Hemofilia

Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.Texto completo  Resumo

Collins PW, Chalmers E, Hart DP, et al. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: 4th edition. Br J Haematol. 2013 Jan;160(2):153-70.Texto completo  Resumo

National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 280 - MASAC recommendations concerning products licensed for the treatment of hemophilia and selected disorders of the coagulation system. Aug 2023 [internet publication].Texto completo

National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). Guidelines for emergency department management of individuals with hemophilia and other bleeding disorders. Dec 2019 [internet publication].Texto completo

Tiede A, Collins P, Knoebl P, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020 Jul;105(7):1791-801.Texto completo  Resumo

1. Blanchette VS, Key NS, Ljung LR, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014 Nov;12(11):1935-9.Texto completo  Resumo

2. White GC 2nd, Rosendaal F, Aledort LM, et al. 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. 2001 Mar;85(3):560. Resumo

3. Knoebl P, Marco P, Baudo F, et al. Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). J Thromb Haemost. 2012 Apr;10(4):622-31.Texto completo  Resumo

4. Soucie JM, Miller CH, Dupervil B, et al. Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres. Haemophilia. 2020 May;26(3):487-93.Texto completo  Resumo

5. Centers for Disease Control and Prevention. Data & statistics on hemophilia. Sep 2020 [internet publication].Texto completo

6. World Federation of Hemophilia. Report on the annual global survey, 2017. Oct 2018 [internet publication].Texto completo

7. Pruthi RK. Hemophilia: a practical approach to genetic testing. Mayo Clin Proc. 2005 Nov;80(11):1485-99. Resumo

8. Collins PW, Hirsch S, Baglin TP, et al. Acquired hemophilia A in the United Kingdom: a 2-year national surveillance study by the United Kingdom Haemophilia Centre Doctors' Organisation. Blood. 2007 Mar 1;109(5):1870-7.Texto completo  Resumo

9. Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia. 2006 Jul;12 Suppl 3:82-9. Resumo

10. Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001 Jul;69(1):75-87.Texto completo  Resumo

11. Graw J, Brackmann HH, Oldenburg J, et al. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet. 2005 Jun;6(6):488-501. Resumo

12. Antonarakis SE, Kazazian HH, Tuddenham EG. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. Resumo

13. Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost. 2003 Feb;29(1):23-30. Resumo

14. Centers for Disease Control and Prevention. CDC hemophilia mutation project (CHAMP & CHBMP). Jul 2020 [internet publication].Texto completo

15. Tengborn L, Baudo F, Huth-Kühne A, et al. Pregnancy-associated acquired haemophilia A: results from the European Acquired Haemophilia (EACH2) registry. BJOG. 2012 Nov;119(12):1529-37. Resumo

16. Pinchover LB, Alsharif R, Bernal T. Acquired haemophilia a secondary to multiple myeloma: management of a patient with a mechanical mitral valve. BMJ Case Rep. 2020 Sep 6;13(9):e230798. Resumo

17. Dewarrat N, Gavillet M, Angelillo-Scherrer A, et al. Acquired haemophilia A in the postpartum and risk of relapse in subsequent pregnancies: a systematic literature review. Haemophilia. 2021 Mar;27(2):199-210. Resumo

18. Monroe DM, Hoffman M. What does it take to make the perfect clot? Arterioscler Thromb Vasc Biol. 2006 Jan;26(1):41-8.Texto completo  Resumo

19. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia. 2006 Dec;12 Suppl 6:15-22. Resumo

20. Oldenburg J, Schroder J, Brackmann HH, et al. Environmental and genetic factors influencing inhibitor development. Semin Hematol. 2004 Jan;41(1 Suppl 1):82-8. Resumo

21. Schwaab R, Brackmann HH, Meyer C, et al. Haemophilia A: mutation type determinates risk of inhibitor formation. Thromb Haemost. 1995 Dec;74(6):1402-6. Resumo

22. Astermark J, Berntorp E, White GC, et al; MIBS Study Group. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia. 2001 May;7(3):267-72. Resumo

23. Astermark J, Oldenburg J, Escobar M, et al; Malmo International Brother Study Group. The Malmo International Brother Study (MIBS): genetic defects and inhibitor development in siblings with severe hemophilia A. Haematologica. 2005 Jul;90(7):924-31.Texto completo  Resumo

