Advanced search
Publication Cover
Expert Opinion on Emerging Drugs Volume 10, 2005 - Issue 1
Submit an article Journal homepage
56
Views
16
CrossRef citations to date
0
Altmetric
Review

Therapy for haemophilia: recent advances and goals for the future

Guy Young Children’s Hospital of Orange County, 455 S. Main Street, Orange, CA 92868, USA. [email protected]
&
Louis Aledort Children’s Hospital of Orange County, 455 S. Main Street, Orange, CA 92868, USA. [email protected]
Pages 173-184 | Published online: 22 Apr 2005

Bibliography

  • DIMICHELE D, NEUFELD EJ: Hemophilia: a new approach to an old disease. HematoL OncoL Clin. North Am. (1998) 12(0:1315–1344.
  • ••An excellent review of the history ofhaemophilia treatment.
  • MANNUCCI PM, TUDDENHAM EG: The hemophiliac — from royal genes to therapy. N EngL J. Med. (2001) 344(23):1773–1779.
  • SRI VASTAVA A: Dose response in haemophilia — optimization of factor replacement therapy. Br. J. HaematoL doi: (2004)127(1):12125.
  • ROSNER F: Hemophilia in the Talmud and Rabbinic writings. Ann. Intern. Med. (1969) 70(4):833–837.
  • TEITEL JM, BARNARD D, ISRAELS S, LILLICRAP D, POON MC, SEK J: Home management of haemophilia. Haemophiha (2004) 10(2):118–133.
  • MANNUCCI PM: AIDS, hepatitis, and hemophilia in the 1980s: memoirs from an insider. J. Thromb. Haemost. (2003) 1(10):2065–2069.
  • ••This perspective reviews the devastatinginfectious complications and should be read by all haemophilia treaters, especially those who are too young to have been in practice at the time.
  • TARANTINO MD, ALEDORT LM: Advances in clotting factor treatment for congenital hemorrhagic disorders. Chin. Adv. HematoL OncoL (2004) 2(0:363–368.
  • MANNUCCI PM: Hemophilia: treatment options in the twenty-first century. Thromb. Haemost. (2003) 1(7):1349–55.
  • NILSSON IM, BERNTORP E, LOFQVIST T, PETTERSSON H: Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. J. Intern. Med. (1992) 232(1):25–32.
  • •The quintessential report on the benefits of prophylaxis.
  • LOFQVIST T, NILSSON IM, BERNTORP E, PETTERSSON H: Haemophilia prophylaxis in young patients — a long-term follow-up. J. Intern. Med. (1997) 241:395–400.
  • SHAPIRO AD: Why is primary prophylaxis underutilized in the United States. Haemophilia (2003) 9(0:670–672.
  • LJUNG R: Central venous lines in haemophilia. Haemophilia (2003) 9\(Supp1.1):88–92.
  • DARBY SC, KEELING DM, SPOONER RJ et al.: The incidence of Factor VIII and Factor IX inhibitors in the hemophilia population of the UK and their effect on subsequent mortality, 1977-1999. J. Thromb. Haemost. (2004) 2(7):1047–1054.
  • •An excellent discussion of inhibitors.
  • GRINGERI A, MANTOVANI LG, SCALONE L, MANNUCCI PM; COCIS STUDY GROUP: Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS study group. Blood (2003) 102(7):2358–2363.
  • FARRUGIA A: Evolving perspectives in product safety for haemophilia. Haemophilia (2002) 8(3):236–243.
  • HUBBARD AR, SANDS D, SANDBERG E, SEITZ R, BARROWCLIFFE TW: A multi-centre collaborative study on the potency of ReFacto. Thromb. Haemost. (2003) 90(6):1088–1093.
  • AZZI A. DE SANTIS R, MORFINI M et al.: TT virus contaminates first-generation Factor VIII concentrates. Blood (2001) 98(8):2571–2573.
  • KREIL TR, ZIMMERMAN K, PABLE S, SCHWARZ HP, DORNER F: TT virus does not contaminate first-generation recombinant products. Blood (2002) 100(6):2271–2272 [letter].
