刚看抗盲基金会网站消息，虽然并未能成为现实治疗手段，但研究方面取得较大进展也令人看到一线曙光，只是不解X-line RP何解？暂只能提供英文和网页翻译版本，见谅。
组织使得在诊治的X -连锁RP的发展方面大步前进
经过三年的深入研究在多个方面来，由基金会资助的一个财团失明战斗报告在视觉的节省治疗的X -连锁视网膜色素变性（XLRP）的开发取得重大进展。
“X -连锁RP是一个特别积极的视网膜变性疾病，并在同一时间，也是比较普遍。 因此，需要采取强有力的行动，“斯蒂芬•罗斯博士说，研究总监，基金战斗的盲目性。 “通过建立联盟，我们能够作为一个团队协作，以确定治疗的机会，然后应用在开发他们全场紧逼。 该战略得到了回报了。“
该XLRP财团的重点是努力在多基因治疗方法，以及作为蛋白质为基础的治疗，抑制视网膜细胞死亡。 该小组还表演自然史的研究，以更好地了解XLRP进展，以及潜在的治疗是如何工作的。 基因疗法是沿着XLRP发展最远可进入临床试验和内移动未来两到三年。
罗斯博士说，该财团调查人员能够利用其他视网膜条件，包括基因治疗是莱伯先天性黑朦与恢复（LCA）的视力儿童和青年***临床试验的研究成果。
让贝内特博士，对LCA的基因治疗则是费城儿童医院的临床试验主要研究者，是实现在XLRP基因疗法，它使用同样的基因传递技术的临床前研究优秀成果 - 腺相关病毒（自动增值服务） - 用于LCA的审判。
基因疗法是一个有吸引力的方法治疗XLRP，因为百分之70-80 XLRP案件是由单个基因称为RPGR引起的。 换言之，一RPGR基因疗法有可能帮助70-80所有民众与XLRP。
在交付RPGR基因对视网膜的挑战之一是它的大小。 由于基因去，这是相当大。 为了克服这种限制，博士威廉Hauswirth的佛罗里达大学正在开发一种XLRP基因治疗，提供了一个地区的开放阅读框的RPGR - 15已知的视网膜。 的ORF - 15是其中的致病变异通常发生在RPGR。 他也获得了优异的成绩在临床前研究。
在另一个研究前沿，博士。 大卫扎克和Debra汤普森在密歇根大学进行的是所谓的凋亡抑制蛋白（XIAP的）X -连锁抑制剂，以减缓或停止从XLRP视力减退的一种蛋白质的临床前实验。 研究人员表明，XIAP的减缓视网膜细胞死亡和临床前测试的视力丧失。
功能和结构的视网膜的评价是至关重要的这些不同XLRP治疗的发展。 约翰Heckenlively博士在密歇根，领先的视网膜医生，大学是一所既视网膜进行检查和测试，测量视网膜活动的专家。 他将帮助研究人员了解以及新兴的治疗方法在实验室和临床研究均工作。
罗斯博士指出，虽然该财团在XLRP，知识和学习到了未来的目标是相关的一大范围的视网膜条件。 “该联盟受益匪浅的知识在LCA的临床试验和其他交叉的研究经验，我知道其他研究小组正在看正在XLRP提出了非常密切的进步，”他说。
The X-Link Factor
Consortium Makes Major Strides in the Development of Treatments for X-Linked RP
After three years of intensive research on multiple fronts, a consortium funded by the Foundation Fighting Blindness is reporting significant progress in the development of vision-saving treatments for X-linked retinitis pigmentosa (XLRP).
“X-linked RP is a particularly aggressive retinal degenerative disease, and at the same time, is relatively prevalent. So the need to take action is strong,” says Dr. Stephen Rose, chief research officer, Foundation Fighting Blindness. “By establishing the consortium, we are able to collaborate as a team to identify treatment opportunities and then apply a full court press in developing them. The strategy has paid off well.”
The XLRP consortium is focusing its efforts on multiple gene therapy approaches, as well as a protein-based treatment that inhibits retinal cell death. The team is also performing natural history studies to better understand the progression of XLRP and how well potential treatments are working. Gene therapy for XLRP is furthest along in development and could move into clinical trials within the next two to three years.
Dr. Rose says that consortium investigators have been able to leverage the research successes for other retinal conditions, including gene therapy clinical trials that are restoring vision in children and young adults with Leber congenital amaurosis (LCA).
Dr. Jean Bennett, the lead investigator for the LCA gene therapy clinical trial at The Children’s Hospital of Philadelphia, is achieving excellent results in preclinical studies of XLRP gene therapy, which uses the same gene delivery technology — adeno-associated viruses (AAVs) — used in the LCA trial.
Gene therapy is an attractive approach to treating XLRP, because 70-80 percent of XLRP cases are caused by a single gene called RPGR. In other words, an RPGR gene therapy could potentially help 70-80 percent of all people with XLRP.
One of the challenges in delivering the RPGR gene to the retina is its size. As genes go, it is rather large. To overcome that limitation, Dr. William Hauswirth of the University of Florida is developing an XLRP gene therapy that delivers a region of RPGR known as ORF-15 to the retina. ORF-15 is where disease-causing variations in RPGR commonly occur. He, too, has obtained excellent results in preclinical studies.
On another research front, Drs. David Zack and Debra Thompson at the University of Michigan are conducting preclinical experiments of a protein called X-linked Inhibitor of Apoptosis Protein (XIAP) to slow or halt vision loss from XLRP. The investigators have shown that XIAP slows retinal cell death and loss of vision in preclinical testing.
Functional and structural evaluation of the retina is critical to the development of these various XLRP treatments. Dr. John Heckenlively at the University of Michigan, a leading retinal physician, is an expert in conducting both retinal examinations and tests that measure retinal activity. He will help investigators understand how well emerging treatments are working in both lab and clinical studies.
Dr. Rose notes that while the consortium is aiming at XLRP, the knowledge coming into and out of their studies is relevant to a wide range of retinal conditions. “The consortium has benefited greatly from the knowledge gained in the LCA clinical trials and other cross-cutting studies, and I know other research groups are watching the progress being made in XLRP very closely,” he says. |
