Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 130
- 试验地点
- 2
- 主要终点
- Changes in visual acuity
研究概览
简要总结
This study is aimed to characterize Russian population of Retinitis Pigmentosa
详细描述
This study is aimed to characterize Russian population of Retinitis Pigmentosa.
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 and from references. Patients with clinically confirmed Retinitis pigmentosa will be evaluated according to available data of the clinical examination.
Stage 2. Genetic study of patients. All enrolled patients will undergo single 4 ml peripheral venous blood sampling. DNA will be extracted from leucocytes. DNA samples will be analyzed and placed for long-term storage in liquid nitrogen. Stage 3. 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
- 6 Years 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient fulfill the clinical characteristics for Retinitis Pigmentosa (AD, AR, X-linked, sporadic) as defined by the Retinitis pigmentosa consortium
- •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
- •Congenital multiple development orbit and eye malformations
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 visual acuity
时间窗: Up to 4 weeks
Measured by visual acuity test
Changes in structures of fundus of the eye-1
时间窗: Up to 4 weeks
Measured by ophthalmoscopy
Changes in visual field
时间窗: Up to 4 weeks
Measured by perimetry
Changes in brain visual cortex neural pathways
时间窗: Up to 4 weeks
Measured by visually evoked potentials
Changes in the lens, cornea, anterior segment of the eye
时间窗: Up to 4 weeks
Measured by biomicroscopy
Changes in electroretinogram
时间窗: Up to 4 weeks
Measured by electroretinography
Changes in structures of fundus of the eye-2
时间窗: Up to 4 weeks
Measured by ophthalmoscopy
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 central retinal profile
时间窗: Up to 4 weeks
Measured by optical coherent tomography
次要结局
未报告次要终点