1、[78] 张磊,代新岳.血友病基因治疗临床研究进展[J].临床血液学杂志,2022,35(7):464-468.[78] 张磊,代新岳.血友病基因治疗临床研究进展[J].临床血液学杂志,2022,35(7):464-468.
2、[77] PASI K J,RANGARAJAN S,MITCHELL N,et al.Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A[J].N Engl J Med,2020,382(1):29-40.[77] PASI K J,RANGARAJAN S,MITCHELL N,et al.Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A[J].N Engl J Med,2020,382(1):29-40.
3、[76] RANGARAJAN S,WALSH L,LESTER W,et al.AAV5-factor VIII gene transfer in severe hemophilia A[J].N Engl J Med,2017,377(26):2519-2530.[76] RANGARAJAN S,WALSH L,LESTER W,et al.AAV5-factor VIII gene transfer in severe hemophilia A[J].N Engl J Med,2017,377(26):2519-2530.
4、[75] LEK A,WONG B,KEELER A,et al.Death after high-dose rAAV9 gene therapy in a patient with duchenne’s muscular dystrophy[J].N Engl J Med,2023,389(13):1203-1210.[75] LEK A,WONG B,KEELER A,et al.Death after high-dose rAAV9 gene therapy in a patient with duchenne’s muscular dystrophy[J].N Engl J Med,2023,389(13):1203-1210.
5、[74] VALENTINO L A,KACZMAREK R,PIERCE G F,et al.Hemophilia gene therapy:first,do no harm[J].J Thromb Haemost,2023,21(9):2354-2361.[74] VALENTINO L A,KACZMAREK R,PIERCE G F,et al.Hemophilia gene therapy:first,do no harm[J].J Thromb Haemost,2023,21(9):2354-2361.
6、[73] REISS U M,MAHLANGU J,OHMORI T,et al.Haemophilia gene therapy-Update on new country initiatives[J].Haemophilia,2022,28(Suppl 4):61-67.[73] REISS U M,MAHLANGU J,OHMORI T,et al.Haemophilia gene therapy-Update on new country initiatives[J].Haemophilia,2022,28(Suppl 4):61-67.
7、[72] LIU W,XUE F,SUN T,et al.AAV8 gene therapy for hemophilia A patients from China[J].Blood,2022,140(Supplement 1):4925.[72] LIU W,XUE F,SUN T,et al.AAV8 gene therapy for hemophilia A patients from China[J].Blood,2022,140(Supplement 1):4925.
8、[71] WU W,XIAO L,WU X,et al.Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis[J].Haematologica,2020,106(1):264-268.[71] WU W,XIAO L,WU X,et al.Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis[J].Haematologica,2020,106(1):264-268.
9、[70] XUE F,LI H,WU X,et al.Safety and activity of an engineered,liver-tropic adeno-associated virus vector expressing a hyperactive Padua factor IX administered with prophylactic glucocorticoids in patients with haemophilia B:a single-centre,single-arm,phase 1,pilot trial[J].Lancet Haematol,2022,9(7):e504-e513.[70] XUE F,LI H,WU X,et al.Safety and activity of an engineered,liver-tropic adeno-associated virus vector expressing a hyperactive Padua factor IX administered with prophylactic glucocorticoids in patients with haemophilia B:a single-centre,single-arm,phase 1,pilot trial[J].Lancet Haematol,2022,9(7):e504-e513.
10、[69] GEORGE L A,MONAHAN P E,EYSTER M E,et al.Multiyear factor VIII expression after AAV gene transfer for hemophilia A[J].N Engl J Med,2021,385(21):1961-1973.[69] GEORGE L A,MONAHAN P E,EYSTER M E,et al.Multiyear factor VIII expression after AAV gene transfer for hemophilia A[J].N Engl J Med,2021,385(21):1961-1973.
