Revere Karen E, Chung Daniel C
F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Discov Med. 2009 Oct;8(42):125-9.
Gene therapy for inherited retinal degeneration has made major advances toward the ultimate goal of reversing blindness in human patients. With significant advances in recombinant viral vector design, safety and efficacy profiles have greatly improved. Although these recent advances have been applied to many different retinal diseases, one retinal degenerative disease, Leber congenital amaurosis, appears to have the greatest potential for reversing blindness. In pre-clinical animal studies, gene therapy for Leber congenital amaurosis has demonstrated visual recovery. Recently, in landmark clinical trials, preliminary results have indicated safety and efficacy for the use of gene therapy in Leber congenital amaurosis, thus laying the foundation for continued use of gene therapy in other forms of inherited blinding disease.
针对遗传性视网膜变性的基因治疗在实现逆转人类患者失明这一最终目标方面取得了重大进展。随着重组病毒载体设计的显著进步，安全性和有效性方面有了极大改善。尽管这些最新进展已应用于许多不同的视网膜疾病，但有一种视网膜退行性疾病——莱伯先天性黑蒙，似乎在逆转失明方面具有最大潜力。在临床前动物研究中，针对莱伯先天性黑蒙的基因治疗已证明可实现视力恢复。最近，在具有里程碑意义的临床试验中，初步结果表明基因治疗用于莱伯先天性黑蒙具有安全性和有效性，从而为在其他形式的遗传性致盲疾病中继续使用基因治疗奠定了基础。
