A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 60
- 主要终点
- Clinical relevance of microRNAs in USH2A-RP
研究概览
简要总结
Aim of the study is to perform a non-invasive multimodal retinal imaging investigation in a cohort of patients affected by USH2A retinitis pigmentosa (USH2A-RP), in order to develop a new diagnostic paradigm to categorize clinically relevant subgroups. All the procedures will be performed according to normal clinical practice. In addition, a novel quantitative profiling of serum microRNAs will be carried out in order to analyze the clinical importance of microRNA biomarkers in the clinical setting of the disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 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
- 是
入选标准
- •age >18 years
- •genetically confirmed diagnosis of USH2A-RP
- •availability of genetic tests to assess the pathogenic variants
排除标准
- •inability to understand and sign the written informed consent form
- •any inflammatory, infectious or degenerative eye disease
- •media opacities resulting incompatible with good imaging quality
- •uncontrolled systemic, metabolic, autoimmune neuroinflammatory and neurodegenerative disease
- •ophthalmologic surgery within the previous six months
结局指标
主要结局
Clinical relevance of microRNAs in USH2A-RP
时间窗: 6 months period following the last follow-up visit
For all patients enrolled, at baseline, peripheral blood sampling will be collected.
次要结局
- To test the association between specific microRNAs profiles and the quantitative multimodal retinal imaging findings(6 months period following the last follow-up visit)
研究者
Maria Lucia Cascavilla
Co-Principal Investigator
IRCCS Ospedale San Raffaele