Idiopathic Diseases of Man (IDIOM)
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Genomic sequencing of tissue
研究概览
简要总结
This research is being done to learn more about possible genetic causes of currently undiagnosed conditions, and to find out how the development of new technologies, such as DNA sequencing, can increase knowledge of the role genetic variants play in disorders and possibly how genetic variants may help de-termine the best treatment options.
The recent development of new technologies has increased our ability to understand how genetic mutations are associated with disease. Using these technologies to find the genetic variants responsible for rare diseases is a rapidly growing field and has already begun to transform the way conditions with unknown causes are diagnosed and treated.
Hypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individual with rare disorder with previous unknown etiology.
- •Individual with known disorder that does not respond to conventional treatment.
- •Individual experienced a rare adverse event that was a result of the administration of a pharmacologic or biologic agent, immunization or device.
- •Individual is a family member of the affected individual. -
排除标准
- •Unwilling or unable to grant informed consent if they do not have a legal guardian who has authority to sign a consent form on their behalf.
- •Have a significant medical, affective, or psychiatric condition that in the Investigator's opinion may interfere with subject's study participation.
结局指标
主要结局
Genomic sequencing of tissue
时间窗: Day 1
Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.
次要结局
- Identification of modifying genomic alterations(Day 1)
研究者
Eric Topol, MD
Director
Scripps Translational Science Institute