CAJ | 학술논문

Leber先天性黑矇(LCA)是一种严重的先天性致肓遗传性视网膜疾病.近1O年来,随着分子遗传学的发展及基因治疗技术的进步,以腺相关病毒载体介导的LCA基因治疗研究取得了令人鼓舞的进展,尤其是对LCAⅡ患者进行的RPE65基因治疗的Ⅰ期临床试验的成功使其成为眼科遗传性疾病基因治疗领域中的先行者,为今后进行其他遗传性视网膜疾病的基因治疗开辟了光明的前景.本文就目前LCA基因治疗的临床前研究及Ⅰ期临床试验的进展等方面作一综述.
Leber선천성흑몽(LCA)시일충엄중적선천성치황유전성시망막질병.근1O년래,수착분자유전학적발전급기인치료기술적진보,이선상관병독재체개도적LCA기인치료연구취득료령인고무적진전,우기시대LCAⅡ환자진행적RPE65기인치료적Ⅰ기림상시험적성공사기성위안과유전성질병기인치료영역중적선행자,위금후진행기타유전성시망막질병적기인치료개벽료광명적전경.본문취목전LCA기인치료적림상전연구급Ⅰ기림상시험적진전등방면작일종술.
Leber congenital amaurosis (LCA)is an early onset retinal dystrophy that causes severe visual impairment. With the development of molecular genetics and the therapeutic gene replacement technology, the adeno-associated viral (AAV) vector-mediated gene therapy for LCA achieved encouraging progress in the past decade. The success of the Phase Ⅰ clinical trials of human RPE65 gene therapy for LCA Ⅱ patients makes it a pioneer in the field of retinal gene therapy and brings light to the cure of other hereditary retinopathy. This article briefly reviews the recent developments in the preclinical animal experiments and Phase Ⅰ clinical trials for LCA.