11、[68] PERRIN G Q,HERZOG R W,MARKUSIC D M.Update on clinical gene therapy for hemophilia[J].Blood,2019,133(5):407-414.[68] PERRIN G Q,HERZOG R W,MARKUSIC D M.Update on clinical gene therapy for hemophilia[J].Blood,2019,133(5):407-414.
12、[67] PIPE S W,RECHT M,KEY N S,et al.First data from the phase 3 HOPE-B gene therapy trial:efficacyPIPE S W,RECHT M,KEY N S,First data from the phase 3 HOPE-B gene therapy trial:efficacy and safety of etranacogene dezaparvovec (AAV5-padua hFIX variant; AMT-061) in adults with severe or moderate-severe hemophilia B treated irrespective of pre-existing anti-capsid neutralizing antibodies[J].Blood,2020,136(S2):LBA-6-LBA-6.[67] PIPE S W,RECHT M,KEY N S,et al.First data from the phase 3 HOPE-B gene therapy trial:efficacyPIPE S W,RECHT M,KEY N S,First data from the phase 3 HOPE-B gene therapy trial:efficacy and safety of etranacogene dezaparvovec (AAV5-padua hFIX variant; AMT-061) in adults with severe or moderate-severe hemophilia B treated irrespective of pre-existing anti-capsid neutralizing antibodies[J].Blood,2020,136(S2):LBA-6-LBA-6.
13、[66] OHMORI T.Advances in gene therapy for hemophilia:basis,current status,and future perspectives[J].Int J Hematol,2020,111(1):31-41.[66] OHMORI T.Advances in gene therapy for hemophilia:basis,current status,and future perspectives[J].Int J Hematol,2020,111(1):31-41.
14、[65] REISS U M,DAVIDOFF A M,TUDDENHAM E G D,et al.Stable Therapeutic Transgenic FIX Levels for More Than 10 Years in Subjects with Severe Hemophilia B Who Received scAAV2/8-LP1-Hfixco Adeno-Associated Virus Gene Therapy[J].Blood,2023,142(Supplement 1):1056.[65] REISS U M,DAVIDOFF A M,TUDDENHAM E G D,et al.Stable Therapeutic Transgenic FIX Levels for More Than 10 Years in Subjects with Severe Hemophilia B Who Received scAAV2/8-LP1-Hfixco Adeno-Associated Virus Gene Therapy[J].Blood,2023,142(Supplement 1):1056.
15、[64] NGUYEN G N,EVERETT J K,KAFLE S,et al.A long-term study of AAV gene therapy in dogs with hemophilia A identifies clonal expansions of transduced liver cells[J].Nat Biotechnol,2021,39(1):47-55.[64] NGUYEN G N,EVERETT J K,KAFLE S,et al.A long-term study of AAV gene therapy in dogs with hemophilia A identifies clonal expansions of transduced liver cells[J].Nat Biotechnol,2021,39(1):47-55.
16、[63] TAN J,ZHANG X,LI D,et al.scAAV2-mediated C3 transferase gene therapy in a rat model with retinal ischemia/reperfusion injuries[J].Mol Ther Methods Clin Dev,2020(17):894-903.[63] TAN J,ZHANG X,LI D,et al.scAAV2-mediated C3 transferase gene therapy in a rat model with retinal ischemia/reperfusion injuries[J].Mol Ther Methods Clin Dev,2020(17):894-903.
17、[62] NATHWANI A C,ROSALES C,MCINTOSH J,et al.Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins[J].Mol Ther,2011,19(5):876-885.[62] NATHWANI A C,ROSALES C,MCINTOSH J,et al.Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins[J].Mol Ther,2011,19(5):876-885.
18、[61] HIGH K A.Adeno-associated virus-mediated gene transfer for hemophilia B[J].Int J Hematol,2002,76(4):310-318.[61] HIGH K A.Adeno-associated virus-mediated gene transfer for hemophilia B[J].Int J Hematol,2002,76(4):310-318.
