Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 37
- 试验地点
- 2
- 主要终点
- Analysis of retinal structure and function
研究概览
简要总结
MGT005 is a natural history study to collect longitudinal prospective data from patients with Leber Congenital Amaurosis associated with defects in RPE65.
详细描述
Leber Congenital Amaurosis (LCA) is a diagnosis for a group of severe, autosomal recessively inherited rod - cone dystrophies that typically result in complete visual loss in the third or fourth decade of life. One form, LCA2, is caused by a mutation in the gene encoding RPE56, an RPE-specific 65-kDa isomerase. Non-functional RPE65 results in photoreceptor cells that are unable to respond to light resulting in these patients being visually impaired.
In preparation for human clinical trials, a detailed prospective phenotypic study will be undertaken to investigate the natural history of RPE65-LCA. Such a study will help identify suitable patients for therapeutic intervention. Furthermore through greater phenotyping an optimal window for intervention and specific parameters to help quantify effect and identify clinical end points may have been ascertained .
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with RPE65 associated retinal dystrophy
- •Minimum subject age of 3 years
- •Able to give consent/parent or guardian able to give consent
排除标准
- •Patients unable or unwilling to undertake consent or clinical testing
- •Have received a gene therapy treatment in both eyes
结局指标
主要结局
Analysis of retinal structure and function
时间窗: 6 years
Retinal structure will be analysed using Adaptive optics and SD-OCT and Fundal autofluorescence. This will be correlated with assessment of visual acuity, psychophysical visual assessment, visual mobility, retinal sensitivity and visual fields
次要结局
- Quality of Life Questionnaires(6 years)
- Retinal Sensitivity(6 years)
- Retinal Structural analysis(6 years)
- Assessment of Visual Fields(6 years)
- Fundal Autofluorescence(6 years)