References
- Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia. Haemophilia. 2020;26(S6):1–158. 3rd ed. doi: 10.1111/hae.14046
- Castaman G, Matino D. Hemophilia a and B: molecular and clinical similarities and differences. Haematologica. 2019;104(9):1702–1709. doi: 10.3324/haematol.2019.221093
- Bladen M, Main E, Hubert N, et al. Factors affecting the haemophilia joint health score in children with severe haemophilia. Haemophilia. 2013;19(4):626–631. doi: 10.1111/hae.12108
- Van Vulpen, LFD,Holstein, KMartinoli, C, et al. Joint disease in haemophilia: pathophysiology, pain and imaging. Haemophilia. 2018;24(6):44–49. Suppl . doi: 10.1111/hae.13449
- Gringeri A, Ewenstein B, Reininger A. The burden of bleeding in haemophilia: is one bleed too many? Haemophilia. 2014;20(4):459–463. doi: 10.1111/hae.12375
- 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;357(6):535–544. doi: 10.1056/NEJMoa067659
- Van Vulpen, LFD ,Van Meegeren, MER Roosendaal, G et al. Biochemical markers of joint tissue damage increase shortly after a joint bleed; an explorative human and canine in vivo study. Osteoarthritis Cartilage. 2015;23(1):63–69. doi: 10.1016/j.joca.2014.09.008
- Hart DP, Matino D, Astermark J, et al. International consensus recommendations on the management of people with haemophilia B. Ther Adv Hematol. 2022;13:204062072210852. doi: 10.1177/20406207221085202
- Burke T, Shaikh A, Ali TM, et al. Association of factor expression levels with annual bleeding rate in people with haemophilia B. Haemophilia. 2023;29(1):115–122. doi: 10.1111/hae.14675
- Thornburg CD, Duncan NA. Treatment adherence in hemophilia. Patient Prefer Adherence. 2017;11:1677–1686. doi: 10.2147/PPA.S139851
- Shapiro A, Potts J, Li S, et al. Association of bleeding tendency with time under target FIX activity levels in severe hemophilia B patients treated with recombinant factor IX Fc fusion protein. Blood. 2013;122(21):2349–2349. doi: 10.1182/blood.V122.21.2349.2349
- Schrijvers LH, Beijlevelt-van der Zande M, Peters M, et al. Adherence to prophylaxis and bleeding outcome in haemophilia: a multicentre study. Br J Haematol. 2016;174(3):454–460. doi: 10.1111/bjh.14072
- Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: Current knowledge and future perspectives. J Thromb Haemost. 2021;19(9):2112–2121. doi: 10.1111/jth.15444
- duTreil S. Physical and psychosocial challenges in adult hemophilia patients with inhibitors. J Blood Med. 2014;5:115–122. doi: 10.2147/JBM.S63265
- DiMichele D. Inhibitor development in haemophilia B: an orphan disease in need of attention. Br J Haematol. 2007;138(3):305–315. doi: 10.1111/j.1365-2141.2007.06657.x
- Curtis R, Baker J, Riske B, et al. Young adults with hemophilia in the U.S.: demographics, comorbidities, and health status. Am J Hematol. 2015;90(2):S11–S16. Suppl. doi: 10.1002/ajh.24218
- Palareti L, Poti S, Cassis F, et al. Shared topics on the experience of people with haemophilia living in the UK and the USA and the influence of individual and contextual variables: results from the HERO qualitative study. Int J Qual Stud Health Well-Being. 2015;10(1):28915. doi: 10.3402/qhw.v10.28915
- Doshi BS, Arruda VR. Gene therapy for hemophilia: what does the future hold? Ther Adv Hematol. 2018;9(9):273–293. doi: 10.1177/2040620718791933
- Batty P, Lillicrap D. Hemophilia gene therapy: approaching the first licensed product. Hemasphere. 2021;5(3):e540. doi: 10.1097/HS9.0000000000000540
