M. Bjorkman S. Berntorp E. (1998) Multidose pharmacokinetics of factor IX: implications for dosing in prophylaxis. Haemophilia 4 (2): 83–88.
12. Chambost H. Ljung R. (2005) Changing pattern of care of boys with haemophilia in western European centres. Haemophilia 11 (2): 92–99.
13. Chang J. Jin J. Lollar P. Bode W. Brandstetter H. Hamaguchi N. et al. (1998) Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity. J Biol Chem 273: 12089–12094.
14. Chang J.Y. Monroe D.M. Stafford D.W. Brinkhous K.M. Roberts H.R. (1997) Replacing the first epidermal growth factor-like domain of factor IX with that of factor VII enhances activity in vitro and in canine hemophilia B. J Clin Invest 100: 886–892.
15. Dasgupta S. Repesse Y. Bayry J. Navarrete A.M. Wootla B. Delignat S. et al. (2007) VWF protects FVIII from endocytosis by dendritic cells and subsequent presentation to immune effectors. Blood 109: 610–612.
16. Escuriola Ettingshausen C. Halimeh S. Kurnik K. Schobess R. Wermes C. Junker R. et al. (2001) Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors. Thromb Haemost 85: 218–220.
17. Feldman B.M. Pai M. Rivard G.E. Israels S. Poon M.C. Demers C. et al. (2006) Tailored prophylaxis in severe hemophilia A: interim results from the first 5 years of the Canadian Hemophilia Primary Prophylaxis Study. J Thromb Haemost 4: 1228–1236.
18. Fried M.W. Shiffman M.L. Reddy K.R. Smith C. Marinos G. Goncales F.L. Jr. et al. (2002) Peginterferon alfa-2a plus ribavirin for chronic hepatitis C virus infection. N Engl J Med 347: 975–982.
19. Funk M. Schmidt H. Escuriola-Ettingshausen C. Pons S. Dzinaj T. Weimer C. et al. (1998) Radiological and orthopedic score in pediatric hemophilic patients with early and late prophylaxis. Ann Hematol 77: 171–174.
20. Geraghty S. Dunkley T. Harrington C. Lindvall K. Maahs J. Sek J. (2006) Practice patterns in haemophilia A therapy – global progress towards optimal care. Haemophilia 12 (1): 75–81.
21. Goudemand J. Rothschild C. Demiguel V. Vinciguerrat C. Lambert T. Chambost H. et al. (2006) Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A. Blood 107: 46–51.
22. Gouw S.C. van der Bom J.G. Auerswald G. Ettinghausen C.E. Tedgard U. van den Berg H.M. (2007 a) Recombinant versus plasma-derived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study. Blood 109: 4693–4697.
23. Gouw S.C. van der Bom J.G. Marijke van den Berg H. (2007 b) Treatment-related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANAL cohort study. Blood 109: 4648–4654.
24. Hirawat S. Welch E.M. Elfring G.L. Northcutt V.J. Paushkin S. Hwang S. et al. (2007) Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47: 430–444.
25. Holmberg H.L. Lauritzen B. Tranholm M. Ezban M. (2009) Faster onset of effect and greater efficacy of NN 1731 compared with rFVIIa, aPCC and FVIII in tail bleeding in hemophilic mice. J Thromb Haemost 7: 1517–1522.
26. Iorio A. Halimeh S. Holzhauer S. Goldenberg N. Marchesini E. Marcucci M. et al. (2010) Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review. J Thromb Haemost 8: 1256–1265.
27. Keating G.M. Curran M.P. (2003) Peginterferon-alpha-2a (40kD) plus ribavirin: a review of its use in the management of chronic hepatitis C. Drugs 63: 701–730.
28. Kreuz W. Escuriola-Ettingshausen C. Funk M. Schmidt H. Kornhuber B. (1998) When should prophylactic treatment in patients with haemophilia A and B start?–The German experience. Haemophilia 4: 413–417.