19、[60] ILYINSKII P O,MICHAUD A M,ROY C J,et al.Enhancement of liver-directed transgene expression at initial and repeat doses of AAV vectors admixed with ImmTOR nanoparticles[J].Sci Adv,2021,7(9):eabd0321.[60] ILYINSKII P O,MICHAUD A M,ROY C J,et al.Enhancement of liver-directed transgene expression at initial and repeat doses of AAV vectors admixed with ImmTOR nanoparticles[J].Sci Adv,2021,7(9):eabd0321.
20、[59] MELIANI A,BOISGERAULT F,HARDET R,et al.Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration[J].Nat Commun,2018,9(1):4098.[59] MELIANI A,BOISGERAULT F,HARDET R,et al.Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration[J].Nat Commun,2018,9(1):4098.
21、[58] LEBORGNE C,BARBON E,ALEXANDER J M,et al.IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies[J].Nat med,2020,26(7):1096-101.[58] LEBORGNE C,BARBON E,ALEXANDER J M,et al.IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies[J].Nat med,2020,26(7):1096-101.
22、[57] MINGOZZI F,ANGUELA X M,PAVANI G,et al.Overcoming preexisting humoral immunity to AAV using capsid decoys[J].Sci Transl Med,2013,5(194):194ra92.[57] MINGOZZI F,ANGUELA X M,PAVANI G,et al.Overcoming preexisting humoral immunity to AAV using capsid decoys[J].Sci Transl Med,2013,5(194):194ra92.
23、[56] MONTEILHET V,SAHEB S,BOUTIN S,et al.A 10 patient case report on the impact of plasmapheresis upon neutralizing factors against adeno-associated virus (AAV) types 1,2,6,and 8[J].Mol Ther,2011,19(11):2084-2091.[56] MONTEILHET V,SAHEB S,BOUTIN S,et al.A 10 patient case report on the impact of plasmapheresis upon neutralizing factors against adeno-associated virus (AAV) types 1,2,6,and 8[J].Mol Ther,2011,19(11):2084-2091.
24、[55] WEBER T.Anti-AAV antibodies in AAV gene therapy:Current challenges and possible solutions[J].Front Immunol,2021(12):658399.[55] WEBER T.Anti-AAV antibodies in AAV gene therapy:Current challenges and possible solutions[J].Front Immunol,2021(12):658399.
25、[54] SCALLAN C D,JIANG H,LIU T,et al.Human immunoglobulin inhibits liver transduction by AAV vectors at low AAV2 neutralizing titers in SCID mice[J].Blood,2006,107(5):1810-1817.[54] SCALLAN C D,JIANG H,LIU T,et al.Human immunoglobulin inhibits liver transduction by AAV vectors at low AAV2 neutralizing titers in SCID mice[J].Blood,2006,107(5):1810-1817.
26、[53] MANNO C S,PIERCE G F,ARRUDA V R,et al.Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response[J].Nat Med,2006,12(3):342-347.[53] MANNO C S,PIERCE G F,ARRUDA V R,et al.Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response[J].Nat Med,2006,12(3):342-347.
27、[52] GY?RGY B.Clearing the path for gene therapy[J].Sci Transl Med,2020,12(551):eabd3080.[52] GY?RGY B.Clearing the path for gene therapy[J].Sci Transl Med,2020,12(551):eabd3080.
28、[51] STANFORD S,PINK R,CREAGH D,et al.Adenovirus-associated antibodies in UK cohort of hemophilia patients:A seroprevalence study of the presence of adenovirus-associated virus vector-serotypes AAV5 and AAV8 neutralizing activity and antibodies in patients with hemophilia A[J].Res Pract Thromb Haemost,2019,3(2):261-267.[51] STANFORD S,PINK R,CREAGH D,et al.Adenovirus-associated antibodies in UK cohort of hemophilia patients:A seroprevalence study of the presence of adenovirus-associated virus vector-serotypes AAV5 and AAV8 neutralizing activity and antibodies in patients with hemophilia A[J].Res Pract Thromb Haemost,2019,3(2):261-267.