- Perrin G, Herzog R, Markusic D. Update on clinical gene therapy for hemophilia. Blood. 2019;113(5):407–414. doi: 10.1182/blood-2018-07-820720
- Arruda VR, Doshi BS, Arruda VR. Gene therapy for hemophilia: facts and quandaries in the 21st century. Mediterr J Hematol Infect Dis. 2020;12(1):e2020069. doi: 10.4084/mjhid.2020.069
- Escobar M, Santagostino E, Mancuso ME, et al. Switching patients in the age of long-acting recombinant products? Expert Rev Hematol. 2019;12(sup1):1–13. doi: 10.1080/17474086.2018.1564032
- Mancuso ME, Lubetsky A, Pan-Petesch B, et al. Long-term safety and efficacy of rIX-FP prophylaxis with extended dosing intervals up to 21 days in adults/adolescents with hemophilia B. J Thromb Haemost. 2020;18(5):1065–1074. doi: 10.1111/jth.14778
- Pipe SW, Shima M, Lehle M, et al. Efficacy, safety, and pharmacokinetics of emicizumab prophylaxis given every 4 weeks in people with haemophilia a (HAVEN 4): a multicentre, open-label, non-randomised phase 3 study. Lancet Haematol. 2019;6(6):e295–e305. doi: 10.1016/S2352-3026(19)30054-7
- Oldenburg J, Mahlangu JN, Kim B, et al. Emicizumab prophylaxis in hemophilia a with inhibitors. N Engl J Med. 2017;377(9):809–818. doi: 10.1056/NEJMoa1703068
- Mahlangu J, Kuliczkowski K, Karim FA, et al. Efficacy and safety of rVIII-SingleChain: results of a phase 1/3 multicenter clinical trial in severe hemophilia a. Blood. 2016;128(5):630–637. doi: 10.1182/blood-2016-01-687434
- Stasyshyn O, Djambas Khayat C, Iosava G, et al. Safety, efficacy and pharmacokinetics of rVIII-SingleChain in children with severe hemophilia A: results of a multicenter clinical trial. J Thromb Haemost. 2017;15(4):636–644. doi: 10.1111/jth.13647
- Mahlangu J, Powell JS, Ragni MV, et al. Phase 3 study of recombinant factor VIII Fc fusion protein in severe hemophilia a. Blood. 2014;123(3):317–325. doi: 10.1182/blood-2013-10-529974
- Blanchette VS, Shapiro AD, Liesner RJ, et al. Plasma and albumin-free recombinant factor VIII: pharmacokinetics, efficacy and safety in previously treated pediatric patients. J Thromb Haemost. 2008;6(8):1319–1326. doi: 10.1111/j.1538-7836.2008.03032.x
- Lissitchkov T, Rusen L, Georgiev P, et al. PK-guided personalized prophylaxis with Nuwiq((R)) (human-cl rhFVIII) in adults with severe haemophilia a. Haemophilia. 2017;23(5):697–704. doi: 10.1111/hae.13251
- Konkle BA, Stasyshyn O, Chowdary P, et al. Pegylated, full-length, recombinant factor VIII for prophylactic and on-demand treatment of severe hemophilia a. Blood. 2015;126(9):1078–1085. doi: 10.1182/blood-2015-03-630897
- BioMarin. ROCTAVIAN - Summary of product characteristics [Accessed Jun 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/roctavian-epar-product-information_en.pdf
- BioMarin. ROCTAVIAN - Prescribing Information [Accessed Oct 2023]. Available from: https://www.fda.gov/media/169937/download?attachment
- 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. Blood. 2016;127(14):1761–1769. doi: 10.1182/blood-2015-09-669234
- Kenet G, Chambost H, Male C, et al. Long-acting recombinant fusion protein linking coagulation factor IX with albumin (rIX-FP) in children. Results of a phase 3 trial. Thromb Haemost. 2016;116(4):659–668. doi: 10.1160/TH16-03-0179