24. Gill JC. The role of genetics in inhibitor formation. Thromb Haemost. 1999 Aug;82(2):500-4. Resumo

25. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 264 - MASAC recommendations regarding diagnosis and management of inherited bleeding disorders in girls and women with personal and family history of bleeding. Mar 2021 [internet publication].Texto completo

26. Shittu OB, Shokunbi WA. Circumcision in haemophiliacs: the Nigerian experience. Haemophilia. 2001 Sep;7(5):534-6. Resumo

27. Kulkarni R, Lusher JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol. 1999 Jul-Aug;21(4):289-95. Resumo

28. Tarantino MD, Gupta SL, Brusky RM. The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: analysis of the Nationwide Inpatient Sample database. Haemophilia. 2007 Jul;13(4):380-2. Resumo

29. Ljung RC. Intracranial haemorrhage in haemophilia A and B. Br J Haematol. 2008 Feb;140(4):378-84. Resumo

30. Nagel K, Pai MK, Paes BA, et al. Diagnosis and treatment of intracranial hemorrhage in children with hemophilia. Blood Coagul Fibrinolysis. 2013 Jan;24(1):23-7. Resumo

31. Konkle BA, Huston H, Fletcher SN, et al. Hemophilia A. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2000.Texto completo  Resumo

32. Konkle BA, Huston H, Fletcher SN, et al. Hemophilia B. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2000.Texto completo  Resumo

33. Soucie JM, Monahan PE, Kulkarni R, et al. The frequency of joint hemorrhages and procedures in nonsevere hemophilia A vs B. Blood Adv. 2018 Aug 28;2(16):2136-44.Texto completo  Resumo

34. Arnold WD, Hilgartner MW. Hemophilic arthropathy: current concepts of pathogenesis and management. J Bone Joint Surg Am. 1977 Apr;59(3):287-305. Resumo

35. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 273 - Recommendations on Genotyping for Persons with Hemophilia. Jul 2022 [internet publication].Texto completo

36. Warrier I. Antibodies to factor IX. Haematologica. 2000 Oct;85(10 Suppl):31-3. Resumo

37. Warrier I, Ewenstein BM, Koerper MA, et al. Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol. 1997 Jan-Feb;19(1):23-7. Resumo

38. Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.Texto completo  Resumo

39. Astermark J. Basic aspects of inhibitors to factors VIII and IX and the influence of non-genetic risk factors. Haemophilia. 2006 Dec;12 Suppl 6:8-13. Resumo

40. Lee CA, Lillicrap D, Astermark J. Inhibitor development in hemophiliacs: the roles of genetic versus environmental factors. Semin Thromb Hemost. 2006 Jun;32(2 suppl):10-4. Resumo

41. Scharrer I, Bray GL, Neutzling O. Incidence of inhibitors in haemophilia A patients: a review of recent studies of recombinant and plasma-derived factor VIII concentrates. Haemophilia. 1999 May;5(3):145-54. Resumo

42. Hay CR, Ludlam CA, Colvin BT, et al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. Thromb Haemost. 1998 Apr;79(4):762-6. Resumo

43. National Heart, Lung, and Blood Institute. The diagnosis, evaluation, and management of von Willebrand Disease. Dec 2007 [internet publication].Texto completo

44. Favaloro EJ. The utility of PFA-100 in the identification of von Willebrand disease: a concise review. Semin Thromb Hemost. 2006 Jul;32(5):537-45. Resumo

45. Cariappa R, Wilhite TR, Parvin CA, et al. Comparison of PFA-100 and bleeding time testing in pediatric patients with suspected hemorrhagic problems. J Pediatr Hematol Oncol. 2003 Jun;25(6):474-9. Resumo

46. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005 Aug;3(8):1773-82.Texto completo  Resumo

47. Astermark J, Donfield SM, Gomperts ED, et al. The polygenic nature of inhibitors in hemophilia A: results from the Hemophilia Inhibitor Genetics Study (HIGS) combined cohort. Blood. 2013 Feb 21;121(8):1446-54.Texto completo  Resumo