29、[50] MIMURO J,MIZUKAMI H,HISHIKAWA S,et al.Minimizing the inhibitory effect of neutralizing antibody for efficient gene expression in the liver with adeno-associated virus 8 vectors[J].Mol Ther,2013,21(2):318-323.[50] MIMURO J,MIZUKAMI H,HISHIKAWA S,et al.Minimizing the inhibitory effect of neutralizing antibody for efficient gene expression in the liver with adeno-associated virus 8 vectors[J].Mol Ther,2013,21(2):318-323.
30、[49] CHOWDARY P,SHAPIRO S,MAKRIS M,et al.Phase 1-2 trial of AAVS3 gene therapy in patients with hemophilia B[J].N Engl J Med,2022,387(3):237-247.[49] CHOWDARY P,SHAPIRO S,MAKRIS M,et al.Phase 1-2 trial of AAVS3 gene therapy in patients with hemophilia B[J].N Engl J Med,2022,387(3):237-247.
31、[48] GEORGE L A,SULLIVAN S K,GIERMASZ A,et al.Spk-9001:Adeno-associated virus mediated gene transfer for hemophilia B - 1 year follow up and impact of baseline characteristics on transgene-derived factor ix activity and persistence[J].Blood,2017,130(Supplement 1):601.[48] GEORGE L A,SULLIVAN S K,GIERMASZ A,et al.Spk-9001:Adeno-associated virus mediated gene transfer for hemophilia B - 1 year follow up and impact of baseline characteristics on transgene-derived factor ix activity and persistence[J].Blood,2017,130(Supplement 1):601.
32、[48] OZELO M C,MAHLANGU J,PASI K J,et al.Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A[J].2022,386(11):1013-25.[48] OZELO M C,MAHLANGU J,PASI K J,et al.Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A[J].2022,386(11):1013-25.
33、[47] VISWESHWAR N,HARRINGTON T J,LEAVITT A D,et al.Updated results of the Alta study,a phase 1/2 study of giroctocogene fitelparvovec (PF-07055480/SB-525) gene therapy in adults with severe hemophilia A[J].Blood,2021,138(Supplement 1):564.[47] VISWESHWAR N,HARRINGTON T J,LEAVITT A D,et al.Updated results of the Alta study,a phase 1/2 study of giroctocogene fitelparvovec (PF-07055480/SB-525) gene therapy in adults with severe hemophilia A[J].Blood,2021,138(Supplement 1):564.
34、[46] YANG T Y,BRAUN M,LEMBKE W,et al.Immunogenicity assessment of AAV-based gene therapies:An IQ consortium industry white paper[J].Mol Ther Methods Clin Dev,2022(26):471-494.[46] YANG T Y,BRAUN M,LEMBKE W,et al.Immunogenicity assessment of AAV-based gene therapies:An IQ consortium industry white paper[J].Mol Ther Methods Clin Dev,2022(26):471-494.
35、[45] 赵晨阳,黄云虹,于爱平,等.基因治疗血友病的临床试验设计探讨[J].中国临床药理学杂志,2022,38(17):2102-2105.[45] 赵晨阳,黄云虹,于爱平,等.基因治疗血友病的临床试验设计探讨[J].中国临床药理学杂志,2022,38(17):2102-2105.
36、[44] WANG C,ZHANG Y,DONG Y.Lipid nanoparticle-mRNA formulations for therapeutic applications[J].Acc Chem Res,2021,54(23):4283-4293.[44] WANG C,ZHANG Y,DONG Y.Lipid nanoparticle-mRNA formulations for therapeutic applications[J].Acc Chem Res,2021,54(23):4283-4293.
37、[43] HAN J P,KIM M,CHOI B S,et al.In vivo delivery of CRISPR-Cas9 using lipid nanoparticles enables antithrombin gene editing for sustainable hemophilia A and B therapy[J].Sci Adv,2022,8(3):eabj6901.[43] HAN J P,KIM M,CHOI B S,et al.In vivo delivery of CRISPR-Cas9 using lipid nanoparticles enables antithrombin gene editing for sustainable hemophilia A and B therapy[J].Sci Adv,2022,8(3):eabj6901.
