References
[1]. Richter T., Nestler-Parr S., Babela R., et al., Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group [J]. Value Health, 18(6):906-914 (2015).
[2]. Yiting Gui, Qiang Li, Yonghao Gui, Application and prospect of gene therapy for rare diseases [J] Clin Pediatr, Vol.38, No.10, October, pp.794-798 (2020).
[3]. Yuhuan Li, Wei Li, Advances in Gene Therapy for Rare Diseases [J] Journal of Rare And Uncommon Diseases, March, Vol.30, No.3, Total No.164, pp.109-112 (2023).
[4]. Guoqing Liu, Yitong Xu, Xunde Xian, Chinese Journal of Medicinal Guide, Vol25, No 1, Total No.231, pp.9-12 (2023).
[5]. [5] Caihong He, Wanzi Jiang, Liwen Zhang, Meihua Ruan, Hongwen Zhou, Jianrong Yu, Current status and future perspectives of rare disease research, Hereditas (Beijing), June, 43(6): 531-544 (2021).
[6]. Atchison R.W., Casto B.C., Hammon W.M., Adenovirus-associated Defective Virus Particles [J]. Science, 149(3685):754-756 (1965).
[7]. Shi Tong, Jizong Li, Shanghai Center of Biomedicine Development, Journal of Pharmaceutical Practice, Vol. 40, No. 4, July 25, pp.296-313 (2022).
[8]. Foldvari M., Chen D. W., Nafissi N., et al. Non-viral gene therapy: gains and challenges of non-invasive administration methods [J]. J Control Release, 240: 165-190 (2016).
[9]. Haowei1 Min, Fei1 Wang, Zhaoyun Jiang, Fenglong Sun, et al., Gene therapy in the neighborhood of rare diseases: research advances [J] J Int Pharm Res, Vol.44, No.2, February (2017).
[10]. Ponder K.P., Hemophilia gene therapy: a Holy Grail found [J] Mol Ther, 19(3): 427-428 (2011).
[11]. Matrai J., Chuah M.K., VandenDriessche T., Preclinical and clinical progress in hemophilia gene therapy [J]. Curr Opin Hema⁃ tol, 17(5): 387-392 (2010).
[12]. Qiang Wang, Lin Zhang, Saijuan Chen, Gene therapy:current status and prospects,China Basic Science, (4), pp.21-27 (2017).
[13]. Leone P., Shera D., McPhee S.W., et al., Long-term follow-up after gene therapy for canavan disease [J]. Sci. Transl. Med., 4(165):165ra163 (2012).
[14]. Chien Y.H., Lee N.C., Tseng SH, et al., Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial [J]. The Lancet. Child & adolescent health, 1(4):265-273 (2017).
[15]. Rodrigues G.A., Shalaev E., Karami T.K., et al., Pharmaceutical Development of AAV-Based Gene Therapy Products for the Eye [J]. Pharm. Res., 36(2):29 (2018).
[16]. Bainbridge J.W., Smith A.J., Barker S.S., et al., Effect of gene therapy on visual function in Leber's congenital amaurosis [J]. N. Engl. J. Med., 358(21):2231-2239 (2008).
[17]. Maguire A.M., Simonelli F., Pierce E.A., et al., Safety and efficacy of gene transfer for Leber's congenital amaurosis [J]. N. Engl. J. Med., 358(21):2240-2248 (2008).
[18]. Naldini L., Medicine. A comeback for gene therapy [J]. Science, 326(5954):805-806 (2009).
[19]. Russell S., Bennett J., Wellman J.A., et al., Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial [J]. Lancet, 390(10097):849-860 (2017).
[20]. Bainbridge J.W., Mehat M.S., Sundaram V., et al., Long-term effect of gene therapy on Leber's congenital amaurosis [J]. N. Engl. J. Med., 372(20):1887-1897 (2015).
[21]. Jacobson S.G., Cideciyan A.V., Roman A.J., et al., Improvement and decline in vision with gene therapy in childhood blindness [J]. N. Engl. J. Med., 372(20):1920-1926 (2015).
[22]. Cideciyan A.V., Jacobson S.G., Beltran W.A., et al., Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement [J]. Proc. Natl. Acad. Sci. U. S. A., 110(6): E517-525 (2013).
[23]. Mendell J.R., Al-Zaidy S., Shell R., et al., Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy [J]. N. Engl. J. Med., 377(18):1713-1722 (2017).
[24]. Duan D., Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy [J]. Mol. Ther., 26(10):2337-2356 (2018).
[25]. Qin X. F., An D. S., Chen S. Y., et al. Inhibiting HIV-1 infection in human T cells by lentiviral-mediated delivery of small interfering RNA against CCR5 [J]. Proceedings of the National Academy of Sciences, 100(1): 183-188 (2003).
Cite this article
Huang,G. (2023). Current situation and future of gene therapy for rare diseases. Theoretical and Natural Science,21,284-290.