29. Kuo T.T. Baker K. Yoshida M. Qiao S.W. Aveson V.G. Lencer W.I. et al. (2010) Neonatal Fc receptor: from immunity to therapeutics. J Clin Immunol 30: 777–789.
30. Larsson S.A. (1984) Hemophilia in Sweden. Studies on demography of hemophilia and surgery in hemophilia and von Willebrand's disease. Acta Med Scand Suppl 684: 1–72.
31. Liu T. Scallan C.D. Broze G.J. Jr Patarroyo-White S. Pierce G.F. Johnson K.W. (2006) Improved coagulation in bleeding disorders by Non-Anticoagulant Sulfated Polysaccharides (NASP). Thromb Haemost 95: 68–76.
32. Ljung R. (2009) Prophylactic therapy in haemophilia. Blood Rev 23: 267–274.
33. Ljung R. Petrini P. Lindgren A.K. Berntorp E. (1992) Implantable central venous catheter facilitates prophylactic treatment in children with haemophilia. Acta Paediatr 81: 918–920.
34. Ljung R.C. (2002) Aspects of haemophilia prophylaxis in Sweden. Haemophilia 8(Suppl. 2): 34–37.
35. Makris M. Calizzani G. Fischer K. Gilman E.A. Hay C.R. Lassila R. et al. (2011) EUHASS: The European Haemophilia Safety Surveillance system. Thromb Res 127(Suppl. 2): S22–S25.
36. Mannucci P.M. (2008) Desmopressin: an historical introduction. Haemophilia 14(Suppl. 1): 1–4.
37. Mannucci P.M. Gringeri A. Peyvandi F. Santagostino E. (2007) Factor VIII products and inhibitor development: the SIPPET study (survey of inhibitors in plasma-product exposed toddlers). Haemophilia 13(Suppl. 5): 65–68.
38. Mei B. Pan C. Jiang H. Tjandra H. Strauss J. Chen Y. et al. (2010) Rational design of a fully active, long-acting PEGylated factor VIII for hemophilia A treatment. Blood 116: 270–279.
39. Moss J. Rosholm A. Lauren A. (2011) Safety and pharmacokinetics of a glycoPEGylated recombinant activated factor VII derivative: a randomized first human dose trial in healthy subjects. J Thromb Haemost 9: 1368–1374.
40. Moss J. Scharling B. Ezban M. Moller Sorensen T. (2009) Evaluation of the safety and pharmacokinetics of a fast-acting recombinant FVIIa analogue, NN1731, in healthy male subjects. J Thromb Haemost 7: 299–305.
41. Nathwani A.C. Tuddenham E.G. Rangarajan S. Rosales C. McIntosh J. Linch D.C. et al. (2011) Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365: 2357–2365.
42. Negrier C. Knobe K. Tiede A. Giangrande P. Moss J. (2011) Enhanced pharmacokinetic properties of a glycoPEGylated recombinant factor IX: a first human dose trial in patients with hemophilia B. Blood 118: 2695–2701.
43. Nilsson I.M. Berntorp E. Lofqvist T. Pettersson H. (1992) Twenty-five years’ experience of prophylactic treatment in severe haemophilia A and B. J Intern Med 232: 25–32.
44. Oldenburg J. El-Maarri O. Schwaab R. (2002) Inhibitor development in correlation to factor VIII genotypes. Haemophilia 8(Suppl. 2): 23–29.
45. Ostergaard H. Bjelke J.R. Hansen L. Petersen L.C. Pedersen A.A. Elm T. et al. (2011) Prolonged half-life and preserved enzymatic properties of factor IX selectively PEGylated on native N-glycans in the activation peptide. Blood 118: 2333–2341.
46. Paleyanda R.K. Velander W.H. Lee T.K. Scandella D.H. Gwazdauskas F.C. Knight J.W. et al. (1997) Transgenic pigs produce functional human factor VIII in milk. Nat Biotechnol 15: 971–975.