38、[42] KAZEMIAN P,YU S Y,THOMSON S B,et al.Lipid-nanoparticle-based delivery of CRISPR/Cas9 genome-editing components[J].Mol Pharm,2022,19(6):1669-1686.[42] KAZEMIAN P,YU S Y,THOMSON S B,et al.Lipid-nanoparticle-based delivery of CRISPR/Cas9 genome-editing components[J].Mol Pharm,2022,19(6):1669-1686.
39、[41] YIN H,KANASTY R L,ELTOUKHY A A,et al.Non-viral vectors for gene-based therapy[J].Nat Rev Genet,2014,15(8):541-555.[41] YIN H,KANASTY R L,ELTOUKHY A A,et al.Non-viral vectors for gene-based therapy[J].Nat Rev Genet,2014,15(8):541-555.
40、[40] WANG C,PAN C,YONG H,et al.Emerging non-viral vectors for gene delivery[J].J Nanobiotechnology,2023,21(1):272.[40] WANG C,PAN C,YONG H,et al.Emerging non-viral vectors for gene delivery[J].J Nanobiotechnology,2023,21(1):272.
41、[39] WU Z,ASOKAN A,SAMULSKI R J.Adeno-associated virus serotypes:vector toolkit for human gene therapy[J].Mol Ther,2006,14(3):316-327.[39] WU Z,ASOKAN A,SAMULSKI R J.Adeno-associated virus serotypes:vector toolkit for human gene therapy[J].Mol Ther,2006,14(3):316-327.
42、Clinical considerations for capsid choice in the development of liver-targeted AAV-based gene transfer[J].Mol Ther Methods Clin Dev,2019(15):170-178.Clinical considerations for capsid choice in the development of liver-targeted AAV-based gene transfer[J].Mol Ther Methods Clin Dev,2019(15):170-178.
43、 PIPE S,LEEBEEK F W G,FERREIRA V,et al. PIPE S,LEEBEEK F W G,FERREIRA V,et al.
44、 SOMANATHAN S,CALCEDO R,WILSON J M.Adenovirus-antibody complexes contributed to lethal systemic inflammation in a gene therapy trial[J].Mol Ther,2020,28(3):784-793. SOMANATHAN S,CALCEDO R,WILSON J M.Adenovirus-antibody complexes contributed to lethal systemic inflammation in a gene therapy trial[J].Mol Ther,2020,28(3):784-793.
45、 LI X,LE Y,ZHANG Z,et al.Viral vector-based gene therapy[J].Int J Mol Sci,2023,24(9):7736. LI X,LE Y,ZHANG Z,et al.Viral vector-based gene therapy[J].Int J Mol Sci,2023,24(9):7736.
46、 SHI Q,CARMAN C V,CHEN Y,et al.Unexpected enhancement of FVIII immunogenicity by endothelial expression in lentivirus-transduced and transgenic mice[J].Blood Adv,2020,4(10):2272-2285. SHI Q,CARMAN C V,CHEN Y,et al.Unexpected enhancement of FVIII immunogenicity by endothelial expression in lentivirus-transduced and transgenic mice[J].Blood Adv,2020,4(10):2272-2285.
47、 CHEN Y,SCHROEDER J A,KUETHER E L,et al.Platelet gene therapy by lentiviral gene delivery to hematopoietic stem cells restores hemostasis and induces humoral immune tolerance in FIX(null) mice[J].Mol Ther,2014,22(1):169-177. CHEN Y,SCHROEDER J A,KUETHER E L,et al.Platelet gene therapy by lentiviral gene delivery to hematopoietic stem cells restores hemostasis and induces humoral immune tolerance in FIX(null) mice[J].Mol Ther,2014,22(1):169-177.
