Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 9
- 试验地点
- 2
- 主要终点
- The drug safety evaluation after administration
研究概览
简要总结
The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 6 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Mutations that code for abnormal RPE65 protein
- •Presence of characteristic abnormalities in fundus
- •Dramatic reduction of both rods ans cones ERG responses
- •Low visual acuity <0.32
- •inform consent signed
排除标准
- •Patients with chronic conditions such a haematological, cardiac, renal diseases
- •Patients with, within the past 6 months, a clinically significant cardiac disease or known congestive heart failure, cardiac rhytm and conduction abnormalities
- •Patients with pulmonaty dysfunction
- •Patients with suspected rheumatoid arthritis
- •Patients with current systemic infection........
研究组 & 干预措施
rAAV2/4.hRPE65
3 cohortes of 3 patients each.
All the patients enrolled in the study will receive a single subretinal injection in one eye. The eye, that will be injected, will be the eye with the poorest visual acuity.
干预措施: rAAV2/4.hRPE65 (Drug)
结局指标
主要结局
The drug safety evaluation after administration
时间窗: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days
Biodistribution : Urine sampling and nasal secretion will be collected at several time points after administration of the gene therapy product during all the duration of hospital stay, an average of 7 days.
次要结局
- Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients(Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360)