48. Lochan A, Macaulay S, Chen WC, et al. Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep;20(5):687-92. Resumo

49. Platokouki H, Fischer K, Gouw SC, et al. Vaccinations are not associated with inhibitor development in boys with severe haemophilia A. Haemophilia. 2018 Mar;24(2):283-90. Resumo

50. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 278 - MASAC recommendations on administration of vaccines to individuals with bleeding disorders. May 2023 [internet publication].Texto completo

51. Iorio A, Halimeh S, Holzhauer S, et al. 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. 2010 Jun;8(6):1256-65.Texto completo  Resumo

52. Gouw SC, van der Bom JG, Ljung R, et al; PedNet and RODIN Study Group. Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med. 2013 Jan 17;368(3):231-9.Texto completo  Resumo

53. Peyvandi F, Mannucci PM, Garagiola I, et al. A randomized trial of factor VIII and neutralizing antibodies in hemophilia A. N Engl J Med. 2016 May 26;374(21):2054-64.Texto completo  Resumo

54. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC recommendation on SIPPET (Survey of Inhibitors in Plasma-Product-Exposed Toddlers): results and recommendations for treatment products for previously untreated patients with hemophilia A. Jun 2016 [internet publication].Texto completo

55. Verbruggen B. Diagnosis and quantification of factor VIII inhibitors. Haemophilia. 2010 May;16(102):20-4.Texto completo  Resumo

56. Miller CH, Boylan B, Shapiro AD, et al. Limit of detection and threshold for positivity of the Centers for Disease Control and Prevention assay for factor VIII inhibitors. J Thromb Haemost. 2017 Oct;15(10):1971-6.Texto completo  Resumo

57. Miller CH, Rice AS, Boylan B, et al. Comparison of clot-based, chromogenic and fluorescence assays for measurement of factor VIII inhibitors in the US Hemophilia Inhibitor Research Study. J Thromb Haemost. 2013 Oct;11(7):1300-9.Texto completo  Resumo

58. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 265 - MASAC guidelines for pregnancy and perinatal management of women with inherited bleeding disorders and carriers of hemophilia A or B. Mar 2021 [internet publication].Texto completo

59. United Kingdom Haemophilia Centres Doctor's Organisation. Clinical genetics services for haemophilia. 2018 [internet publication].Texto completo

60. Park JS, Ryu KN. Hemophilic pseudotumor involving the musculoskeletal system: spectrum of radiologic findings. AJR Am J Roentgenol. 2004 Jul;183(1):55-61.Texto completo  Resumo

61. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 268 - recommendation on the use and management of emicizumab-kxwh (Hemlibra®) for hemophilia A with and without inhibitors. Apr 2022 [internet publication].Texto completo

62. James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300.Texto completo  Resumo

63. Collins PW, Chalmers E, Hart DP, et al. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: 4th edition. Br J Haematol. 2013 Jan;160(2):153-70.Texto completo  Resumo

64. Brown DL. Congenital bleeding disorders. Curr Probl Pediatr Adolesc Health Care. 2005 Feb;35(2):38-62. Resumo

65. Warrier I. Management of haemophilia B patients with inhibitors and anaphylaxis. Haemophilia. 1998 Jul;4(4):574-6.Texto completo  Resumo

66. Hay CR, Baglin TP, Collins PW, et al. The diagnosis and management of factor VIII and IX inhibitors: a guideline from the UK Haemophilia Centre Doctors' Organization (UKHCDO). Br J Haematol. 2000 Oct;111(1):78-90.Texto completo  Resumo

67. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 274 - Recommendation on administration of inhibitor bypassing agents in the home for patients with hemophilia and inhibitors. Sept 2022 [internet publication].Texto completo

68. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 267 - MASAC recommendation concerning prophylaxis for hemophilia A and B with and without inhibitors. Apr 2022 [internet publication].Texto completo

69. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 280 - MASAC recommendations concerning products licensed for the treatment of hemophilia and selected disorders of the coagulation system. Aug 2023 [internet publication].Texto completo

70. Negrier C, Goudemand J, Sultan Y, et al. Multicenter retrospective study on the utilization of FEIBA in France in patients with factor VIII and factor IX inhibitors. Thromb Haemost. 1997 Jun;77(6):1113-9. Resumo

