NCT04152876Unknown不适用
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Neuromed IRCCS1 个研究点 分布在 1 个国家目标入组 300 人开始时间: 2019年10月31日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Identification of genetic variants responsible for rare diseases
研究概览
简要总结
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.
详细描述
- Clinical evaluation of patients and relatives
- High throughput analysis of genetic variants in genome exomes
- Genotype-phenotype association testing
- Identification of genetic risk variants for rare diseases
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
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies
排除标准
- 未提供
结局指标
主要结局
Identification of genetic variants responsible for rare diseases
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
Diego Centonze
Head of Neurology Unit
Neuromed IRCCS
研究点 (1)
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