Gene Therapy as a Treatment for Hemophilia
Article Sidebar
Main Article Content
Abstract
Hemophilia is a hereditary hemorrhagic disease caused by a deficiency of coagulation factors VIII (Hemophilia A) and IX (Hemophilia B). It is characterized by the presence of spontaneous systemic bleeding, but predominantly in joints and soft tissues. It is currently a manageable condition. Our goal is to control and prevent bleeding. This has been possible through various treatments such deficient factor infusion, long half-life factors, therapy not based on coagulation factors and lately the gene therapy that allows for long-term factor expression. General Objective: Collect information about the efficacy of gene therapy as a treatment for hemophilia. Methodology: This research is a descriptive bibliographic review, which includes articles whose publication date is at least five years old, by searching scientific databases, such as PubMed/Medline, ScienceDirect, Scopus, etc. And use of Boolean operators to acquire more information. Results: In both type A and B hemophilia, gene therapy is involved in significantly increasing the expression of factor VIII and IX, which causes a reduction in the amount of bleeding and prophylactic use of factor.
Downloads
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
1. Derechos de autor
Las obras que se publican en 593 Digital Publisher CEIT están sujetas a los siguientes términos:
1.1. 593 Digital Publisher CEIT, conserva los derechos patrimoniales (copyright) de las obras publicadas, favorece y permite la reutilización de las mismas bajo la licencia Licencia Creative Commons 4.0 de Reconocimiento-NoComercial-CompartirIgual 4.0, por lo cual se pueden copiar, usar, difundir, transmitir y exponer públicamente, siempre que:
1.1.a. Se cite la autoría y fuente original de su publicación (revista, editorial, URL).
1.1.b. No se usen para fines comerciales u onerosos.
1.1.c. Se mencione la existencia y especificaciones de esta licencia de uso.
Jennifer Giomara Cedillo-Prado , Universidad Católica de Cuenca - Ecuador
https://orcid.org/0000-0002-8894-0704
Born in Ecuador in the city of Cuenca. Undergraduate student at the Catholic University of Cuenca. Next to graduate as a General Physician. Author of a regional scientific article in Latindex.
Rosana Daniela Córdova-Serrano , Universidad Católica de Cuenca - Ecuador
https://orcid.org/0000-0002-4140-9940
Specialist in Internal Medicine from the Central University of Ecuador, subspecialist in hematology from the National Autonomous University of Mexico at the National Institute of Cancerology. Diploma as a university expert in lymphomas from the San Pablo University, Spain. Professor of Medicine at the University of Azuay, Professor of Hematology in the postgraduate course in Internal Medicine at UDLA and the Catholic University of Cuenca and Hematology Treater at the Monte Sinai Hospital. I have publications in journals of international impact with citations in Blood.
References
Robles-Rodríguez OA, Pérez-Trujillo JJ, Villanueva-Olivo A, Villarreal-Martínez L, Marfil-Rivera LJ, Rodríguez-Rocha H, et al. Advances in gene therapy for hemophilia. J Biosci [Internet]. diciembre de 2020 [citado 15 de noviembre de 2022];45(1):88. Disponible en: https://link.springer.com/10.1007/s12038-020-00057-y
Alblaihed L, Dubbs SB, Koyfman A, Long B. High risk and low prevalence diseases: Hemophilia emergencies. The American Journal of Emergency Medicine [Internet]. 1 de junio de 2022 [citado 25 de noviembre de 2022];56:21-7. Disponible en: https://www.sciencedirect.com/science/article/pii/S0735675722001309
Castellano M, E M. General concepts on hemophilia A and on women carrying the disease. Blood Coagulation & Fibrinolysis [Internet]. diciembre de 2020 [citado 2 de noviembre de 2022];31:S1. Disponible en: https://journals.lww.com/bloodcoagulation/Abstract/2020/12001/General_concepts_on_hemophilia_A_and_on_women.2.aspx