71. Key NS, Aledort LM, Beardsley D, et al. Home treatment of mild to moderate bleeding episodes using recombinant factor VIIa (Novoseven) in haemophiliacs with inhibitors. Thromb Haemost. 1998 Dec;80(6):912-8. Resumo

72. Astermark J, Donfield SM, DiMichele DM, et al. A randomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study. Blood. 2007 Jan 15;109(2):546-51.Texto completo  Resumo

73. Ehrlich HJ, Henzl MJ, Gomperts ED. Safety of factor VIII inhibitor bypass activity (FEIBA): 10-year compilation of thrombotic adverse events. Haemophilia. 2002 Mar;8(2):83-90. Resumo

74. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). Guidelines for emergency department management of individuals with hemophilia and other bleeding disorders. Dec 2019 [internet publication].Texto completo

75. Tena-Sanabria ME, Rojas-Sato YF, Castañeda-Resendiz JC, et al. Treatment with radiosynoviorthesis in hemophilic patients with and without inhibitor. BMC Pediatr. 2020 Apr 20;20(1):173.Texto completo  Resumo

76. van Vulpen LFD, Thomas S, Keny SA, et al. Synovitis and synovectomy in haemophilia. Haemophilia. 2021 Feb;27 Suppl 3(suppl 3):96-102.Texto completo  Resumo

77. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 275 - MASAC Recommendations regarding physical therapy management for the care of persons with bleeding disorders. May 2023 [internet publication].Texto completo

78. Matino D, Makris M, Dwan K, et al. Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors. Cochrane Database Syst Rev. 2015 Dec 16;(12):CD004449.Texto completo  Resumo

79. Kruse-Jarres R, St-Louis J, Greist A, et al. Efficacy and safety of OBI-1, an antihaemophilic factor VIII (recombinant), porcine sequence, in subjects with acquired haemophilia A. Haemophilia. 2015 Mar;21(2):162-70. Resumo

80. Tiede A, Collins P, Knoebl P, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020 Jul;105(7):1791-801.Texto completo  Resumo

81. D'Arena G, Grandone E, Di Minno MN, et al. Acquired hemophilia a successfully treated with rituximab. Mediterr J Hematol Infect Dis. 2015 Mar 1;7(1):e2015024.Texto completo  Resumo

82. Collins P, Baudo F, Knoebl P, et al. Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). Blood. 2012 Jul 5;120(1):47-55.Texto completo  Resumo

83. Rayment R, Chalmers E, Forsyth K, et al. Guidelines on the use of prophylactic factor replacement for children and adults with haemophilia A and B. Br J Haematol. 2020 Sep;190(5):684-95.Texto completo  Resumo

84. Berntorp E, Astermark J, Bjorkman S, et al. Consensus perspectives on prophylactic therapy for haemophilia: summary statement. Haemophilia. 2003 May;9 Suppl 1:1-4. Resumo

85. Gringeri A, Lundin B, von Mackensen S, et al. A randomized clinical trial of prophylaxis in children with hemophilia A (the ESPRIT Study). J Thromb Haemost. 2011 Apr;9(4):700-10.Texto completo  Resumo

86. Nilsson IM, Berntorp E, Löfqvist T, et al. Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. J Intern Med. 1992 Jul;232(1):25-32. Resumo

87. Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med. 2007 Aug 9;357(6):535-44.Texto completo  Resumo

88. Poon M-C, Lee A. Individualized prophylaxis for optimizing hemophilia care: can we apply this to both developed and developing nations? Thrombosis J. 2016;14(suppl 1):32.Texto completo

89. Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015 Mar 26;125(13):2038-44.Texto completo  Resumo

90. Jiménez-Yuste V, Auerswald G, Benson G, et al. Achieving and maintaining an optimal trough level for prophylaxis in haemophilia: the past, the present and the future. Blood Transfus. 2014 Jul;12(3):314-9.Texto completo  Resumo

91. Mancuso ME, Santagostino E. Outcome of clinical trials with new extended half-life FVIII/IX concentrates. J Clin Med. 2017 Mar 28;6(4).Texto completo  Resumo