  • JOSEPHSON CD, ABSHIRE T: The new albumin-free recombinant Factor VIII concentrates for treatment of hemophilia: Do they represent an actual incremental improvement? Clin. Adv. HematoL OncoL (2004) 2(6):441–446.
  • BLANCHETTE VS, RIVARD GE, ISRAELS SJ, ROBINSON S, BABYN PS, MCLIMONT MJ: Musculoskeletal results from the Canadian hemophilia dose-escalation prophylaxis trial. Blood (2003) 102\(Suppl. 11):52a.
  • NEGRIER C: Gene therapy for hemophilia? Yes. J. Thromb. Haemost. (2004) 2(8):1234–1235.
  • NATHWANI AC, DAVIDOFF AM, TUDDENHAM EG: Prospects for gene therapy of haemophilia. Haemophilia (2004) 10(4):309–318.
  • •A review of the history and current status of gene therapy.
  • ROTH DA, TAWA NE, O'BRIEN JM, TRECO DA, SELDEN RF, FACTOR VIII TRANSKARYOTIC THERAPY STUDY GROUP: Nonviral transfer of the gene encoding coagulation Factor VIII in patients with severe hemophilia A. N EngL J. Med. (2001) 344(23):1735–1742.
  • POWELL JS, RAGNI MV WHITE GC, et al.: Phase I trial of EVIII gene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion. Blood (2003) 102(6):2038–2045.
  • 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.
  • 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.
  • RAPER SE, CHIRMULE N, LEE FS et al.: Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. MoL Genet. Metab. (2003) 80(1-2):148–158.
  • HACEIN-BEY-ABINA S, VON KALLE C, SCHMIDT M et al.: LM02-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. LM02-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science (2003) 302(5644):415–419.
  • ARRUDA VR, SCHUETTRUMPF J, COUTO L et al.: Assessing the risk of inadvertent germline transmission of vector DNA following intravascular delivery of rAAV vector. 44th annual meeting of the American Society of Hematology. Philadelphia, PA (2002).
  • BRACKMANN HH, EGBRING R, FERSTER A et al.: Pharmacokinetics and tolerability of Factor XIII concentrates prepared from human placenta or plasma: a crossover randomised study. Thromb. Haemost. (1995) 74(2):622–625.
  • KAUFMAN RJ, PIPE SW: Can we improve on nature? 'Super molecules' of Factor VIII. Haemophilia (1998) 4(4):370–379.
  • SAENKO EL, ANANYEVA NM, SHIMA M, HAUSER CAE, PIPE SW: The future of recombinant coagulation factors. Thromb. Hemost. (2003) 1(5):922–930.
  • •A discussion of the bioengineering of Factor VIII and IX.
  • BARROW RT, HEALEY JF, GAILANI D, SCANDELLA D, LOLLAR P: Reduction of the antigenicity of Factor VIII toward complex inhibitory antibody plasmas using multiply-substituted hybrid human/porcine Factor VIII molecules. Blood (2000) 95(2):564–568.
  • ENJOLRAS N, RODRIGUEZ MH, PLANTIER JL, MAURICE M, ATTALI O, NEGRIER C: The three in-frame ATG, clustered in the translation initiation sequence of human FIX gene. Thromb. Haemost. (1999) 82(4):1264–1269.
  • 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(2):596–603.
  • 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(20):1289–1294.
  • BOVENSCHEN N, HERZ J, GRIMBERGEN JM et al: Elevated plasma Factor VIII in a mouse model of low-density lipoprotein receptor-related protein deficiency. Blood (2003) 101(10):3933–3939.
  • KHRENOV A, SARAFANOV A, ANANYEVA N et al.: Molecular basis for different ability of low-density and high-density lipoproteins to support activity of the intrinsic Xase complex. Thromb. Res. (2002) 105(1):87–93.