- Kavakli K, Smith L, Kuliczkowski K, et al. Once-weekly prophylactic treatment vs. on-demand treatment with nonacog alfa in patients with moderately severe to severe haemophilia B. Haemophilia. 2016;22(3):381–388. doi: 10.1111/hae.12878
- Powell JS, Pasi KJ, Ragni MV, et al. Phase 3 study of recombinant factor IX Fc fusion protein in hemophilia B. N Engl J Med. 2013;369(24):2313–2323. doi: 10.1056/NEJMoa1305074
- World Federation of Hemophilia Online Registry of Clotting Factor Concentrates 2023 [Apr 2023]. Available from: https://wfh.org/article/wfh-online-registry-of-clotting-factor-concentrates/
- Pfizer. Prescribing information - BeneFIX [Accessed Feb 2023]. Available from: https://www.fda.gov/media/73556/download
- Pfizer. BeneFIX - Summary of product characteristics [Accessed Feb 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/benefix-epar-product-information_en.pdf
- Takeda. Prescribing information - RIXUBIS [Accessed Feb 2023]. Available from: https://www.fda.gov/media/86123/download
- Takeda. RIXUBIS - Summary of product characteristics [Accessed Feb 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/rixubis-epar-product-information_en.pdf
- CSL Behring. IDELVION - Summary of product characteristics [Accessed Feb 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/idelvion-epar-product-information_en.pdf
- CSL Behring. Prescribing information - IDELVION [Accessed Feb 2023]. Available from: https://www.fda.gov/media/96526/download
- Sobi. Prescribing Information - ALPROLIX [Accessed Feb 2023]. Available from: https://www.fda.gov/media/88119/download
- Sobi. ALPROLIX - Summary of product characteristics [Accessed Feb 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/alprolix-epar-product-information_en.pdf
- Novo Nordisk. REFIXIA - Summary of product characteristics [Accessed Feb 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/refixia-epar-product-information_en.pdf
- Novo Nordisk. Prescribing information - REBINYN [Accessed Feb 2023]. Available from: https://www.fda.gov/media/105491/download
- CSL Behring. Prescribing information - HEMGENIX [Accessed Jan 2023]. Available from: https://www.fda.gov/media/163467/download
- CSL Behring. HEMGENIX - Summary of product characteristics 2023 [Mar 2023]. Available from: https://www.ema.europa.eu/en/documents/product-information/hemgenix-epar-product-information_en.pdf
- George LA, Sullivan SK, Rasko JEJ, et al. Efficacy and safety in 15 hemophilia B patients treated with the AAV gene therapy vector fidanacogene elaparvovec and followed for at least 1 year. Blood. 2019;134(Supplement_1):3347–3347. doi: 10.1182/blood-2019-124091
- ClinicalTrials.gov; NCT03861273 [February 2023]. Available from: https://clinicaltrials.gov/ct2/show/NCT03861273
- Pasi KJ, 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 Thromb Haemost. 2021;19(6):1436–1446. doi: 10.1111/jth.15270
- ClinicalTrials.gov; NCT03754790[Accessed Jun 2023]. Available from: https://clinicaltrials.gov/ct2/show/NCT03754790
- Shapiro A, Angchaisuksiri P, Astermark J, et al. Subcutaneous concizumab prophylaxis in hemophilia a and hemophilia A/B with inhibitors: phase 2 trial results. Blood. 2019;134(22):1973–1982. doi: 10.1182/blood.2019001542
- ClinicalTrials.gov; NCT04083781 [Accessed Jun 2023]. Available from: https://clinicaltrials.gov/ct2/show/NCT04083781
- Mahlangu J, Luis Lamas J, Cristobal Morales J, et al. Long-term safety and efficacy of the anti-tissue factor pathway inhibitor marstacimab in participants with severe haemophilia: phase II study results. Br J Haematol. 2023;200(2):240–248. doi: 10.1111/bjh.18495
