November 23, 2011 - Recognizing the great potential of gene therapy for saving and restoring vision, the Foundation Fighting Blindness is investing an unprecedented $8.25 million for six new gene therapy research projects, all of which are targeted to have treatments ready for clinical trials within three years. These grants are allocated through the Foundation’s Translational Research Acceleration Program, which funds research projects with strong, near-term clinical potential.
This focused drive to advance gene therapy will include funding potential treatments for: choroideremia, X-linked retinoschisis, retinitis pigmentosa (GUCYD2 mutations), two forms of Leber congenital amaurosis (GUCYD2 and RPGRIP1 mutations) and a nanoparticle gene delivery system that’s useful for treating diseases caused by larger genes.
It was just three years ago that the Foundation Fighting Blindness reported outstanding results from its first gene therapy clinical trials: Young adults with virtually no vision could, for the first time, read several lines on an eye chart and navigate in dimly lit settings. Since then, more than 40 patients taking part in gene therapy clinical trials to treat a form of Leber congenital amaurosis (LCA) have benefited from this remarkable emerging treatment.
The success of those first LCA studies set the stage for rapid expansion in gene therapy development. In fact, by the end of this year, there will be human studies of gene therapies underway for as many as five retinal diseases, including the aforementioned LCA, wet age-related macular degeneration (AMD), Stargardt disease, Usher syndrome type 1B and autosomal recessive retinitis pigmentosa caused by mutations in the MERTK gene. These studies are independent of the six newly funded projects.
Virtually all of the Foundation’s gene therapy work to date has focused on correcting specific genetic defects — replacing bad genes with healthy genes — that cause particular diseases. Through this new investment, some researchers are seeking less restrictive approaches to gene therapy that may apply to more than one disease.
“Gene therapy can do much more than we originally envisioned. We are now seeing it used to deliver vision-saving proteins, stop the growth of unhealthy blood vessels in wet AMD and even harness retinal cells other than photoreceptors for vision,” says the Foundation’s chief research officer, Dr. Stephen Rose. “These disease-independent initiatives have become an important part of our portfolio, because they can apply to people regardless of their defective gene.”
For example, the Foundation is funding a collaboration of The Institut de la Vision in Paris and the Friedrich Miescher Institute in Basel, Switzerland, which is developing a gene therapy to resurrect and reactivate cone cells that are compromised by a wide range of diseases.
In many inherited retinal conditions, including retinitis pigmentosa, cones stop working before they completely degenerate. The research team’s gene therapy revives degenerating cones, enabling them to regain their ability to respond to light and provide vision. The treatment also improves the health of cones and extends their lifespan significantly. Because cones provide central, daytime and detailed vision — enabling someone to drive, read or see the faces of loved ones — having the ability to resurrect them could mean a lot to someone who has a retinal disease.
With an increased investment in disease-independent treatments, like this one, coupled with numerous gene replacement therapies for specific diseases, the Foundation is building a strong gene therapy portfolio that may benefit people affected by a range of conditions.
2011年11月23日-认识的巨大潜力的基因治疗的保存和恢复视力，战胜失明基金会是一个前所未有的8250000美元投资六新基因治疗的研究项目，所有这些都是有针对性的治疗，准备进行临床试验三年内。这些赠款分配的基础的翻译研究加速程序，该基金的研究项目，具有很强的，短期的临床潜力。这集中驱动推进基因疗法将包括资金的潜在治疗：X -连锁视网膜，脉络膜，视网膜色素变性（gucyd2突变），2形式的莱伯先天性黑朦（gucyd2和rpgrip1突变）和纳米颗粒基因运载系统，用于治疗疾病所造成的较大的基因。它是在三年前，战胜失明基金会报告优异的成绩从第一个基因治疗临床试验：年轻的成年人几乎没有视觉，为第一时间，读了几行视力表上的定位在昏暗的设置。自那时以来，超过40的患者参加了基因治疗临床试验治疗的一种形式，莱伯先天性黑朦（生命周期）已经受益于这一引人注目的新兴治疗。成功的第一个生命周期分析研究奠定了迅速的扩张在基因治疗的发展。事实上，到今年年底，将会有人研究基因疗法进行了多达五个视网膜疾病，包括上述，湿年龄相关性黄斑变性（和），Stargard t病，亚瑟综合征型和常染色体隐性遗传性视网膜色素变性的突变所造成的mertk基因。这些研究是独立的六个新项目资助。几乎所有的基础上的基因治疗工作迄今重点纠正的具体遗传缺陷-更换坏基因与健康的基因，导致特定疾病。通过这一新的投资，一些研究人员正在寻找较少限制的基因治疗方法可能适用于一个以上的疾病。“基因疗法可以做更多比我们最初设想。现在我们看到的是用于提供vision-saving蛋白质，停止生长不良血管湿热潮，甚至利用视网膜细胞以外的光感受器的视觉，说：”基金会的首席研究员，博士史蒂芬玫瑰。“这些独立的倡议已成为一个重要的部分我们的组合，因为它们可以适用于人，不论其有缺陷的基因。”例如，基金会资助合作研究所统计的设想在巴黎和弗里德里希米歇尔学院在巴塞尔，瑞士，这是发展基因治疗恢复和恢复锥细胞受到各种疾病。在许多遗传性视网膜疾病，包括视网膜色素变性，锥停止工作之前，他们完全退化。研究小组的基因治疗恢复退化锥，使他们能够恢复他们的反应能力和提供视觉。治疗也提高了健康和寿命延长的显着。因为视锥提供中央，白天和详细的视野-使人驾驶，读到或看到的面孔亲人-有能力让它们可能意味着很多人的视网膜疾病。与增加投资的独立处理，像这一条，加上大量的基因替代疗法对特定疾病的基础，是建设一个强大的基因疗法的组合，可能受益的人受各种条件。 |