92. Mahlangu J, Oldenburg J, Paz-Priel I, et al. Emicizumab prophylaxis in patients who have hemophilia A without inhibitors. N Engl J Med. 2018 Aug 30;379(9):811-22.Texto completo  Resumo

93. Oldenburg J, Mahlangu JN, Kim B, et al. Emicizumab prophylaxis in hemophilia A with inhibitors. N Engl J Med. 2017 Aug 31;377(9):809-18.Texto completo  Resumo

94. Oldenburg J, Mahlangu JN, Bujan W, et al. The effect of emicizumab prophylaxis on health-related outcomes in persons with haemophilia A with inhibitors: HAVEN 1 Study. Haemophilia. 2019 Jan;25(1):33-44. Resumo

95. Nogami K, Shima M. New therapies using nonfactor products for patients with hemophilia and inhibitors. Blood. 2019 Jan 31;133(5):399-406. Resumo

96. DiMichele DM, Hoots WK, Pipe SW, et al. International workshop on immune tolerance induction: consensus recommendations. Haemophilia. 2007 Jul;13 Suppl 1:1-22.Texto completo  Resumo

97. Hay CR, DiMichele DM; International Immune Tolerance Study. The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood. 2012 Feb 9;119(6):1335-44.Texto completo  Resumo

98. Athale AH, Marcucci M, Iorio A. Immune tolerance induction for treating inhibitors in people with congenital haemophilia A or B. Cochrane Database Syst Rev. 2014 Apr 24;(4):CD010561.Texto completo  Resumo

99. Lim MY, Nielsen B, Lee K, et al. Rituximab as first-line treatment for the management of adult patients with non-severe hemophilia A and inhibitors. J Thromb Haemost. 2014 Jun;12(6):897-901.Texto completo  Resumo

100. Chai-Adisaksopha C, Nevitt SJ, Simpson ML, et al. Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors. Cochrane Database Syst Rev. 2017 Sep 25;(9):CD011441.Texto completo  Resumo

101. National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 267 - MASAC Recommendation concerning prophylaxis for hemophilia A and B with and without inhibitors. Apr 2022 [internet publication].Texto completo

102. US Food and Drug Administration. FDA drug safety communication: FDA restricts use of prescription codeine pain and cough medicines and tramadol pain medicines in children; recommends against use in breastfeeding women. Apr 2017 [internet publication].Texto completo

103. Medicines and Healthcare products Regulatory Agency. Codeine: restricted use as analgesic in children and adolescents after European safety review. Dec 2014 [internet publication].Texto completo

104. European Medicines Agency. Restrictions on use of codeine for pain relief in children - CMDh endorses PRAC recommendation. Jun 2013 [internet publication].Texto completo

105. ClinicalTrials.gov. HOPE-B: trial of AMT-061 in severe or moderately severe hemophilia B patients. Mar 2022 [internet publication].Texto completo

106. Pipe SW, Leebeek FWG, Recht M, et al. Gene therapy with etranacogene dezaparvovec for hemophilia B. N Engl J Med. 2023 Feb 23;388(8):706-18.Texto completo  Resumo

107. Nathwani AC, Reiss UM, Tuddenham EG, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med. 2014 Nov 20;371(21):1994-2004.Texto completo  Resumo

108. George LA, Sullivan SK, Giermasz A, et al. Hemophilia B gene therapy with a high-specific-activity factor IX variant. N Engl J Med. 2017 Dec 7;377(23):2215-27.Texto completo  Resumo

109. Samelson-Jones BJ, Sullivan SK, et al. Follow-up of more than 5 years in a cohort of patients with hemophilia B treated with fidanacogene elaparvovec adeno-associated virus gene therapy. Blood. 2021 Nov 23;138:3975.Texto completo

110. ClinicalTrials.gov. A study to evaluate the efficacy and safety of factor IX gene therapy with PF-06838435 in adult males with moderately severe to severe hemophilia B (BENEGENE-2). ClinicalTrials.gov Identifier: NCT03861273. Aug 2023 [internet publication].Texto completo

111. Ward NJ, Buckley SM, Waddington SN, et al. Codon optimization of human factor VIII cDNAs leads to high-level expression. Blood. 2011 Jan 20;117(3):798-807.Texto completo  Resumo

