Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 28
- 试验地点
- 6
- 主要终点
- Changes in structures of fundus of the eye-2
研究概览
简要总结
This study is aimed to characterize Russian population of Usher patients.
详细描述
This study is aimed to characterize Russian population of Usher patients.
Tasks:
Stage 1. Formation of the primary cohort of patients. Patients pre-recruiting will be performed based on Deaf-Blind Support Foundation "Con-nection" patient database analysis. Patients with clinically confirmed Usher syndrome will be evaluated according to available data of the clinical examination.
Stage 2. Clinical examination of patients.
Each patient will undergo the following diagnostic procedures according to the unified protocol:
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 65 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient fulfill the clinical characteristics for Usher syndrome type I, II or III as defined by the Usher syndrome consortium
- •According to the results of audiometry, hearing loss is moderate or severe (level of acoustic threshold of audibility is 41 decibel and higher).
- •Results of perimetry for each eye show narrowing for 15 degrees or more.
- •Patient is familiar with Participant information sheet
- •Patient signed informed consent form
- •Non-inclusion Criteria:
- •Participation in other clinical trials (or administration of investigational drugs) during 3 months prior inclusion
- •Any conditions limiting compliance (dementia, neuropsychiatric disease, drug and alcohol abuse etc.)
- •Medical history of traumatic injury of eyes, barotrauma, concussion, craniocerebral trauma, cerebrovascular accident
排除标准
- •Patient's refusal from the further participation in the trial
- •Decompensated diabetes mellitus
- •Severe coronary artery disease
- •Chronic infectious disease
- •Patients with malignant tumors including postoperative period, patients receiving chemotherapy and/or radiotherapy
结局指标
主要结局
Changes in structures of fundus of the eye-2
时间窗: Up to 4 weeks
Measured by optical coherence tomography
Changes in visual field
时间窗: Up to 4 weeks
Measured by perimetry
Changes in retinal ganglion cell dysfunction
时间窗: Up to 4 weeks
Measured by electroretinography
Changes in brain visual cortex neural pathways
时间窗: Up to 4 weeks
Measured by visually evoked potentials
Changes in optical refraction
时间窗: Up to 4 weeks
Measured by refractometry
Changes in intraocular pressure
时间窗: Up to 4 weeks
Measured by pneumotonometry
Changes in the lens, cornea, anterior segment of the eye
时间窗: Up to 4 weeks
Measured by biomicroscopy
Changes in hearing-1
时间窗: Up to 4 weeks
Measured by tonal audiometry
Changes in hearing-2
时间窗: Up to 4 weeks
Measured by electronic audiometry (ASSR test)
Changes in efficient sound transmission in the middle ear
时间窗: Up to 4 weeks
Measured by acoustic impedance measurement
Changes in vestibular functions
时间窗: Up to 4 weeks
Measured by vestibulometry
Changes in vestibular reactions
时间窗: Up to 4 weeks
Measured by electronystagmography
Changes in visual acuity
时间窗: Up to 4 weeks
Measured by visometry
Changes in structures of fundus of the eye-1
时间窗: Up to 4 weeks
Measured by ophthalmoscopy
次要结局
未报告次要终点