Hermans C, Noone D, Benson G, Dolan G, Eichler H, Jiménez-Yuste V, et al. Hemophilia treatment in 2021: Choosing the”optimal” treatment using an integrative, patient-oriented approach to shared decision-making between patients and clinicians. Blood Reviews [Internet]. 1 de marzo de 2022 [citado 26 de noviembre de 2022];52:100890. Disponible en: https://www.sciencedirect.com/science/article/pii/S0268960X21000965
Leebeek FWG, Miesbach W. Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues. Blood [Internet]. 16 de septiembre de 2021 [citado 1 de noviembre de 2022];138(11):923-31. Disponible en: https://doi.org/10.1182/blood.2019003777
Nathwani AC. Gene therapy for hemophilia. Hematology Am Soc Hematol Educ Program [Internet]. 6 de diciembre de 2019 [citado 1 de noviembre de 2022];2019(1):1-8. Disponible en: 10.1182/hematology.2019000007
Hirayama AB, Silva AKC da, Rocha JS, Roberti M do RF. Prevalence of symptoms in hemophilia carriers in comparison with the general population: a systematic review. Hematology, Transfusion and Cell Therapy [Internet]. 1 de octubre de 2019 [citado 26 de noviembre de 2022];41(4):349-55. Disponible en: https://www.sciencedirect.com/science/article/pii/S2531137919300902
Kadhim KAR, Al-Lami FH, Baldawi KH. Epidemiological Profile of Hemophilia in Baghdad-Iraq. Inquiry [Internet]. 12 de mayo de 2019 [citado 27 de noviembre de 2022];56:0046958019845280. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537227/
Butterfield JSS, Hege KM, Herzog RW, Kaczmarek R. A Molecular Revolution in the Treatment of Hemophilia. Molecular Therapy [Internet]. 8 de abril de 2020 [citado 16 de noviembre de 2022];28(4):997-1015. Disponible en: https://www.sciencedirect.com/science/article/pii/S1525001619305027
Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: Current knowledge and future perspectives. J Thromb Haemost [Internet]. septiembre de 2021 [citado 16 de noviembre de 2022];19(9):2112-21. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8456897/
Van Bergen EDP, Monnikhof M, Lafeber FPJG, Schutgens REG, Mastbergen SC, van Vulpen LFD. The fear for adverse bleeding and cardiovascular events in hemophilia patients using (non-)selective non-steroidal anti-inflammatory drugs: A systematic review reporting on safety. Blood Reviews [Internet]. 1 de noviembre de 2022 [citado 27 de noviembre de 2022];56:100987. Disponible en: https://www.sciencedirect.com/science/article/pii/S0268960X22000613
Okaygoun D, Oliveira DD, Soman S, Williams R. Advances in the management of haemophilia: emerging treatments and their mechanisms. J Biomed Sci [Internet]. 14 de septiembre de 2021 [citado 15 de noviembre de 2022];28:64. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442442/
Castaman G, Di Minno G, De Cristofaro R, Peyvandi F. The Arrival of Gene Therapy for Patients with Hemophilia A. Int J Mol Sci [Internet]. 6 de septiembre de 2022 [citado 3 de mayo de 2023];23(18):10228. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499514/
Perrin GQ, Herzog RW, Markusic DM. Update on clinical gene therapy for hemophilia. Blood [Internet]. 31 de enero de 2019 [citado 2 de noviembre de 2022];133(5):407-14. Disponible en: https://www.sciencedirect.com/science/article/pii/S0006497120428289
Ruiz-Sáez A. Tratamiento moderno de la hemofilia y el desarrollo de terapias innovadoras. Investigación Clínica [Internet]. marzo de 2021 [citado 15 de abril de 2023];62(1):73-95. Disponible en: http://ve.scielo.org/scielo.php?script=sci_abstract&pid=S0535-51332021000100073&lng=es&nrm=iso&tlng=es
Samelson-Jones BJ, George LA. Adeno-associated Virus Gene Therapy for Hemophilia. Annu Rev Med [Internet]. 27 de enero de 2023 [citado 15 de abril de 2023];74:231-47. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892335/
Ho BX, Loh SJH, Chan WK, Soh BS. In Vivo Genome Editing as a Therapeutic Approach. Int J Mol Sci [Internet]. 12 de septiembre de 2018 [citado 16 de abril de 2023];19(9):2721. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163904/
Han JP, Kim M, Choi BS, Lee JH, Lee GS, Jeong M, et al. In vivo delivery of CRISPR-Cas9 using lipid nanoparticles enables antithrombin gene editing for sustainable hemophilia A and B therapy. Sci Adv [Internet]. [citado 29 de noviembre de 2022];8(3):eabj6901. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782450/