  • KYRLE PA. MINAR E, HIRSCHL M et al.: High plasma levels of Factor VIII and the risk of recurrent venous thromboembolism. N EngL J. Med. (2000) 343(7):457–462.
  • PIPE SW: Coagulation factors with improved properties for hemophilia gene therapy. Semin. Thromb. Hemost. (2004) 30(2):227–237.
  • •A good review of advances in bioengineering of Factors VIII and IX.
  • 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(10:2925–2935.
  • PALEYANDA RK, VELANDER WH, LEE TK, SCANDELLA DH, GWAZDAUSKAS FC, KNIGHT JW: Transgenic pigs produce functional human Factor VIII in milk. Nat. Biotechnol. (1997) 15(10):971–975.
  • SOUKHAREV S, HAMMOND D, ANANYEVA NM et al.: Expression of Factor VIII in recombinant and transgenic systems. Blood Cells Mol. Dis. (2002) 28(2):234–248.
  • DIMICHELE D: Inhibitors: resolving diagnostic and therapeutic dilemmas. Haemophilia. (2002) 8(3):280–287.
  • •A review of the issues regarding the management of inhibitor patients.
  • VAN DER BOM JG, MAUSER-DEN BERG HM: Age at first treatment and immune tolerance to Factor VIII in severe hemophilia. Thromb. Haemost. (2003) 89(3):475–479.
  • ROSSI G, SARKAR J, SCANDELLA D: Long-term induction of immune tolerance after blockade of CD40-CD40L interaction in a mouse model of hemophilia A. Blood (2001) 97(9):2750–2757.
  • QIAN J, COLLINS M, SHARPE AH, HOYER LW: Prevention and treatment of Factor VIII inhibitors in murine hemophilia A. Blood (2000) 95(4):1324–1329.
  • MADOIWA S, YAMAUCHI T, HAKAMATA Y et al.: Induction of immune tolerance by neonatal intravenous
  • SHARATHKUMAR A, LILLICRAP D, BLANCHETTE VS et al.: Intensive A. J. Thromb. Haemost. (2003) 1(6):1228–1236.
  • EWENSTEIN BM, HOOTS WK, LUSHER JM et al.: Inhibition of CD40 ligand (CD154) in the treatment of Factor
  • MAKRIS M: Systematic review of the management of patients with haemophilia
  • AUERSWALD G, SPRANGER T, BRACKMANN HH: The role of plasma-derived Factor VIII/von Willebrand factor concentrates in the treatment of hemophilia A patients. Haematologica (2003) 88(6):EREP05.
  • MATHIAS M, KHAIR K, HANN I, LIESNER R: Rituximab in the treatment of alloimmune Factor VIII and IX antibodies in two children with severe haemophilia. Br. J. Haematol (2004) 125(3):366–368.
  • REDING MT, WU H, KRAMPF M et al.: CD4* T cells specific for Factor VIII as a target for specific suppression of inhibitor production. Adv. Exp. Med. Biol. (2001) 489:119–134.
  • 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(3):949–952.
  • HILGARTNER M, ALEDORT L, ANDES A, GILL J: Efficacy and safety of vapor-heated anti-inhibitor coagulant complex in hemophilia patients. FEIBA Study Group. Transfusion (1990) 30(7):626–630.
  • •Important article discussing the use of FEIBA.
  • KEY NS, ALEDORT LM, BEARDSLEY D et al.: Home treatment of mild to moderate bleeding episodes using recombinant Factor Vila (Novoseven) in haemophiliacs with inhibitors. Thromb. Haemost. (1998) 80(0:912–918.
  • •Key article on the home treatment of rEVIIa from which the indicated dose is based.
  • SEREMETIS S: Dose optimization of recombinant Factor Vila in the treatment of acute bleeding in haemophilia-associated inhibitors. Blood Coagul Fibrinolysis (2003) 14\(Suppl. 0:529–530.
