Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 5,500
- 试验地点
- 1
- 主要终点
- Molecular genetic
研究概览
简要总结
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed.
The DiRiP-study fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases, and in particular the ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS.
详细描述
In the DiRiP-RD study (monocentric, prospective, open-label diagnostic study), patients with genetically unexplained diseases will be analyzed or re-analyzed from existing datasets for further omics analysis. These are evaluated with regard to the following questions:
Primary:
- Verification of the genetic causes of unclear genetic diseases
Secondary:
- Improve number of diagnoses of unclear syndromes
- Further characterization of the identified gene defects
- Number of patients receiving appropriate therapy after successful diagnosis. In addition, patient phenotype and genotype data can be collected using a software tool for collecting and analyzing phenotypic information of patients with genetic disorders ( PhenoTips®) software to facilitate data exchange within the UKT, with external collaborators and data transfer to the Solve-RD project.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
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
排除标准
- •Missing informed consent of the patient/ legal guardian
结局指标
主要结局
Molecular genetic
时间窗: Day 1
Verification of the genetic causes of unclear genetic diseases
次要结局
- Characterization of gene defects(Day 1)
- Number of diagnoses(Day 1)
- Number of patients receiving appropriate therapy after successful diagnosis(Day 1)
研究者
Prof. Dr. Ludger Schöls
Principal investigator
University Hospital Tuebingen