Data availability
The datasets used and/or analyzed during the current study will be available from the authors upon reasonable request.
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References
[1]. Richter T., Nestler-Parr S., Babela R., et al., Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group [J]. Value Health, 18(6):906-914 (2015).
[2]. Yiting Gui, Qiang Li, Yonghao Gui, Application and prospect of gene therapy for rare diseases [J] Clin Pediatr, Vol.38, No.10, October, pp.794-798 (2020).
[3]. Yuhuan Li, Wei Li, Advances in Gene Therapy for Rare Diseases [J] Journal of Rare And Uncommon Diseases, March, Vol.30, No.3, Total No.164, pp.109-112 (2023).
[4]. Guoqing Liu, Yitong Xu, Xunde Xian, Chinese Journal of Medicinal Guide, Vol25, No 1, Total No.231, pp.9-12 (2023).
[5]. [5] Caihong He, Wanzi Jiang, Liwen Zhang, Meihua Ruan, Hongwen Zhou, Jianrong Yu, Current status and future perspectives of rare disease research, Hereditas (Beijing), June, 43(6): 531-544 (2021).
[6]. Atchison R.W., Casto B.C., Hammon W.M., Adenovirus-associated Defective Virus Particles [J]. Science, 149(3685):754-756 (1965).
[7]. Shi Tong, Jizong Li, Shanghai Center of Biomedicine Development, Journal of Pharmaceutical Practice, Vol. 40, No. 4, July 25, pp.296-313 (2022).
[8]. Foldvari M., Chen D. W., Nafissi N., et al. Non-viral gene therapy: gains and challenges of non-invasive administration methods [J]. J Control Release, 240: 165-190 (2016).
[9]. Haowei1 Min, Fei1 Wang, Zhaoyun Jiang, Fenglong Sun, et al., Gene therapy in the neighborhood of rare diseases: research advances [J] J Int Pharm Res, Vol.44, No.2, February (2017).
[10]. Ponder K.P., Hemophilia gene therapy: a Holy Grail found [J] Mol Ther, 19(3): 427-428 (2011).
[11]. Matrai J., Chuah M.K., VandenDriessche T., Preclinical and clinical progress in hemophilia gene therapy [J]. Curr Opin Hema⁃ tol, 17(5): 387-392 (2010).
[12]. Qiang Wang, Lin Zhang, Saijuan Chen, Gene therapy:current status and prospects,China Basic Science, (4), pp.21-27 (2017).
[13]. Leone P., Shera D., McPhee S.W., et al., Long-term follow-up after gene therapy for canavan disease [J]. Sci. Transl. Med., 4(165):165ra163 (2012).
[14]. Chien Y.H., Lee N.C., Tseng SH, et al., Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial [J]. The Lancet. Child & adolescent health, 1(4):265-273 (2017).
[15]. Rodrigues G.A., Shalaev E., Karami T.K., et al., Pharmaceutical Development of AAV-Based Gene Therapy Products for the Eye [J]. Pharm. Res., 36(2):29 (2018).
[16]. Bainbridge J.W., Smith A.J., Barker S.S., et al., Effect of gene therapy on visual function in Leber's congenital amaurosis [J]. N. Engl. J. Med., 358(21):2231-2239 (2008).
[17]. Maguire A.M., Simonelli F., Pierce E.A., et al., Safety and efficacy of gene transfer for Leber's congenital amaurosis [J]. N. Engl. J. Med., 358(21):2240-2248 (2008).
[18]. Naldini L., Medicine. A comeback for gene therapy [J]. Science, 326(5954):805-806 (2009).
[19]. Russell S., Bennett J., Wellman J.A., et al., Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial [J]. Lancet, 390(10097):849-860 (2017).
[20]. Bainbridge J.W., Mehat M.S., Sundaram V., et al., Long-term effect of gene therapy on Leber's congenital amaurosis [J]. N. Engl. J. Med., 372(20):1887-1897 (2015).
[21]. Jacobson S.G., Cideciyan A.V., Roman A.J., et al., Improvement and decline in vision with gene therapy in childhood blindness [J]. N. Engl. J. Med., 372(20):1920-1926 (2015).
[22]. Cideciyan A.V., Jacobson S.G., Beltran W.A., et al., Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement [J]. Proc. Natl. Acad. Sci. U. S. A., 110(6): E517-525 (2013).
[23]. Mendell J.R., Al-Zaidy S., Shell R., et al., Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy [J]. N. Engl. J. Med., 377(18):1713-1722 (2017).
[24]. Duan D., Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy [J]. Mol. Ther., 26(10):2337-2356 (2018).
[25]. Qin X. F., An D. S., Chen S. Y., et al. Inhibiting HIV-1 infection in human T cells by lentiviral-mediated delivery of small interfering RNA against CCR5 [J]. Proceedings of the National Academy of Sciences, 100(1): 183-188 (2003).