  • KENET G, LUBETSKY A, LUBOSHITZ J, MARTINOWITZ U: A new approach to treatment of bleeding episodes in young hemophilia patients: a single bolus megadose of recombinant activated Factor VII (NovoSeven). j Thromb. Haemost. (2003) 1(3):450–455.
  • HEDNER U: Dosing with recombinant Factor Vila based on current evidence. Semin. Hematol (2004) 41(1 Suppl. 1):35–39.
  • KEY NS, CHRISTIE B, HENDERSON N, NELSESTUEN GL: Possible synergy between recombinant Factor Vila and prothrombin complex concentrate in hemophilia therapy. Thromb. Haemost. (2002) 88(1):60–65.
  • SCHNEIDERMAN J, NUGENT DJ, YOUNG G: Sequential therapy with activated prothrombin complex concentrate and recombinant Factor Vila in patients with severe haemophilia and inhibitors. Haemophilia. (2004) 10(4):347–351.
  • HILGARTNER MW MAKIPERNAA A, DIMICHELE DM: Long-term FEIBA prophylaxis does not prevent progression of existing joint disease. Haemophilia (2003) 9(3):261–268.
  • SAXON BR, SHANKS D, JORY CB, WILLIAMS V: Effective prophylaxis with daily recombinant Factor Vila (rFVIIa-Novoseven) in a child with high titre inhibitors and a target joint. Thromb. Haemost. (2001) 86(4):1126–1127.
  • YOUNG G, MCDANIEL M, NUGENT DJ: Treatment with recombinant Factor VIIa for prophylaxis of bleeding and reduction of inhibitor titer in hemophiliacs with inhibitors. Haemophilia (2004) 10(Suppl. 3):65.
  • PERSSON E, KJALKE M, OLSEN OH: Rational design of coagulation Factor VIIa variants with substantially increased intrinsic activity. Proc. Nail. Acad. Sci. USA (2001) 98(2013583–13588.
  • TOMOKIYO K, NAKATOMI Y, ARAKI T et al.: A novel therapeutic approach combining human plasma-derived Factors VIIa and X for haemophiliacs with inhibitors: evidence of a higher thrombin generation rate in vitro and more sustained haemostatic activity in vivo than obtained with Factor Vila alone. Vox. Sang. (2003) 85(4):290–299.
  • PARKER ET, CRADDOCK HN, BARROW RT, LOLLAR P: Comparative immunogenicity of recombinant B domain-deleted porcine Factor VIII and Hyate C in hemophilia A mice presensitized to human Factor VIII. j Thromb. Haemost. (2004) 2(4):605–611.
  • BRAGADOTTIR G, ONUNDARSON PT: Factor-sparing use of the COX-2 inhibitor rofecoxib in haemophilic arthropathy. Haemophilia (2002) 8(0:832–833.
  • RATTRAY BN, NUGENT DJ, YOUNG G: The use of rofecoxib (Vioxx) in the treatment of hemophilia. Blood (2004) 104(11 Supp1.1).
  • SRAMEK A, KRIEK M, ROSENDAAL FR: Decreased mortality of ischaemic heart disease among carriers of haemophilia. Lancet (2003) 362:351–354.
  • ROSENDAAL FR, VAREKAMP I, SMIT C et al.: Mortality and causes of death in Dutch haemophiliacs, 1973-86. Br. J. Haematol (1989) 71:71–76.
  • SIEGEL HJ, LUCK JV JR, SIEGEL ME, QUINONES C: Phosphate-32 colloid radiosynovectomy in hemophilia: outcome of 125 procedures. Clin. Orthop. (2001) 392(11):409–417.
  • GIANGRANDE PL. Gene therapy for hemophilia? No. J. Thromb. Haemost. (2004) 2(8):1236–1237. Websites

Websites

  • MEDICAL AND SCIENTIFIC ADVISORY COUNCIL OF THE NATIONAL HEMOPHILIA FOUNDATION: Recommendation 106 regarding the use of recombinant clotting factor replacement therapies. (2000) http//:www.hemophilia.org/research/masac/ masac106.htm
  • http//:www.merck.corn/newsroom/ press_releases/product/ 192004_0930.html

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.