Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 2
- 主要终点
- Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
研究概览
简要总结
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.
详细描述
The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •affiliated with or entitled to a social security scheme
- •Consent form to participate in the study signed
- •with an FECD certified by slit lamp examination
- •requiring an endothelial keratoplasty
排除标准
- •- Patients under guardianship or curators
研究组 & 干预措施
Patients with FECD
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
干预措施: Genotyping (Genetic)
Patients with FECD
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
干预措施: Histology (Diagnostic Test)
Patients with FECD
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
干预措施: Collection of data (Other)
结局指标
主要结局
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
时间窗: At inclusion
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
次要结局
- Corneal thickness in Optical Coherence Tomography (OCT)(At inclusion)
- Refraction with the auto-refractor tonometry(At inclusion)
- ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)(At inclusion)
- Diameter of the dilated pupil (mm)(At inclusion)
- Endothelial cell density measurement (cells/mm2)(Immediately after surgery of corneal transplantation")
- Thickness of the lens (mm)(At inclusion)
- Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.(At inclusion)
- Depth of the anterior chamber (mm)(At inclusion)
- Family cases of Fuchs' Corneal Endothelial Dystrophy(At inclusion)
- Crystalline analysis(Immediately after surgery of corneal transplantation")