Segurado OG, Jiang R, Pipe SW. Challenges and opportunities when transitioning from in vivo gene replacement to in vivo CRISPR/Cas9 therapies – a spotlight on hemophilia. Expert Opinion on Biological Therapy [Internet]. 2 de septiembre de 2022 [citado 16 de abril de 2023];22(9):1091-8. Disponible en: https://doi.org/10.1080/14712598.2022.2090241
Croteau SE. Hemophilia A/B. Hematology/Oncology Clinics of North America [Internet]. 1 de agosto de 2022 [citado 16 de abril de 2023];36(4):797-812. Disponible en: https://www.sciencedirect.com/science/article/pii/S0889858822000302
Maestro S, Weber ND, Zabaleta N, Aldabe R, Gonzalez-Aseguinolaza G. Novel vectors and approaches for gene therapy in liver diseases. JHEP Rep [Internet]. 30 de abril de 2021 [citado 16 de noviembre de 2022];3(4):100300. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203845/
Ernst MPT, Broeders M, Herrero-Hernandez P, Oussoren E, van der Ploeg AT, Pijnappel WWMP. Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease. Mol Ther Methods Clin Dev [Internet]. 3 de julio de 2020 [citado 29 de noviembre de 2022];18:532-57. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393410/
Pavani G, Laurent M, Fabiano A, Cantelli E, Sakkal A, Corre G, et al. Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins. Nat Commun [Internet]. 29 de julio de 2020 [citado 16 de noviembre de 2022];11:3778. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391635/
Cantore A, Naldini L. WFH State‐of‐the‐art paper 2020: In vivo lentiviral vector gene therapy for haemophilia. Haemophilia [Internet]. febrero de 2021 [citado 28 de noviembre de 2022];27(Suppl 3):122-5. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984334/
Yamaki Y, Fukushima T, Yoshida N, Nishimura K, Fukuda A, Hisatake K, et al. Utilization of a novel Sendai virus vector in ex vivo gene therapy for hemophilia A. Int J Hematol [Internet]. 1 de abril de 2021 [citado 3 de mayo de 2023];113(4):493-9. Disponible en: https://doi.org/10.1007/s12185-020-03059-6
Miesbach W, Meijer K, Coppens M, Kampmann P, Klamroth R, Schutgens R, et al. Gene therapy with adeno-associated virus vector 5–human factor IX in adults with hemophilia B. Blood [Internet]. 1 de marzo de 2018 [citado 15 de abril de 2023];131(9):1022-31. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833265/
Pasi KJ, Rangarajan S, Mitchell N, Lester W, Symington E, Madan B, et al. Multiyear Follow-up of AAV5-hFVIII-SQ Gene Therapy for Hemophilia A. N Engl J Med [Internet]. 2 de enero de 2020 [citado 16 de abril de 2023];382(1):29-40. Disponible en: https://www.nejm.org/doi/10.1056/NEJMoa1908490
George LA, Monahan PE, Eyster ME, Sullivan SK, Ragni MV, Croteau SE, et al. Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A. N Engl J Med [Internet]. 18 de noviembre de 2021 [citado 9 de abril de 2023];385(21):1961-73. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8672712/
Konkle BA, Walsh CE, Escobar MA, Josephson NC, Young G, von Drygalski A, et al. BAX 335 hemophilia B gene therapy clinical trial results: potential impact of CpG sequences on gene expression. Blood [Internet]. 11 de febrero de 2021 [citado 16 de abril de 2023];137(6):763-74. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885820/
Ozelo MC, Mahlangu J, Pasi KJ, Giermasz A, Leavitt AD, Laffan M, et al. Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A. N Engl J Med [Internet]. 17 de marzo de 2022 [citado 9 de abril de 2023];386(11):1013-25. Disponible en: http://www.nejm.org/doi/10.1056/NEJMoa2113708
Xue F, Li H, Wu X, Liu W, Zhang F, Tang D, 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. The Lancet Haematology [Internet]. 1 de julio de 2022 [citado 9 de abril de 2023];9(7):e504-13. Disponible en: https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(22)00113-2/fulltext
