NCT01954953Unknown不适用
European Research Projects on Rare Diseases Driven by Young Investigators
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts6 个研究点 分布在 4 个国家目标入组 100 人开始时间: 2013年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 100
- 试验地点
- 6
- 主要终点
- Genotype and phenotype correlations in Usher syndrome patients
研究概览
简要总结
This study aims to characterize Usher patients in order to correlate this data with genetic information.
Tasks:
- Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect.
- Perform genotype and phenotype correlations in Usher syndrome patients
- Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials
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
- 6 Months 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Genotype and phenotype correlations in Usher syndrome patients
时间窗: up to 3 years (2016)
Protocol outline: patients undergo clinical and molecular studies. These include extensive ophthalmologic (best corrected visual acuity, refraction, tonometry, color vision, visual field testing, pupillography\*, full-field electroretinogram, multifocal electroretinogram, autofluorescence imaging, optical coherence tomography, adaptive optics\*) examination, audiologic and vestibular evaluation and obtaining blood samples for genetic analysis. \*only if available
次要结局
未报告次要终点
研究者
研究点 (6)
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