- ClinicalTrials.gov; NCT03938792 [Accessed Jun 2023]. Available from: https://clinicaltrials.gov/ct2/show/NCT03938792
- Baglin T, Koch A, Mocanu I, et al. Serpinpc in persons with severe hemophilia (PwH): updated results from a multi-center, multi-part, first-in-human study. Blood. 2022;140(Supplement 1):460–461. doi: 10.1182/blood-2022-159631
- ClinicalTrials.gov; NCT05789524 [Accessed Jun 2023]. Available from: https://clinicaltrials.gov/ct2/show/NCT05789524
- Medicines and Healthcare products regulatory Agency. Orphan registered medicinal products: HEMGENIX 2023 [Mar 2023]. Available from: https://www.gov.uk/government/publications/orphan-registered-medicinal-products/orphan-register#hemgenix-1-x-1013-genome-copiesml-concentrate-for-solution-for-infusion
- George LA, Monahan PE, Eyster ME, et al. Multiyear factor VIII expression after AAV gene transfer for hemophilia a. N Engl J Med. 2021;385(21):1961–1973. doi: 10.1056/NEJMoa2104205
- Pfizer. Pfizer and sangamo therapeutics announce Phase 3 trial of investigational gene therapy for hemophilia a has re-opened recruitment 2022. Available from: https://www.pfizer.com/news/announcements/pfizer-and-sangamo-therapeutics-announce-phase-3-trial-investigational-gene
- Chowdary P, Shapiro S, Makris M, et al. Phase 1-2 trial of AAVS3 gene therapy in patients with hemophilia B. N Engl J Med. 2022;387(3):237–247. doi: 10.1056/NEJMoa2119913
- Polderdijk SG, Adams TE, Ivanciu L, et al. Design and characterization of an APC-specific serpin for the treatment of hemophilia. Blood. 2017;129(1):105–113. doi: 10.1182/blood-2016-05-718635
- Pipe SW, Leebeek FWG, Recht M, et al. Gene therapy with etranacogene dezaparvovec for hemophilia B. N Engl J Med. 2023;388(8):706–718. doi: 10.1056/NEJMoa2211644
- von Drygalski A, Gomez E, Giermasz A, et al. Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy. Blood Adv. 2023;7(19):5671–5679. doi: 10.1182/bloodadvances.2022008886
- Mahlangu J, Kaczmarek R, von Drygalski A, et al. Two-year outcomes of valoctocogene roxaparvovec therapy for hemophilia a. N Engl J Med. 2023;388(8):694–705. doi: 10.1056/NEJMoa2211075
- Ozelo MC, Mahlangu J, Pasi KJ, et al. Valoctocogene roxaparvovec gene therapy for hemophilia A. N Engl J Med. 2022;386(11):1013–1025. doi: 10.1056/NEJMoa2113708
- 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;377(23):2215–2227. doi: 10.1056/NEJMoa1708538
- Nathwani AC, Reiss U, Tuddenham E, et al. Adeno-associated mediated gene transfer for hemophilia B: 8 year follow up and impact of removing “empty viral particles” on safety and efficacy of gene transfer. Blood. 2018;132(Supplement 1):491–491. doi: 10.1182/blood-2018-99-118334
- Miesbach W, Meijer K, Coppens M, et al. Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B. Blood. 2018;131(9):1022–1031. doi: 10.1182/blood-2017-09-804419
- Simioni P, Tormene D, Tognin G, et al. X-linked thrombophilia with a mutant factor IX (factor IX Padua). N Engl J Med. 2009;361(17):1671–1675. doi: 10.1056/NEJMoa0904377
- Spronck EA, Liu YP, Lubelski J, et al. Enhanced factor IX activity following administration of AAV5-R338L “Padua” factor IX versus AAV5 WT human factor IX in NHPs. Mol Ther Methods Clin Dev. 2019;15:221–231. doi: 10.1016/j.omtm.2019.09.005