112. Bunting S, Zhang L, Xie L, et al. Gene therapy with BMN 270 results in therapeutic levels of FVIII in mice and primates and normalization of bleeding in hemophilic mice. Mol Ther. 2018 Feb 7;26(2):496-509.Texto completo  Resumo

113. Rangarajan S, Walsh L, Lester W, et al. AAV5-factor VIII gene transfer in severe hemophilia A. N Engl J Med. 2017 Dec 28;377(26):2519-30.Texto completo  Resumo

114. Pasi KJ, Rangarajan S, Mitchell N, et al. Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A. N Engl J Med. 2020 Jan 2;382(1):29-40.Texto completo  Resumo

115. Pasi K, Rangarajan S, Robinson TM, et al. Hemostatic response is maintained for up to 5 years following treatment with valoctocogene roxaparvovec, an AAV5-hFVIII-SQ gene therapy for severe hemophilia A [abstract]. Res Pract Thromb Haemost. 2021; 5 (2 suppl):OC 67.1.Texto completo

116. Arruda VR. Why is AAV FVIII gene therapy not approved by the US Food and Drug Administration yet? Blood Adv. 2021 Oct 26;5(20):4313.Texto completo  Resumo

117. Ozelo MC, Mahlangu J, Pasi KJ, et al. Valoctocogene roxaparvovec gene therapy for hemophilia A. N Engl J Med. 2022 Mar 17;386(11):1013-25. Resumo

118. ClinicalTrials.gov. Single-arm study to evaluate the efficacy and safety of valoctocogene roxaparvovec in hemophilia A patients (BMN 270-301) (BMN 270-301). ClinicalTrials.gov Identifier: NCT03370913. Dec 2022 [internet publication].Texto completo

119. George LA, Monahan PE, Eyster ME, et al. Multiyear factor VIII expression after AAV gene transfer for hemophilia A. N Engl J Med. 2021 Nov 18;385(21):1961-73.Texto completo  Resumo

120. ClinicalTrials.gov. Study to evaluate the efficacy and safety of PF-07055480/giroctocogene fitelparvovec gene therapy in moderately severe to severe hemophilia A adults (AFFINE). Apr 2020 [internet publication].Texto completo

121. Négrier C. Entering new areas in known fields: recombinant fusion protein linking recombinant factor VIIa with recombinant albumin (rVIIa-FP): advancing the journey. Thromb Res. 2016 May;141 Suppl 3:S9-12.Texto completo  Resumo

122. Bar-Ilan A, Livnat T, Hoffmann M, et al. In vitro characterization of MOD-5014, a novel long-acting carboxy-terminal peptide (CTP)-modified activated FVII. Haemophilia. 2018 May;24(3):477-86.Texto completo  Resumo

123. Konkle BA, Shapiro AD, Quon DV, et al. BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A. N Engl J Med. 2020 Sep 10;383(11):1018-27.Texto completo  Resumo

124. Nolan B, Mahlangu J, Pabinger I, et al. Recombinant factor VIII Fc fusion protein for the treatment of severe haemophilia A: final results from the ASPIRE extension study. Haemophilia. 2020 May;26(3):494-502.Texto completo  Resumo

125. Nolan B, Klukowska A, Shapiro A, et al. Final results of the PUPs B-LONG study: evaluating safety and efficacy of rFIXFc in previously untreated patients with hemophilia B. Blood Adv. 2021 Jul 13;5(13):2732-9.Texto completo  Resumo

126. Young G, Mahlangu J, Kulkarni R, et al. Recombinant factor VIII Fc fusion protein for the prevention and treatment of bleeding in children with severe hemophilia A. J Thromb Haemost. 2015 Jun;13(6):967-77.Texto completo  Resumo

127. Collins PW, Young G, Knobe K, et al. Recombinant long-acting glycoPEGylated factor IX in hemophilia B: a multinational randomized phase 3 trial. Blood. 2014 Dec 18;124(26):3880-6.Texto completo  Resumo

128. Sehgal A, Barros S, Ivanciu L, et al. An RNAi therapeutic targeting antithrombin to rebalance the coagulation system and promote hemostasis in hemophilia. Nat Med. 2015 May;21(5):492-7. Resumo

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