Immunome Project Consortium for Autoinflammatory Disorders
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 612
- 试验地点
- 1
- 主要终点
- Area under the curve (AUC)
研究概览
简要总结
Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided into two groups:
- Diseases for which genetic mutations have been identified
- The so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease
At present, the causes and mechanisms of these diseases are poorly understood and their diagnosis is difficult, often leading to misdiagnosis. The usual care integrates anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support for patients and their families by health professionals (doctors, nurses, physiotherapists, etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made and the right therapy is put in place.
The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.
详细描述
The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method. To this end, investigators are building a collection of biological samples derived from blood (plasma, serum, cells and DNA) as well as urine and stool to perform biological assays and multiple analyses so-called "omics": genomics (on the entire genome), proteomics (on all proteins) etc...This will make it possible to identify the genetic mutations or biological markers present or absent in these diseases, making it possible to confirm a diagnosis or to eliminate differential diagnoses.
To better understand and identify the abnormalities leading to the onset of auto-inflammatory diseases, four groups will be constituted:
- a group of patients with auto-inflammatory diseases for which a genetic mutation has been identified.
- a group of subjects free from any auto-inflammatory disease.
- a group of patients suffering from an auto-inflammatory disease, poorly characterized; i.e. auto-inflammatory diseases for which clinicians are not certain on mechanisms leading to the onset of the disease.
- a group of parents of patients suffering from an auto-inflammatory disease, poorly characterized.
At a routine follow-up visit, the investigator will inform the participant about the nature and purpose of the study research.
If the participant agree, the participant will sign the consent to participate in this study and the tests investigators will administer for this study will take place during a consultation of approximately 2 hours.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Area under the curve (AUC)
时间窗: [0-6] MONTHS
Area under the curve (AUC) of the candidate algorithm able to discriminate between healthy controls and patients with SAID, either monogenic SAIDs (positive controls) or undiagnosed SAIDs.
次要结局
未报告次要终点