- von Drygalski A, Giermasz A, Castaman G, et al. Etranacogene dezaparvovec (AMT-061 phase 2b): normal/near normal FIX activity and bleed cessation in hemophilia B. Blood Adv. 2019;3(21):3241–3247. doi: 10.1182/bloodadvances.2019000811
- VandenDriessche T, Chuah MK. Hyperactive factor IX Padua: a game-changer for hemophilia gene therapy. Mol Ther. 2018;26(1):14–16. doi: 10.1016/j.ymthe.2017.12.007
- Samelson-Jones BJ, Arruda VR. Protein-engineered coagulation factors for hemophilia gene therapy. Mol Ther Methods Clin Dev. 2019;12:184–201. doi: 10.1016/j.omtm.2018.12.007
- Majowicz A, Nijmeijer B, Lampen MH, et al. Therapeutic hFIX activity achieved after single AAV5-hFIX treatment in hemophilia B patients and NHPs with pre-existing anti-AAV5 NABs. Mol Ther Methods Clin Dev. 2019;14:27–36. doi: 10.1016/j.omtm.2019.05.009
- Manno CS, Pierce GF, Arruda VR, et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med. 2006;12(3):342–347. doi: 10.1038/nm1358
- 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;371(21):1994–2004. doi: 10.1056/NEJMoa1407309
- Miesbach W, Recht M, Key N, et al. Durability of factor IX activity and bleeding rate in people with severe or moderately severe hemophilia B after 5 years of follow-up in the Phase 1/2 study of AMT-060, and after 3 years of follow-up in the Phase 2b and 2 years of follow-up in the Phase 3 studies of etranacogene dezaparvovec (AMT-061). Blood. 2022;140(Supplement 1):4913–4914. doi: 10.1182/blood-2022-166810
- Wang L, Calcedo R, Bell P, et al. Impact of pre-existing immunity on gene transfer to nonhuman primate liver with adeno-associated virus 8 vectors. Hum Gene Ther. 2011;22(11):1389–1401. doi: 10.1089/hum.2011.031
- Jiang H, Couto LB, Patarroyo-White S, et al. Effects of transient immunosuppression on adenoassociated, virus-mediated, liver-directed gene transfer in rhesus macaques and implications for human gene therapy. Blood. 2006;108(10):3321–3328. doi: 10.1182/blood-2006-04-017913
- Scallan CD, Jiang H, Liu T, et al. Human immunoglobulin inhibits liver transduction by AAV vectors at low AAV2 neutralizing titers in SCID mice. Blood. 2006;107(5):1810–1817. doi: 10.1182/blood-2005-08-3229
- Meliani A, Leborgne C, Triffault S, et al. Determination of anti-adeno-associated virus vector neutralizing antibody titer with an in vitro reporter system. Hum Gene Ther Methods. 2015;26(2):45–53. doi: 10.1089/hgtb.2015.037
- Schmidt M, Foster GR, Coppens M, et al. Molecular evaluation and vector integration analysis of HCC complicating AAV gene therapy for hemophilia B. Blood Adv. 2023;7(17):4966–4969. doi: 10.1182/bloodadvances.2023009876
- Castaman G. Gene transfer in hemophilia B: a big step forward. Bleeding, Thrombosis, And Vascular Biology. 2023;2(2). doi: 10.4081/btvb.2023.70
- Rangarajan S, Walsh L, Lester W, et al. AAV5-factor VIII gene transfer in severe hemophilia a. N Engl J Med. 2017;377(26):2519–2530. doi: 10.1056/NEJMoa1708483
- Pipe S, Leebeek F, Recht M, et al. Adults with severe or moderately severe hemophilia B receiving etranacogene dezaparvovec in the HOPE-B Phase 3 clinical trial continue to experience a stable increase in mean factor IX activity levels and durable hemostatic protection after 24 months’ follow-up. Blood. 2022;140(Supplement 1):4910–4912. doi: 10.1182/blood-2022-166135
- Klamroth R, Hayes G, Andreeva T, et al. Global seroprevalence of pre-existing immunity against AAV5 and other AAV serotypes in people with hemophilia a. Hum Gene Ther. 2022;33(7–8):432–441. doi: 10.1089/hum.2021.287
