PHASE I TRIAL OF OCULAR SUBRETINAL INJECTION OF A RAAV2-CB - HRPE65

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 重组腺相关病毒血清型2 rAAV 2载体已被改变以携带人RPE 65 hRPE 65基因。这种载体已被证明可以恢复动物模型中的视力，这些动物模型类似于人类RPE 65相关的Leber先天性黑蒙LCA，这是一种导致严重视力丧失的无法治愈的视网膜变性。所提出的研究是向患有RPE 65相关视网膜疾病的个体施用视网膜下rAAV 2-CBSB-hRPE 65的开放标签I期临床试验。本试验将包括两个队列，每个队列3例受试者。两个群组将接受相同剂量的rAAV 2-CBSB-hRPE 65。 队列1将由18岁及以上的个体组成，队列2将由8至17岁的个体组成。队列2中的招募将仅在确认rAAV 2-CBSB-hRPE 65施用在老年组参与者中的安全性之后开始。这项试验将使人们更好地了解基因转移在RPE 65相关视网膜疾病中的安全性和潜在价值，并将对其他形式的视网膜退行性疾病产生影响，这些疾病适合这种类型的干预。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. A recombinant adeno-associated virus serotype 2 rAAV2 vector has been altered to carry the human RPE65 hRPE65 gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber congenital amaurosis LCA, an incurable retinal degeneration that causes severe vision loss. The proposed study is an open label, Phase I clinical trial of subretinal rAAV2-CBSB-hRPE65 administration to individuals with RPE65-associated retinal disease. Two cohorts of three subjects each will be included in this trial. Both cohorts will receive the same dose of rAAV2-CBSB-hRPE65 . Cohort 1 will consist of individuals 18 years of age and older and Cohort 2 will consist of individuals between the ages of 8 and 17. Enrollment in Cohort 2 will begin only after confirming the safety of rAAV2-CBSB-hRPE65 administration in the older group of participants. This trial will lead to a greater understanding of the safety and thereby potential value of gene transfer in RPE65-associated retinal disease and will have implications for other forms of retinal degenerative disease amenable to this type of intervention.