NCT04703179Enrolling By Invitation不适用
Rare and Undiagnosed Disease Research Biorepository
适应症
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- Mayo Clinic
- 入组人数
- 5,000
- 试验地点
- 3
- 主要终点
- Enrollment of Study Participants
研究概览
简要总结
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed 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
- 是
入选标准
- •Has Mayo Clinic or other medical health system ID, or another unique identifier
- •Able to provide informed consent
- •Must meet one of the following:
- •Individual must have evidence of a rare disease or a suspected genetic disorder as determined by a provider or genetic counselor
- •Biological family member of an enrolled individual
排除标准
- •Individuals who have situations that would limit compliance with the study requirements
- •Institutionalized (i.e. Federal Medical Prison)
结局指标
主要结局
Enrollment of Study Participants
时间窗: 5 years
5,000 participants to be accrued
次要结局
- Discovery of Disease Mechanisms and Therapeutic Approaches(5 years)
- Body-of-Knowledge(5 years)
- Diagnostic Yield(5 years)
研究者
Filippo Pinto e Vairo
Principal Investigator
Mayo Clinic
研究点 (3)
Loading locations...
相似试验
撤回
不适用
Finding Genes for Rare DiseasesRare DiseasesNCT02724995University of Kentucky
招募中
不适用
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare DiseasesRare DiseasesNCT04024774Centre Hospitalier Universitaire Dijon50
招募中
不适用
UW Undiagnosed Genetic Diseases ProgramRare DiseasesUndiagnosed DiseaseGenetic DiseaseNCT04586075University of Wisconsin, Madison1,000
Unknown
不适用
Functional Tests to Resolve Unsolved Rare Diseases. Rares.Rubinstein-Taybi SyndromeCongenital Heart DefectPeriventricular Nodular HeterotopiaNeurodegeneration With Brain Iron Accumulation (NBIA)Cystic FibrosisAlbinismIntellectual DisabilityNCT05696912University Hospital, Bordeaux50
招募中
不适用
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare DiseasesRare DiseasesGenetic PredispositionNCT03491280University Hospital Tuebingen5,500