- Leebeek FWG, Miesbach W. Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues. Blood. 2021;138(11):923–931. doi: 10.1182/blood.2019003777
- Pasi KJ, Laffan M, Rangarajan S, et al. Persistence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe haemophilia a. Haemophilia. 2021;27(6):947–956. doi: 10.1111/hae.14391
- Visweshwar N, Harrington TJ, Leavitt AD, 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. Blood. 2021;138(Supplement 1):564. doi: 10.1182/blood-2021-148651
- Kamphuisen PW, Eikenboom JC, Bertina RM. Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol. 2001;21(5):731–738. doi: 10.1161/01.ATV.21.5.731
- World Federation of Hemophilia. Pfizer/Sangamo therapeutics report severe adverse event (SAE) from phase 3 AFFINE haemophilia a gene therapy study 2022 [23 Jan 2023]. Available from: https://wfh.org/article/pfizer-sangamo-therapeutics-report-severe-adverse-event-sae-from-phase-3-affine-haemophilia-a-gene-therapy-study/
- Franchini M, Mannucci PM. Non-factor replacement therapy for haemophilia: a current update. Blood Transfus. 2018;16(5):457–461. doi: 10.2450/2018.0272-17
- National Hemophilia Foundation. Sanofi revises fitusiran dosing regimen to mitigate risk of vascular thrombosis 2021 [06 Jun 2023]. Available from: https://www.hemophilia.org/news/sanofi-revises-fitusiran-dosing-regimen-to-mitigate-risk-of-vascular-thrombosis
- Tiede A. Thromboembolic risks of non-factor replacement therapies in hemophilia. Hamostaseologie. 2017;37(4):307–310. doi: 10.5482/20170004
- Foley JH, Shehu E, Riddell A, et al. Differences in wild-type- and R338L-tenase complex formation are at the root of R338L-factor IX assay discrepancies. Blood Adv. 2023;7(3):458–467. doi: 10.1182/bloodadvances.2022007435
- Miesbach W, Meijer K, Coppens M, et al. Five year data confirms stable FIX expression and sustained reductions in bleeding and factor IX use following AMT-060 gene therapy in adults with severe or moderate-severe hemophilia B. Res Pract Thromb Haemost. 2021;5(Suppl 2): 90.
- Croteau S, Eyster M, Tran H, et al. Long-term durable FVIII expression with improvements in bleeding rates following AAV-mediated FVIII gene transfer for hemophilia A: multiyear follow-up on the Phase I/II trial of SPK-8011. Blood. 2022;140(Supplement 1):1899–1901. doi: 10.1182/blood-2022-158903
- Pipe SW. Lifelong gene therapy in dogs with hemophilia a. Blood. 2022;140(25):2650–2652. doi: 10.1182/blood.2022016359
- Pipe SW, Sheehan JP, Coppens M, et al. First-in-human dose-finding study of AAVhu37 vector-based gene therapy: BAY 2599023 has stable and sustained expression of FVIII over 2 years. Blood. 2021;138(Supplement 1):3971–3971. doi: 10.1182/blood-2021-148661
- Mingozzi F, High KA. Immune responses to AAV vectors: overcoming barriers to successful gene therapy. Blood. 2013;122(1):23–36. doi: 10.1182/blood-2013-01-306647
- Poothong J, Pottekat A, Siirin M, et al. Factor VIII exhibits chaperone-dependent and glucose-regulated reversible amyloid formation in the endoplasmic reticulum. Blood. 2020;135(21):1899–1911. doi: 10.1182/blood.2019002867
- Astermark J, Lucas S, Chen L, et al. Analysis of elevated alanine transaminase in HOPE-B, a Phase 3 recombinant adeno-associated viral 5 gene therapy trial in people with haemophilia B (PO040). Haemophilia. 2023;29(S1):43.