Von Drygalski A MD, Gomez E, Giermasz A, Castaman G, Key NS, Lattimore SS, et al. Stable and durable factor IX levels in hemophilia B patients over 3 years post etranacogene dezaparvovec gene therapy. Blood Advances [Internet]. 9 de diciembre de 2022 [citado 16 de abril de 2023];bloodadvances.2022008886. Disponible en: https://doi.org/10.1182/bloodadvances.2022008886
Chowdary P, Shapiro S, Makris M, Evans G, Boyce S, Talks K, et al. Phase 1–2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B. N Engl J Med [Internet]. 21 de julio de 2022 [citado 22 de abril de 2023];387(3):237-47. Disponible en: http://www.nejm.org/doi/10.1056/NEJMoa2119913
Li C, Samulski RJ. Engineering adeno-associated virus vectors for gene therapy. Nat Rev Genet [Internet]. abril de 2020 [citado 9 de abril de 2023];21(4):255-72. Disponible en: https://www.nature.com/articles/s41576-019-0205-4
Garrison LP, Pezalla E, Towse A, Yang H, Faust E, Wu EQ, et al. Hemophilia Gene Therapy Value Assessment: Methodological Challenges and Recommendations. Value in Health [Internet]. 1 de noviembre de 2021 [citado 15 de noviembre de 2022];24(11):1628-33. Disponible en: https://www.valueinhealthjournal.com/article/S1098-3015(21)01583-7/fulltext?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1098301521015837%3Fshowall%3Dtrue
Blair HA. Valoctocogene Roxaparvovec: First Approval. Drugs [Internet]. 1 de septiembre de 2022 [citado 10 de abril de 2023];82(14):1505-10. Disponible en: https://doi.org/10.1007/s40265-022-01788-y
Rodríguez-Merchán EC, De Pablo-Moreno JA, Liras A. Gene Therapy in Hemophilia: Recent Advances. Int J Mol Sci [Internet]. 17 de julio de 2021 [citado 15 de noviembre de 2022];22(14):7647. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306493/
Shah J, Kim H, Sivamurthy K, Monahan PE, Fries M. Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B. Current Medical Research and Opinion [Internet]. 1 de febrero de 2023 [citado 10 de abril de 2023];39(2):227-37. Disponible en: https://doi.org/10.1080/03007995.2022.2133492
Arruda VR. Why is AAV FVIII gene therapy not approved by the US Food and Drug Administration yet? Blood Advances [Internet]. 26 de octubre de 2021 [citado 3 de mayo de 2023];5(20):4313. Disponible en: https://doi.org/10.1182/bloodadvances.2021004760
Chen X, Niu X, Liu Y, Zheng R, Yang L, Lu J, et al. Long-term correction of hemophilia B through CRISPR/Cas9 induced homology-independent targeted integration. Journal of Genetics and Genomics [Internet]. 1 de diciembre de 2022 [citado 10 de abril de 2023];49(12):1114-26. Disponible en: https://www.sciencedirect.com/science/article/pii/S167385272200159X
Lee JH, Han JP, Song DW, Lee GS, Choi BS, Kim M, et al. In vivo genome editing for hemophilia B therapy by the combination of rebalancing and therapeutic gene knockin using a viral and non-viral vector. Molecular Therapy - Nucleic Acids. 2023;32:161-72.
Doering CB, Denning G, Shields JE, Fine EJ, Parker ET, Srivastava A, et al. Preclinical Development of a Hematopoietic Stem and Progenitor Cell Bioengineered Factor VIII Lentiviral Vector Gene Therapy for Hemophilia A. Hum Gene Ther [Internet]. 1 de octubre de 2018 [citado 3 de mayo de 2023];29(10):1183-201. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196756/
Ten Ham RMT, Walker SM, Soares MO, Frederix GWJ, Leebeek FWG, Fischer K, et al. Modeling Benefits, Costs, and Affordability of a Novel Gene Therapy in Hemophilia A. Hemasphere [Internet]. 28 de enero de 2022 [citado 27 de mayo de 2023];6(2):e679. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8820916/
Agboola F, Rind DM, Walton SM, Herron-Smith S, Quach D, Pearson SD. The effectiveness and value of emicizumab and valoctocogene roxaparvovec for the management of hemophilia A without inhibitors. JMCP [Internet]. mayo de 2021 [citado 5 de junio de 2023];27(5):667-73. Disponible en: https://www.jmcp.org/doi/full/10.18553/jmcp.2021.27.5.667
Aguirre M, Castillo E, López D. Diagnóstico de materiales y lesiones en las fachadas del centro histórico de Cuenca (Ecuador). Ge-Conservación. 2020; 17(1): p. 47-63.
Guamán E, Castillo S, Dávalos Á, Moyano C. Epidemiología de endocarditis infecciosa en Ecuador durante el periodo 2016 - 2020. RevMICG. 2022; 3(5).