Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
复制标题
光谱灵敏度测量显示基因治疗在恢复缺失的视杆细胞功能方面取得了部分成功。
DOI：
10.1167/15.15.20
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发表时间：
2015
影响因子：
1.8
通讯作者：
Ripamonti C
中科院分区：
文献类型：
--
作者：
Ripamonti C
基因治疗后杆状细胞视觉功能的恢复可以明确地证明，在适应黑暗后，光谱灵敏度具有杆状细胞的形状特征，并且在杆状细胞经过强烈漂白后恢复之前，这种形状会坍塌成圆锥形。我们使用这些测试来评估8名患有早发性严重视网膜营养不良的年轻成人和儿童的视网膜功能，这些患者来自一项RPE65缺乏症的临床基因治疗试验的II期，该试验涉及在视网膜下递送携带RPE65的重组腺相关病毒载体。我们发现两名参与者的杆状体灵敏度有了实质性的改善：治疗后，适应黑暗的光谱灵敏度是杆状的，在漂白剂后杆状体恢复之前是锥形的。经过40分钟的黑暗适应，一名参与者在治疗后4个月的敏感度提高了1000倍，另一名在治疗后6个月的敏感度提高了100倍。其他六名参与者的暗适应光谱灵敏度保持圆锥形，灵敏度几乎没有提高。
Restored rod visual function after gene therapy can be established unequivocally by demonstrating that, after dark adaptation, spectral sensitivity has the shape characteristic of rods and that this shape collapses to a cone-like shape before rods have recovered after an intense bleach. We used these tests to assess retinal function in eight young adults and children with early-onset severe retinal dystrophy from Phase II of a clinical gene-therapy trial for RPE65 deficiency that involved the subretinal delivery of a recombinant adeno-associated viral vector carrying RPE65. We found substantial improvements in rod sensitivity in two participants: dark-adapted spectral sensitivity was rod-like after treatment and was cone-like before rods had recovered after a bleach. After 40 min of dark adaptation, one participant showed up to 1,000-fold sensitivity improvements 4 months after treatment and the second up to 100-fold improvements 6 months after treatment. The dark-adapted spectral sensitivities of the other six participants remained cone-like and showed little improvement in sensitivity.
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影响因子：
4.2
作者：
Cideciyan, Artur V.;Hauswirth, William W.;Jacobson, Samuel G.
通讯作者：
Jacobson, Samuel G.
影响因子：
4.4
作者：
Bill X. Wu;G. Moiseyev;Ying Chen;B. Rohrer;R. Crouch;Jian-xing Ma
通讯作者：
Bill X. Wu;G. Moiseyev;Ying Chen;B. Rohrer;R. Crouch;Jian-xing Ma
影响因子：
4.8
作者：
Mata, NL;Moghrabi, WN;Travis, GH
通讯作者：
Travis, GH
影响因子：
--
作者：
Jacobson, Samuel G.;Cideciyan, Artur V.;Ratnakaram, Ramakrishna;Heon, Elise;Schwartz, Sharon B.;Roman, Alejandro J.;Peden, Marc C.;Aleman, Tomas S.;Boye, Sanford L.;Sumaroka, Alexander;Conlon, Thomas J.;Calcedo, Roberto;Pang, Ji-Jing;Erger, Kirsten E.;Olivares, Melani B.;Mullins, Cristina L.;Swider, Malgorzata;Kaushal, Shalesh;Feuer, William J.;Iannaccone, Alessandro;Fishman, Gerald A.;Stone, Edwin M.;Byrne, Barry J.;Hauswirth, William W.
通讯作者：
Hauswirth, William W.
影响因子：
5.1
作者：
Mowat, F. M.;Breuwer, A. R.;Ali, R. R.
通讯作者：
Ali, R. R.