Functional Study of Intronic Variants in Inherited Cone Disorders
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 7
- 试验地点
- 2
- 主要终点
- Effect of the intronic variant on RNA splicing observed in cellulo and/or on patient cells,
研究概览
简要总结
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants
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
- •clinical diagnosis of cone disorder
- •identification of a variant of unknown significance
- •possibility of samplings
- •informed consent
排除标准
- •no variant of unknown significance identified
- •no informed consent
结局指标
主要结局
Effect of the intronic variant on RNA splicing observed in cellulo and/or on patient cells,
时间窗: at 2 years
Analysis of RNA transcripts of the gene carrying a variant of unknown significance.
次要结局
- Effect of the intronic variant on RNA by analysis of patient RNA transcripts(at 2 years)
- Effect of the intronic variant on RNA by analysis of transcripts from lymphoblastoid lines(at 2 years)
- Effect of the intronic variant on RNA by Minigene splice assay in transient cell cultures(at 2 years)
- Effect of the intronic variant on RNA by analysis of transcripts from fibroblasts(at 2 years)
- Effect of the intronic variant on RNA by analysis of transcripts from IPSCs (induced pluripotent stem cells)(at 2 years)