NCT04046796招募中不适用
Genetic Causes of Discrepant Clinic in Monogenic Twins
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Number of new Candidate Genes
研究概览
简要总结
In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and/ or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Twin pair monozygotic clinically (phenotypic) discordant twins
- •Unclear diagnosis
- •Suspected (mono-)genetic cause of the disease in one twin
排除标准
- •Missing informed consent of both twin/ legal representative
- •No distinct phenotype
结局指标
主要结局
Number of new Candidate Genes
时间窗: Day 1
Number of new Candidate Genes for complex or serious diseases through a comparative genetic analysis of monozygotic clinically discordant twins
次要结局
- Number of putative disease causes(Day 1)
- Number of molecular causes of diagnostically unclear rare diseases(Day 1)
- Number of diagnosis(Day 1)
研究者
研究点 (1)
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