本帖最后由 凤凰涅盘 于 2012-8-10 11:42 编辑
2012年8月9日 -法国研究人员成功利用基因疗法在犬模型在基因PDE6β缺陷造成的常染色体隐性遗传性视网膜色素变性（ARRP）保存的愿景。推进开展的临床试验治疗的与ARRP相同形式的人是关键的一步。“PDE6β的基因治疗研究的结果发表在该杂志的网络版，2012年07月24日分子疗法。在这两种最初，人与动物，PDE6β缺陷导致损失的棒，在视网膜细胞提供周边视力和在黑暗环境中能够看到。但随着时间的推移，在棒的退化导致损失的视锥细胞，提供中央和白天视力的视网膜细胞。通过与的PDE6β基因疗法治疗棒，研究人员希望能完全防止视力减退。在他们最近的研究中，研究人员注入了一小滴液体，含有治疗受影响犬的视网膜下方。该疗法包括健康的副本PDE6β，其中人类工程腺相关病毒，腺相关病毒插入。腺相关病毒穿透视网膜细胞的交付的治疗PDE6β基因副本。自动增值服务是目前正在使用基因疗法的临床试验莱伯先天性黑朦（因为RPE65缺陷），ARRP（MERTK缺陷）和湿性年龄相关性黄斑变性的基因传递技术，行为和视网膜的敏感性试验表明，保存的PDE6β基因治疗为18个月的犬眼睛的视力。研究者指出，对待动物，需要一个较长时间的监测，以验证为人类治疗的适 用性。博士 fabienne滚动轴承，该研究报告的从铅研究员（INSERM） ，南特政府研究机构，法国，说，她和她的同事们都开始规划确定病人可能适合1未来的临床试验的过程。“这是非常令人兴奋的工作，说：“斯蒂芬·罗斯博士，首席研究人员，基金会战斗失明。“展现在一个大型的动物模型的安全性和有效性，定位为临床试验这支球队。
Emerging Recessive RP Gene Therapy Moves Closer to Human Study
August 9, 2012 – French researchers successfully used gene therapy to preserve vision in a canine model of autosomal recessive retinitis pigmentosa (arRP) caused by defects in the gene PDE6β. The advancement is a critical step forward in launching a clinical trial of the treatment for people with same form of arRP.
Results of the PDE6β gene therapy study were published on July 24, 2012, in the online edition of the journal Molecular Therapy.
In both people and animals, defects in PDE6β initially lead to loss of rods, the cells in the retina that provide peripheral vision and the ability to see in dark settings. But over time, degeneration in rods leads to loss of cones, the retinal cells that provide central and daytime vision. By treating rods with the PDE6β gene therapy, researchers hope to prevent vision loss entirely.
In their recent study, researchers injected a small drop of liquid containing the treatment underneath the retinas of the affected canines. The therapy consisted of healthy copies of PDE6β, which were inserted into a human-engineered adeno-associated virus, or AAV. The AAV penetrates retinal cells to deliver copies of the therapeutic PDE6β gene. AAVs are the gene delivery technology now being used in clinical trials of gene therapies for Leber congenital amaurosis (RPE65 defects), arRP (MERTK defects) and wet age-related macular degeneration.
Both behavioral and retinal sensitivity tests showed that the PDE6β gene therapy preserved vision for 18 months in canine eyes. The investigators note that the treated animals need to be monitored for a longer period of time to verify the therapy’s suitability for humans.
Dr. Fabienne Rolling, the study’s lead investigator from INSERM, a government-based research institution in Nantes, France, says that she and her colleagues are beginning to plan the process for identifying patients who may be suitable for a future clinical trial.
“This is very exciting work,” says Dr. Stephen Rose, chief research officer, Foundation Fighting Blindness. “Demonstrating safety and effectiveness in a large animal model positions this team well for a clinical trial.”
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