Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 12,000
- 试验地点
- 1
- 主要终点
- Number of WGS analysis
研究概览
简要总结
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented.
The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Unclear molecular cause of the disease
- •Suspected genetic cause of the disease
排除标准
- •Missing informed consent of the patient and if applicable the legal representative
- •Previously performed WES or panel analysis
研究组 & 干预措施
WGS Diagnostic
Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease.
Study related procedures: Blood sampling, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics).
干预措施: WGS Diagnostic: Blood take for genetic diagnostic (Genetic)
结局指标
主要结局
Number of WGS analysis
时间窗: Day 1
WGS analysis as a first line diagnostic test for all clinical indications
次要结局
未报告次要终点