48、 WANG X,SHIN S C,CHIANG A F,et al.Intraosseous delivery of lentiviral vectors targeting factor VIII expression in platelets corrects murine hemophilia A[J].Mol Ther,2015,23(4):617-626. WANG X,SHIN S C,CHIANG A F,et al.Intraosseous delivery of lentiviral vectors targeting factor VIII expression in platelets corrects murine hemophilia A[J].Mol Ther,2015,23(4):617-626.
49、 BULCHA J T,WANG Y,MA H,et al.Viral vector platforms within the gene therapy landscape[J].Signal Transduct Target Ther,2021,6(1):53. BULCHA J T,WANG Y,MA H,et al.Viral vector platforms within the gene therapy landscape[J].Signal Transduct Target Ther,2021,6(1):53.
50、 WANG S W,GAO C,ZHENG Y M,et al.Current applications and future perspective of CRISPR/Cas9 gene editing in cancer[J].Mol Cancer,2022,21(1):57. WANG S W,GAO C,ZHENG Y M,et al.Current applications and future perspective of CRISPR/Cas9 gene editing in cancer[J].Mol Cancer,2022,21(1):57.
51、 DAI X Y,ZHANG L.Research advances on gene therapy for hemophilia[J].Zhonghua xue ye xue za zhi,2018,39(4):350-352. DAI X Y,ZHANG L.Research advances on gene therapy for hemophilia[J].Zhonghua xue ye xue za zhi,2018,39(4):350-352.
52、 BATTY P,LILLICRAP D.Hemophilia gene therapy:Approaching the first licensed product[J].HemaSphere,2021,5(3):e540. BATTY P,LILLICRAP D.Hemophilia gene therapy:Approaching the first licensed product[J].HemaSphere,2021,5(3):e540.
53、 MANCUSO M E,MAHLANGU J N,PIPE S W.The changing treatment landscape in haemophilia:From standard half-life clotting factor concentrates to gene editing[J].Lancet,2021,397(10274):630-640. MANCUSO M E,MAHLANGU J N,PIPE S W.The changing treatment landscape in haemophilia:From standard half-life clotting factor concentrates to gene editing[J].Lancet,2021,397(10274):630-640.
54、 BLAIR H A.Valoctocogene roxaparvovec:First approval[J].Drugs,2022,82(14):1505-1510. BLAIR H A.Valoctocogene roxaparvovec:First approval[J].Drugs,2022,82(14):1505-1510.
55、 INC B P.BioMarin Announces Oral Presentation of Positive One-Year Results from Phase 3 Pivotal Trial with Valoctocogene Roxaparvovec Gene Therapy in Adults with Severe Hemophilia A at International Society on Thrombosis and Haemostasis (ISTH) 2021 Virtual Congress[Z].2021 INC B P.BioMarin Announces Oral Presentation of Positive One-Year Results from Phase 3 Pivotal Trial with Valoctocogene Roxaparvovec Gene Therapy in Adults with Severe Hemophilia A at International Society on Thrombosis and Haemostasis (ISTH) 2021 Virtual Congress[Z].2021
56、 LONG B R,VERON P,KURANDA K,et al.Early phase clinical immunogenicity of valoctocogene roxaparvovec,an AAV5-mediated gene therapy for hemophilia A[J].Mol Ther,2021,29(2):597-610. LONG B R,VERON P,KURANDA K,et al.Early phase clinical immunogenicity of valoctocogene roxaparvovec,an AAV5-mediated gene therapy for hemophilia A[J].Mol Ther,2021,29(2):597-610.
57、 OZELO M C,MAHLANGU J,PASI K J,et al.Valoctocogene roxaparvovec gene therapy for hemophilia A[J].N Engl J Med,2022,386(11):1013-1025. OZELO M C,MAHLANGU J,PASI K J,et al.Valoctocogene roxaparvovec gene therapy for hemophilia A[J].N Engl J Med,2022,386(11):1013-1025.
58、 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[J].Mol Ther,2018,26(2):496-509. 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[J].Mol Ther,2018,26(2):496-509.
