Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Identification of the molecular causes of unclear rare diseases
研究概览
简要总结
The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).
详细描述
In the GENOME+ study (monocentric, prospective, open-label diagnostic study), patients with molecularly undiagnosed diseases will diagnostically be analyzed by means of omics technologies or re-analyzed using existing datasets. The following questions will be leading the study:
Primary:
• Identification of the molecular causes of unclear rare diseases
Secondary:
- Improve number of diagnoses for patients with rare diseases
- Further characterization of the identified putative disease causes
- Increase number of patients receiving appropriate therapy after successful diagnosis.
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 diagnosis
- •Suspected genetic cause of the disease
- •Previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism
- •Healthy parents of those affected for trio analysis (exception of one parent is not available for the study)
排除标准
- •Missing informed consent of the patient and her/his parents
研究组 & 干预措施
Study population
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. In addition, healthy parents of volunteers will be recruited if available to facilitate Trio studies.
Study related procedures: Blood sampling, hair collection, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures, organoid cultivation).
干预措施: WGS Diagnostic Blood take for genetic diagnostic. (Genetic)
Study population
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. In addition, healthy parents of volunteers will be recruited if available to facilitate Trio studies.
Study related procedures: Blood sampling, hair collection, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures, organoid cultivation).
干预措施: Hair collection (Genetic)
结局指标
主要结局
Identification of the molecular causes of unclear rare diseases
时间窗: Day 1
Number of molecular causes
次要结局
- Patients receiving appropriate therapy after successful diagnosis(Day 1)
- Molecular characterization of putative disease causes(Day 1)
- Diagnoses for patients with rare diseases(Day 1)