47. Peters R.T. Low S.C. Kamphaus G.D. Dumont J.A. Amari J.V. Lu Q. et al. (2010) Prolonged activity of factor IX as a monomeric Fc fusion protein. Blood 115: 2057–2064.
48. Petrini P. Chambost H. Nemes L. (2004) Towards the goal of prophylaxis: experience and treatment strategies from Sweden, France and Hungary. Haemophilia 10(Suppl. 4): 94–96.
49. Petrini P. Lindvall N. Egberg N. Blomback M. (1991) Prophylaxis with factor concentrates in preventing hemophilic arthropathy. Am J Pediatr Hematol Oncol 13: 280–287.
50. Pierce G.F. Lillicrap D. Pipe S.W. Vandendriessche T. (2007) Gene therapy, bioengineered clotting factors and novel technologies for hemophilia treatment. J Thromb Haemost 5: 901–906.
51. Pipe S.W. Miao H. Butler S.P. Calcaterra J. Velander W.H. (2011) Functional factor VIII made with von Willebrand factor at high levels in transgenic milk. J Thromb Haemost 9: 2235–2242.
52. Pisal D.S. Kosloski M.P. Balu-Iyer S.V. (2010) Delivery of therapeutic proteins. J Pharm Sci 99: 2557–2575.
53. Prasad S. Lillicrap D. Labelle A. Knappe S. Keller T. Burnett E. et al. (2008) Efficacy and safety of a new-class hemostatic drug candidate, AV513, in dogs with hemophilia A. Blood 111: 672–679.
54. Qadura M. Waters B. Burnett E. Chegeni R. Bradshaw S. Hough C. et al. (2009) Recombinant and plasma-derived factor VIII products induce distinct splenic cytokine microenvironments in hemophilia A mice. Blood 114: 871–880.
55. Rivard G.E. Lillicrap D. Poon M.C. Demers C. Lepine M. St-Louis J. et al. (2005) Can activated recombinant factor VII be used to postpone the exposure of infants to factor VIII until after 2 years of age? Haemophilia 11: 335–339.
56. Rodriguez N.I. Hoots W.K. (2010) Advances in hemophilia: experimental aspects and therapy. Hematol Oncol Clin North Am 24: 181–198.
57. Santagostino E. Mancuso M.E. Rocino A. Mancuso G. Mazzucconi M.G. Tagliaferri A. et al. (2005) Environmental risk factors for inhibitor development in children with haemophilia A: a case-control study. Br J Haematol 130: 422–427.
58. Scharrer I. Bray G.L. Neutzling O. (1999) Incidence of inhibitors in haemophilia A patients–a review of recent studies of recombinant and plasma-derived factor VIII concentrates. Haemophilia 5: 145–154.
59. Shapiro A.D. Ragni M.V. Valentino L.A. Key N.S. Josephson N.C. Powell J.S. et al. (2011) Recombinant factor IX-Fc fusion protein (rFIXFc) demonstrates safety and prolonged activity in a phase 1/2a study in hemophilia B patients. Blood, in press.
60. Smith P.S. Teutsch S.M. Shaffer P.A. Rolka H. Evatt B. (1996) Episodic versus prophylactic infusions for hemophilia A: a cost-effectiveness analysis. J Pediatr 129: 424–431.
61. Sorensen B. Persson E. Ingerslev J. (2007) Factor VIIa analogue (V158D/E296V/M298Q-FVIIa) normalises clot formation in whole blood from patients with severe haemophilia A. Br J Haematol 137: 158–165.
62. Soucie J.M. Nuss R. Evatt B. Abdelhak A. Cowan L. Hill H. et al. (2000) Mortality among males with hemophilia: relations with source of medical care. The Hemophilia Surveillance System Project Investigators. Blood 96: 437–442.
63. Spira J. Plyushch O. Zozulya N. Yatuv R. Dayan I. Bleicher A. et al. (2010) 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 16: 910–918.