59、 PIPE S,RAGNI M V,NéGRIER C,et al.Fitusiran,an RNAi therapeutic targeting antithrombin to restore hemostatic balance in patients with hemophilia a or B with or without inhibitors:Management of acute bleeding events[J].Blood,2019,134(Supplement_1):1138. PIPE S,RAGNI M V,NéGRIER C,et al.Fitusiran,an RNAi therapeutic targeting antithrombin to restore hemostatic balance in patients with hemophilia a or B with or without inhibitors:Management of acute bleeding events[J].Blood,2019,134(Supplement_1):1138.
60、 YOUNG G,SRIVASTAVA A,KAVAKLI K,et al.Efficacy and safety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors (ATLAS-INH):A multicentre,open-label,randomised phase 3 trial[J].Lancet,2023,401(10386):1427-1437. YOUNG G,SRIVASTAVA A,KAVAKLI K,et al.Efficacy and safety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors (ATLAS-INH):A multicentre,open-label,randomised phase 3 trial[J].Lancet,2023,401(10386):1427-1437.
61、 PASI K J,RANGARAJAN S,GEORGIEV P,et al.Targeting of antithrombin in hemophilia A or B with RNAi therapy[J].N Engl J Med,2017,377(9):819-828. PASI K J,RANGARAJAN S,GEORGIEV P,et al.Targeting of antithrombin in hemophilia A or B with RNAi therapy[J].N Engl J Med,2017,377(9):819-828.
62、 PASI K J,LISSITCHKOV T,MAMONOV V,et al.Targeting of antithrombin in hemophilia A or B with investigational siRNA therapeutic fitusiran—results of the phase 1 inhibitor cohort[J].J Thromb Haemost,2021,19(6):1436-1446. PASI K J,LISSITCHKOV T,MAMONOV V,et al.Targeting of antithrombin in hemophilia A or B with investigational siRNA therapeutic fitusiran—results of the phase 1 inhibitor cohort[J].J Thromb Haemost,2021,19(6):1436-1446.
63、 KEAM S J.Concizumab:First approval[J].Drugs,2023,83(11):1053-1059. KEAM S J.Concizumab:First approval[J].Drugs,2023,83(11):1053-1059.
64、 BUTTERFIELD J S S,HEGE K M,HERZOG R W,et al.A molecular revolution in the treatment of hemophilia[J].Mol Ther,2020,28(4):997-1015. BUTTERFIELD J S S,HEGE K M,HERZOG R W,et al.A molecular revolution in the treatment of hemophilia[J].Mol Ther,2020,28(4):997-1015.
65、 BROWN K,GREEN G.The haemophilia drug market[J].Nat Rev Drug Discov,2018,17(8):541-542. BROWN K,GREEN G.The haemophilia drug market[J].Nat Rev Drug Discov,2018,17(8):541-542.
66、 WEYAND A C,PIPE S W.New therapies for hemophilia[J].Blood,2019,133(5):389-398. WEYAND A C,PIPE S W.New therapies for hemophilia[J].Blood,2019,133(5):389-398.
67、 KONKLE B A,SHAPIRO A D,QUON D V,et al.BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A[J].N Engl J Med,2020,383(11):1018-1027. KONKLE B A,SHAPIRO A D,QUON D V,et al.BIVV001 fusion protein as factor VIII replacement therapy for hemophilia A[J].N Engl J Med,2020,383(11):1018-1027.
68、 SETH CHHABRA E,LIU T,KULMAN J,et al.BIVV001,a new class of factor VIII replacement for hemophilia A that is independent of von Willebrand factor in primates and mice[J].Blood,2020,135(17):1484-1496. SETH CHHABRA E,LIU T,KULMAN J,et al.BIVV001,a new class of factor VIII replacement for hemophilia A that is independent of von Willebrand factor in primates and mice[J].Blood,2020,135(17):1484-1496.