- Miesbach W, O’Mahony B, Key NS, et al. How to discuss gene therapy for haemophilia? A patient and physician perspective. Haemophilia. 2019;25(4):545–557. doi: 10.1111/hae.13769
- BioMarin. BioMarin Announces durable Hemostatic efficacy maintained over 6 years in Ongoing Phase 1/2 study of valoctocogene roxaparvovec, investigational gene therapy for hemophilia a 2022. Available from: https://investors.biomarin.com/2022-05-31-BioMarin-Announces-Durable-Hemostatic-Efficacy-Maintained-Over-6-years-in-Ongoing-Phase-1-2-Study-of-Valoctocogene-Roxaparvovec,-Investigational-Gene-Therapy-for-Hemophilia-A
- United States Securities and Exchange Commission . BioMarin Pharamceuticals Inc Form. 2022;8–K.
- Miesbach W, Foster GR, Peyvandi F. Liver-related aspects of gene therapy for haemophilia: call to action for collaboration between haematologists and hepatologists. J Hepatol. 2023;78(3):467–470. doi: 10.1016/j.jhep.2022.11.014
- Miesbach W, Foster G, Peyvandi F. Liver-related aspects of gene therapy for haemophilia: need for collaborations with hepatologists. J Thromb Haemost. 2023;21(2):200–203. doi: 10.1016/j.jtha.2022.11.026
- Konkle BA, Coffin D, Pierce GF, et al. World Federation of hemophilia gene therapy registry. Haemophilia. 2020;26(4):563–564. doi: 10.1111/hae.14015
- Food and Drug Administration. Long term follow-up after administration of human gene therapy products 2020. Available from: https://www.fda.gov/regulatory-information/search-fda-guidance-documents/long-term-follow-after-administration-human-gene-therapy-products
- World Federation of Hemophilia Gene Therapy Registry 2022. Available from: https://elearning.wfh.org/resource/the-world-federation-of-hemophilia-gene-therapy-registry-informational-webinar/
- Limjoco J, Thornburg CD. Gene therapy for hemophilia A: a mixed methods study of patient preferences and shared decision-making. Patient Prefer Adherence. 2023;17:1093–1105. doi: 10.2147/PPA.S406894
- Fletcher S, Jenner K, Pembroke L, et al. The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the exigency study. Orphanet J Rare Dis. 2022;17(1):155. doi: 10.1186/s13023-022-02256-2
- Witkop M, Morgan G, O’Hara J, et al. Patient preferences and priorities for haemophilia gene therapy in the US: a discrete choice experiment. Haemophilia. 2021;27(5):769–782. doi: 10.1111/hae.14383
- van Overbeeke E, Michelsen S, Hauber B, et al. Patient perspectives regarding gene therapy in haemophilia: interviews from the PAVING study. Haemophilia. 2021;27(1):129–136. doi: 10.1111/hae.14190
- Fletcher S, Jenner K, Holland M, et al. An exploration of why men with severe haemophilia might not want gene therapy: the exigency study. Haemophilia. 2021;27(5):760–768. doi: 10.1111/hae.14378
- Miesbach W, Chowdary P, Coppens M, et al. Delivery of AAV-based gene therapy through haemophilia centres-A need for re-evaluation of infrastructure and comprehensive care: a joint publication of EAHAD and EHC. Haemophilia. 2021;27(6):967–973. doi: 10.1111/hae.14420
- EAHAD – EHC Statement on Gene Therapies Hub-and-Spoke Model [Apr 2023]. Available from: https://www.eahad.org/eahad-ehc-statement-on-promoting-hub-and-spoke-model-using-gene-therapies/
- European Medicines Agency. Summary of opinion: initial authorisation HEMGENIX 2022. Available from: https://www.ema.europa.eu/en/documents/smop-initial/chmp-summary-positive-opinion-hemgenix_en.pdf
- Miesbach W, Recht M, Key NS, et al. Durability of response after long-term follow-up in the Phase 1/2 study of AMT-060, and Phase 2b and 3 studies of etranacogene dezaparvovec in haemophilia B. Haemophilia. 2023;29(S1):24–202.
- Institute for Clinical and Economic Review. Gene therapy for hemophilia B and an update on gene therapy for hemophilia A: final Policy Recommendations [Accessed Jan 2023]. Available from: https://icer.org/wp-content/uploads/2022/12/ICER-Hemophilia-Policy-Recommendations-122222.pdf