ライフサイエンスコーパス: haemophilia

1 s are vital for people with diseases such as haemophilia.

2 the risk of HHV-8 infection in patients with haemophilia.

3 ial to improve the management of people with haemophilia.

4 rmative in the management of all people with haemophilia.

5 Only three sera from patients with haemophilia (1/84) or from intravenous drug users (2/63)

6 2431) than for sickle cell disease (1359) or haemophilia (1193).

7 ed 12 years and older with severe congenital haemophilia A (<1% of normal FVIII activity in blood) or

8 Congenital haemophilia A (factor VIII deficiency) and B (factor IX

9 5% CI 0.07-0.29; p<0.0001) for patients with haemophilia A and 0.21 (0.10-0.45; p<0.0001) for patient

10 er trial restart on Sept 30, 2020 (nine with haemophilia A and 12 with haemophilia B in group 1; 18 w

11 nd 12 with haemophilia B in group 1; 18 with haemophilia A and 24 with haemophilia B in group 2; nine

12 e with haemophilia A in group 3; and 46 with haemophilia A and 30 with haemophilia B in group 4).

13 Haemophilia A and B are congenital X-linked bleeding dis

14 Haemophilia A and B are hereditary haemorrhagic disorder

15 Haemophilia A and B are rare congenital, recessive X-lin

16 Highly effective treatment of haemophilia A and B is primarily available to 15% of the

17 I of the treatment ratio was less than 1 for haemophilia A and for haemophilia B.

18 raumatic bleeding episodes for patients with haemophilia A and haemophilia B separately, assessed at

19 ophylaxis shows haemostatic efficacy in both haemophilia A and haemophilia B, and therefore has the p

20 central diabetes insipidus (DI), bedwetting, haemophilia A and von Willebrand disease.

21 ss to and aid understanding of the causes of haemophilia A at the molecular level we have constructed

22 to, and aid understanding of, the causes of haemophilia A at the molecular level; previously, the fi

23 a A, replacing previous text editions of the Haemophilia A Database published in Nucleic Acids Resear

24 nce of severe bleeding episodes in dogs with haemophilia A for at least 2.5 years after transplantati

25 24 with haemophilia B in group 2; nine with haemophilia A in group 3; and 46 with haemophilia A and

26 and rescues the severe bleeding phenotype in haemophilia A mice on transplantation.

27 Since 1996 the HAMSTeRS (Haemophilia A Mutation, Search, Test and Resource Site)

28 l antibody, is approved to treat people with haemophilia A of all ages with and without coagulation f

29 In participants with haemophilia A or B without inhibitors, fitusiran prophyl

30 ticipants aged at least 12 years with severe haemophilia A or B without inhibitors, who had previousl

31 cy and safety of concizumab in patients with haemophilia A or B without inhibitors.

32 xis and was considered safe in patients with haemophilia A or B without inhibitors.

33 eds and >10 bleeds) and by haemophilia type (haemophilia A or B).

34 ng adults aged 12 years or older with severe haemophilia A or haemophilia B with inhibitors previousl

35 nnualised bleeding rate in participants with haemophilia A or haemophilia B with inhibitors, with two

36 fety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors.

37 ow haemostatic efficacy in participants with haemophilia A or haemophilia B with inhibitors; therefor

38 , subcutaneous prophylaxis for patients with haemophilia A or haemophilia B with or without inhibitor

39 mbin to rebalance haemostasis in people with haemophilia A or haemophilia B, irrespective of inhibito

40 al of rebalancing haemostasis in people with haemophilia A or haemophilia B, regardless of inhibitor

41 12 years or older, and had congenital severe haemophilia A or moderate or severe haemophilia B withou

42 l haemorrhage in a patient from group 4 with haemophilia A with a long-standing history of hypertensi

43 A (<1% of normal FVIII activity in blood) or haemophilia A with FVIII inhibitors, undergoing treatmen

44 izumab prophylaxis in people with non-severe haemophilia A without factor VIII (FVIII) inhibitors.