69、 MAHDI A J,OBAJI S G,COLLINS P W.Role of enhanced half-life factor VIII and IX in the treatment of haemophilia[J].Br J Haematol,2015,169(6):768-776. MAHDI A J,OBAJI S G,COLLINS P W.Role of enhanced half-life factor VIII and IX in the treatment of haemophilia[J].Br J Haematol,2015,169(6):768-776.
70、 PEYVANDI F,KENET G,PEKRUL I,et al.Laboratory testing in hemophilia:Impact of factor and non-factor replacement therapy on coagulation assays[J].J Thromb Haemost,2020,18(6):1242-1255. PEYVANDI F,KENET G,PEKRUL I,et al.Laboratory testing in hemophilia:Impact of factor and non-factor replacement therapy on coagulation assays[J].J Thromb Haemost,2020,18(6):1242-1255.
71、 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].J Thromb Haemost,2015,13(6):967-977. 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].J Thromb Haemost,2015,13(6):967-977.
72、 KONKLE B A,STASYSHYN O,CHOWDARY P,et al.Pegylated,full-length,recombinant factor VIII for prophylactic and on-demand treatment of severe hemophilia A[J].Blood,2015,126(9):1078-1085. KONKLE B A,STASYSHYN O,CHOWDARY P,et al.Pegylated,full-length,recombinant factor VIII for prophylactic and on-demand treatment of severe hemophilia A[J].Blood,2015,126(9):1078-1085.
73、 SANTAGOSTINO E,MARTINOWITZ U,LISSITCHKOV T,et al.Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B:Results of a phase 3 trial[J].Blood,2016,127(14):1761-1769. SANTAGOSTINO E,MARTINOWITZ U,LISSITCHKOV T,et al.Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B:Results of a phase 3 trial[J].Blood,2016,127(14):1761-1769.
74、 POWELL J S,PASI K J,RAGNI M V,et al.Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B[J].N Engl J Med,2013,369(24):2313-2323. POWELL J S,PASI K J,RAGNI M V,et al.Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B[J].N Engl J Med,2013,369(24):2313-2323.
75、 COLLINS P W,YOUNG G,KNOBE K,et al.Recombinant long-acting glycoPEGylated factor IX in hemophilia B:A multinational randomized phase 3 trial[J].Blood,2014,124(26):3880-3886. COLLINS P W,YOUNG G,KNOBE K,et al.Recombinant long-acting glycoPEGylated factor IX in hemophilia B:A multinational randomized phase 3 trial[J].Blood,2014,124(26):3880-3886.
76、 PELLAND-MARCOTTE M C,CARCAO M D.Hemophilia in a changing treatment landscape[J].Hematol Oncol Clin North Am,2019,33(3):409-423. PELLAND-MARCOTTE M C,CARCAO M D.Hemophilia in a changing treatment landscape[J].Hematol Oncol Clin North Am,2019,33(3):409-423.
77、 MANNUCCI P M.Hemophilia therapy:The future has begun[J].Haematologica,2020,105(3):545-553. MANNUCCI P M.Hemophilia therapy:The future has begun[J].Haematologica,2020,105(3):545-553.
78、 ALAM A U,KARKHANEH M,WU C M,et al.All cause mortality and causes of death in people with hemophilia:A systematic review and meta analysis[J].Blood,2020,136(Supplement 1):30. ALAM A U,KARKHANEH M,WU C M,et al.All cause mortality and causes of death in people with hemophilia:A systematic review and meta analysis[J].Blood,2020,136(Supplement 1):30.
79、 薛峰,戴菁,陈丽霞,等.中国血友病诊治报告2023[J].诊断学理论与实践,2023,22(2):89-115. 薛峰,戴菁,陈丽霞,等.中国血友病诊治报告2023[J].诊断学理论与实践,2023,22(2):89-115.
80、 BOLTON-MAGGS P H B,PASI K J.Haemophilias a and B[J].Lancet,2003,361(9371):1801-1809. BOLTON-MAGGS P H B,PASI K J.Haemophilias a and B[J].Lancet,2003,361(9371):1801-1809.