NCT02403765已完成不适用
Realization of Diagnostic Tools for the Early Analysis of Parkinson's Disease Through the Identification of Genetic Risk Profiles
Neuromed IRCCS1 个研究点 分布在 1 个国家目标入组 500 人开始时间: 2015年5月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Identification of genetic variants associated with Parkinson's disease
研究概览
简要总结
The study aims to identify genetic variants associated to Parkinson's disease through the analysis of exome-sequencing data of familial cases and controls. The identified variants will be used to generate a diagnostic tool for the identification of genetic risk profiles.
详细描述
- Clinical evaluation of PD patients and relatives
- High throughput analysis of genetic variants in genome exomes
- Genotype-phenotype association testing
- Identification of genetic risk variants for PD
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 30 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Presence of at least two out the following cardinal signs: resting tremor, cogwheel rigidity, bradykinesia, asymmetrical onset of symptoms and symptomatic response to L-dopa (levodopa)
排除标准
- •Previous thalamotomy on the implanted sided, significant brain atrophy or structural damage seen on CT or MRI, marked cognitive dysfunction, active psychiatric symptoms, or concurrent neurological or other uncontrolled medical disorders.
结局指标
主要结局
Identification of genetic variants associated with Parkinson's disease
时间窗: Two years
Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls
次要结局
未报告次要终点
研究者
Antonio Simeone
Head
Neuromed IRCCS
研究点 (1)
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