45 activity >=1%-<=5%) or mild (FVIII >5%-<40%) haemophilia A without FVIII inhibitors requiring prophyl

46 file of emicizumab in people with non-severe haemophilia A without FVIII inhibitors who warrant proph

47 Although deficiencies of factor VIII (haemophilia A) and factor IX (haemophilia B) are well re

48 from deficiencies in clotting factors VIII (haemophilia A) and IX (haemophilia B).

49 of factor VIII and the molecular genetics of haemophilia A, a real time update of the biostatistics o

50 common inversions responsible for 1/5 of all haemophilia A, affects the first rather than intron 22 o

51 every 4 weeks in adults and adolescents with haemophilia A, regardless of FVIII inhibitor status.

52 access to data on the molecular pathology of haemophilia A, replacing previous text editions of the H

53 (ie, inhibitors), which is most frequent in haemophilia A.

54 ng-term control of bleeding in patients with haemophilia A.

55 ucible treatment to maintain haemostasis for haemophilia A.

56 t of secondary complications for people with haemophilia A.

57 ctor VIII that lead to bleeding disorders in haemophilia A.

58 use of prophylaxis in people with non-severe haemophilia A.

59 , and factor X deficiency (one), carriage of haemophilia-A gene (one), and platelet dysfunction (one)

60 In those with severe haemophilia, age-standardised all-cause mortality was st

61 as been the cornerstone of the management of haemophilia, aiming to reduce the mortality and morbidit

62 or sickle cell disease, cystic fibrosis, and haemophilia, alongside seven comparative indicators: the

63 tracted from the plasma of 112 patients with haemophilia and 57 with hypogammaglobulinaemia, as well

64 achieved for other rare diseases, including haemophilia and Duchenne muscular dystrophy.

65 For those with haemophilia and HIV-1 infection, the corresponding risks

66 y, spinal muscular atrophy, cystic fibrosis, haemophilia and sickle cell disease.

67 ity, and substantial benefits to people with haemophilia and society in general, the WFH HAP is an ex

68 The haemophilias are inherited disorders in which one of the

69 usly treated boys younger than 12 years with haemophilia B (</=2 IU/dL [</=2%] endogenous coagulation

70 mutations in these domains in patients with haemophilia B (defective in coagulation factor IX) and t

71 ndrome (MFS), CADASIL, protein S deficiency, haemophilia B and familial hypercholesterolaemia, respec

72 This demonstrates the potential of treating haemophilia B by gene therapy at the natural site of fac

73 The eighth edition of the haemophilia B database lists in an easily accessible for

74 The seventh edition of the haemophilia B database lists in easily accessible form a

75 The sixth edition of the haemophilia B database lists in easily accessible form a

76 0, 2020 (nine with haemophilia A and 12 with haemophilia B in group 1; 18 with haemophilia A and 24 w

77 n group 1; 18 with haemophilia A and 24 with haemophilia B in group 2; nine with haemophilia A in gro

78 oup 3; and 46 with haemophilia A and 30 with haemophilia B in group 4).

79 te amelioration of the bleeding diathesis in haemophilia B mice.

80 ly cure the coagulation defect in the canine haemophilia B model; however, an immune response directe

81 ns and/or deletions of <30 bp) identified in haemophilia B patients.

82 ns and/or deletions of <30 bp) identified in haemophilia B patients.

83 ns and/or deletions of <30 bp) identified in haemophilia B patients.

84 episodes for patients with haemophilia A and haemophilia B separately, assessed at the confirmatory a

85 offers the possibility of converting severe haemophilia B to a milder form of the disease.

86 arvovec, the first gene therapy approved for haemophilia B treatment, was shown to be superior to tre

87 years or older with severe haemophilia A or haemophilia B with inhibitors previously treated with on

88 g rate in participants with haemophilia A or haemophilia B with inhibitors, with two-thirds of partic

89 prophylaxis in people with haemophilia A or haemophilia B with inhibitors.

90 ficacy in participants with haemophilia A or haemophilia B with inhibitors; therefore, the therapeuti

91 ophylaxis for patients with haemophilia A or haemophilia B with or without inhibitors.