64. Spira J. Plyushch O.P. Andreeva T.A. Andreev Y. (2006) Prolonged bleeding-free period following prophylactic infusion of recombinant factor VIII reconstituted with pegylated liposomes. Blood 108: 3668–3673.
65. Spira J. Plyushch O.P. Andreeva T.A. Khametova R.N. (2008) Evaluation of liposomal dose in recombinant factor VIII reconstituted with pegylated liposomes for the treatment of patients with severe haemophilia A. Thromb Haemost 100: 429–434.
66. Szucs T.D. Offner A. Kroner B. Giangrande P. Berntorp E. Schramm W. (1998) Resource utilisation in haemophiliacs treated in Europe: results from the European Study on Socioeconomic Aspects of Haemophilia Care. The European Socioeconomic Study Group. Haemophilia 4: 498–501.
67. van Cott K.E. Butler S.P. Russell C.G. Subramanian A. Lubon H. Gwazdauskas F.C. et al. (1999) Transgenic pigs as bioreactors: a comparison of gamma-carboxylation of glutamic acid in recombinant human protein C and factor IX by the mammary gland. Genet Anal 15: 155–160.
68. van Creveld S. (1969) Prophylaxis of joint hemorrhages in hemophilia. Acta Haematol 41: 206–214.
69. van Creveld S. (1971 a) Prophylaxis in haemophilia. Lancet 1: 450.
70. van Creveld S. (1971 b) Prophylaxis of joint hemorrhages in hemophilia. Acta Haematol 45: 120–127.
71. van den Berg H.M. Dunn A. Fischer K. Blanchette V.S. (2006) Prevention and treatment of musculoskeletal disease in the haemophilia population: role of prophylaxis and synovectomy. Haemophilia 12(Suppl. 3): 159–168.
72. van den Berg H.M. Fischer K. Mauser-Bunschoten E.P. Beek F.J. Roosendaal G. van der Bom J.G. et al. (2001) Long-term outcome of individualized prophylactic treatment of children with severe haemophilia. Br J Haematol 112: 561–565.
73. van Dijk K. Fischer K. van der Bom J.G. Grobbee D.E. van den Berg H.M. (2005) Variability in clinical phenotype of severe haemophilia: the role of the first joint bleed. Haemophilia 11: 438–443.
74. Verma D. Moghimi B. Lo Duca P.A. Singh H.D. Hoffman B.E. Herzog R.W. et al. (2010) Oral delivery of bioencapsulated coagulation factor IX prevents inhibitor formation and fatal anaphylaxis in hemophilia B mice. Proc Natl Acad Sci U S A 107: 7101–7106.
75. Webster R. Didier E. Harris P. Siegel N. Stadler J. Tilbury L. et al. (2007) PEGylated proteins: evaluation of their safety in the absence of definitive metabolism studies. Drug Metab Dispos 35: 9–16.
76. Weimer T. Wormsbacher W. Kronthaler U. Lang W. Liebing U. Schulte S. (2008) Prolonged in-vivo half-life of factor VIIa by fusion to albumin. Thromb Haemost 99: 659–667.
77. Welch E.M. Barton E.R. Zhuo J. Tomizawa Y. Friesen W.J. Trifillis P. et al. (2007) PTC 124 targets genetic disorders caused by nonsense mutations. Nature 447: 87–91.
78. White G.C. II Rosendaal F. Aledort L.M. Lusher J.M. Rothschild C. Ingerslev J. (2001) Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 85: 560.
79. White R.R. Sullenger B.A. Rusconi C.P. (2000) Developing aptamers into therapeutics. J Clin Invest 106: 929–934.
80. Yee T.T. Beeton K. Griffioen A. Harrington C. Miners A. Lee C.A. et al. (2002) Experience of prophylaxis treatment in children with severe haemophilia. Haemophilia 8 (2): 76–82.