Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 400
- 试验地点
- 4
- 主要终点
- 5-year natural history of Usher syndrome
研究概览
简要总结
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
详细描述
Our cohort study aims at precisely documenting ophthalmic, auditory, vestibular, cogninitive alterations over time with phenotype/genotype correlation Ophthalmological assessment; Best corrected visual acuity, kynetic perimetry, microperimetry, colour contrast sensitivity, retinal multimodal imaging (fundus photograph, fundus autofluorescence, SD-OCT, OCTA, adaptive optics)
ENT assessment:
Tone and voice audiometry, Distortion product otoacoustic emissions Language assessment for children
Vestibular assessment:
Complete assessment of vestibular, canal and otolithic function Neuro-cognitive and visio spatial assessment Genetic: deep-genotyping using next generation sequencing
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with a molecular diagnosis of Usher syndrome type I, II or III or a clinical diagnosis of Usher syndrome type I, II or III which will then be confirmed by a molecular diagnosis
- •Health insurance beneficiary
- •Informed consent signed by the patient or their legal representatives
排除标准
- •Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained
结局指标
主要结局
5-year natural history of Usher syndrome
时间窗: From date of inclusion until the date of last documented progression , assessed up to 5 years
Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters
次要结局
未报告次要终点