92 l severe haemophilia A or moderate or severe haemophilia B without inhibitors and with documented tre

93 utaneous treatment options for patients with haemophilia B without inhibitors.

94 f factor VIII (haemophilia A) and factor IX (haemophilia B) are well recognised, von Willebrand's dis

95 lotting factors VIII (haemophilia A) and IX (haemophilia B).

96 trials to treat hereditary diseases such as haemophilia B, and have been approved for treatment of l

97 prolonged clotting times in a mouse model of haemophilia B, and remained persistent after induced liv

98 emostatic efficacy in both haemophilia A and haemophilia B, and therefore has the potential to be tra

99 males aged 18 years or older with inherited haemophilia B, classified as severe (plasma factor IX ac

100 haemostasis in people with haemophilia A or haemophilia B, irrespective of inhibitor status.

101 Haemophilia B, or factor IX deficiency, is a X-linked re

102 haemostasis in people with haemophilia A or haemophilia B, regardless of inhibitor status.

103 io was less than 1 for haemophilia A and for haemophilia B.

104 0.21 (0.10-0.45; p<0.0001) for patients with haemophilia B.

105 and important results have been obtained in haemophilia B.

106 tranacogene dezaparvovec in individuals with haemophilia B.

107 expressing human F.IX in adults with severe haemophilia B.

108 ls that were therapeutic in a mouse model of haemophilia B.

109 factor IX cDNA into the livers of dogs with haemophilia B.

110 or patients with severe or moderately severe haemophilia B.

111 c patients younger than 12 years with severe haemophilia B.

112 n low bleeding rates in children with severe haemophilia B.

113 a paradigm shift, and today individuals with haemophilia can look forward to a virtually normal life

114 me, some governments increased investment in haemophilia care, including independent purchases of sma

115 Despite improvements in haemophilia care, the availability of clotting factor co

116 tients registered at the Royal Free Hospital Haemophilia Centre, London, UK.

117 ystic Fibrosis Registry, and the UK National Haemophilia Database); the number of registered clinical

118 Information was extracted from the National Haemophilia Database.

119 Finally, gene therapy for both types of haemophilia has progressed remarkably and could soon bec

120 neglected compared with cystic fibrosis and haemophilia in relation to research and funding in the U

121 or sickle cell disease, cystic fibrosis, and haemophilia in the UK.

122 Management strategies for haemophilia include on-demand treatment for bleeding epi

123 ession to AIDS and death in individuals with haemophilia infected with HIV-1 and hepatitis C virus.

124 However, we must not forget that haemophilia is a worldwide disorder that requires signif

125 , 0.0-2.0] joint bleeds/y) and joint health (Haemophilia Joint Health Score >10 of 144 points in 46%

126 We studied 1216 HIV-1-infected haemophilia patients in the UK who were registered with

127 rom liver disease and liver cancer in the UK haemophilia population in individuals both infected and

128 84 [172-196]), and two times higher than for haemophilia (pound 315 [226-404]).

129 %) had factor IX activity more than 40% (non-haemophilia range), with mean factor IX activity stable

130 the UK who were registered with the National Haemophilia Register and were alive on Jan 1, 1985.

131 per 53 and 55 people for cystic fibrosis and haemophilia, respectively.

132 Society, the Cystic Fibrosis Trust, and the Haemophilia Society); characteristics of disease registr

133 with 5-30% of the normal factor IX have mild haemophilia that may not be recognized until adulthood o

134 , randomised crossover trial, was done in 13 haemophilia treatment centres in the USA.

135 The ultimate goal of haemophilia treatment would be a phenotypical cure achie

136 creening (<=10 bleeds and >10 bleeds) and by haemophilia type (haemophilia A or B).

137 or by confounding with other factors such as haemophilia type or severity.

138 In the past, men with haemophilia were likely to die in their youth.

139 For men and boys with severe haemophilia who were not infected with HIV-1, the cumula

140 Most people with haemophilia who were treated with blood products before

141 [explorer8] and one from a related trial in haemophilia with inhibitors [explorer7; NCT04083781]) an

142 fitusiran prophylaxis in people with severe haemophilia without inhibitors.