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临床试验/NCT03358459
NCT03358459Unknown不适用

Omics-based Precision Medicine of Epilepsy Being Entrusted by Key Research Project of the Ministry of Science and Technology of China

Fudan University1 个研究点 分布在 1 个国家目标入组 10,000 人开始时间: 2017年11月25日最近更新:
适应症

试验速览

阶段
不适用
入组人数
10,000
试验地点
1
主要终点
The important bio-markers for the efficient therapy and prognosis

研究概览

简要总结

Epilepsy is a major disease of the nervous system (WHO, 2015), as well as the second most common neural disease. It has been recorded that there have been 65 million epilepsy patients all over the world, more than 10 million in China, resulted in high morbidity, high mortality, heavy social and social psychological burden. Due to complex etiology, which genetic playing a large part for 70%-80%, easy to recurrent, as well as various seizure types, a great heterogeneity in clinical manifestation, epilepsy is difficult to treat in general, at least 33% patients. At present, It's still a big challenge in early warning, choice of treatment, efficacy and severe adverse reaction rate, prognosis assessment. Lack of precise diagnosis based genetic and molecular bio-markers for treatment are the main key points. Recently, clinical phenotype classifications of epilepsy have been refined, the exist researches had made a progress in gene mutation mechanism and targeted therapy, which pushed epilepsy being another disease could be precise treated after tumor. It's sure to provide a breakthrough for another neural diseases if epilepsy precise treatment project are successful.

详细描述

Research projects:

Part 1: Based on already existed large samples of epilepsy clinical cases, choose 2,0000 non-acquired epilepsy patients for clinical general phenotype and middle phenotype(EEG and MRI) data collection to further multi-dimensional standardization measure and evaluate. Through metabolic detection to define micro-phenotype. Establish a standardized clinical and biological samples database.

Part 2: By NGS technology to sequence for all cases, including family members, then require genotype. To test brain tissue DNA somatic mutation, which MRI negative and had an operation. To verify the newly discovered pathogenic candidate genes and carry on functional studies. Finally, to draw epileptic genetic mutations mapping in Chinese people.

Part 3: Integrated clinical and genetic epilepsy phenotypic data, combined with neural EEG and image bitmap data points for bio-markers analysis, included early warning, classification of diagnosis, curative effect prediction and epilepsy con-morbidity disease.

研究设计

研究类型
Observational
观察模型
Case Only
时间视角
Cross Sectional

入排标准

年龄范围
— 至 65 Years(Child, Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • non-acquired epilepsy; family involved(children, father and mother); Han nationality; Consent and will to follow up

排除标准

  • Acquired epilepsy; Very low birth weight infant

结局指标

主要结局

The important bio-markers for the efficient therapy and prognosis

时间窗: 2017.02-2018.07

the gene mutation or chromosome missing or duplication

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Yi Wang

vice prsident

Fudan University

研究点 (1)

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