Gene therapy in hemophilia: recent advances

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Rodríguez-Merchan, E. C. and De Pablo Moreno, Juan Andrés and Liras, Antonio (2021) Gene therapy in hemophilia: recent advances. International Journal of Molecular Sciences, 22 (14). pp. 1-20. ISSN 1661-6596, ESSN: 1422-0067

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Official URL: https://doi.org/10.3390/ijms22147647




Abstract

Hemophilia is a monogenic mutational disease affecting coagulation factor VIII or factor IX genes. The palliative treatment of choice is based on the use of safe and effective recombinant clotting factors. Advanced therapies will be curative, ensuring stable and durable concentrations of the defective circulating factor. Results have so far been encouraging in terms of levels and times of expression using mainly adeno-associated vectors. However, these therapies are associated with immunogenicity and hepatotoxicity. Optimizing the vector serotypes and the transgene (variants) will boost clotting efficacy, thus increasing the viability of these protocols. It is essential that both physicians and patients be informed about the potential benefits and risks of the new therapies, and a register of gene therapy patients be kept with information of the efficacy and long-term adverse events associated with the treatments administered. In the context of hemophilia, gene therapy may result in (particularly indirect) cost savings and in a more equitable allocation of treatments. In the case of hemophilia A, further research is needed into how to effectively package the large factor VIII gene into the vector; and in the case of hemophilia B, the priority should be to optimize both the vector serotype, reducing its immunogenicity and hepatotoxicity, and the transgene, boosting its clotting efficacy so as to minimize the amount of vector administered and decrease the incidence of adverse events without compromising the efficacy of the protein expressed.


Item Type:Article
Uncontrolled Keywords:Hemophilia; Advanced therapies; Gene therapy; FVIII transgene; FIX transgene; Adenoassociated virus; Lentiviral vectors
Subjects:Medical sciences > Medicine > Medical genetics
Medical sciences > Medicine > Hematology
ID Code:70934
Deposited On:03 Mar 2022 09:33
Last Modified:03 Mar 2022 11:28

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