Reverse Phenotyping Core (RPC)
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Hypotheses from RPC to be tested
研究概览
简要总结
Background:
Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not. Researchers want to gather more data on people based on their genes. They want to use this data to learn more about diseases and possible treatments.
Objectives:
To develop a cohort of participants who can be contacted again for phenotyping and collect their genetic data. To share those data with other researchers and make them searchable.
Eligibility:
People already enrolled in a wide variety of protocols. They will be of varying health status, age, and sex. They will have had or plan to have exome or genome sequencing under their protocol. They can be re-contacted by the research team for possible other studies.
Design:
Participants will give basic details like contact and demographic information.
Participants may answer questions about their personal health history, their family medical history, or their thoughts or reactions to data.
Participants may have basic health tests. Their height, weight, or blood pressure may be checked.
Participants may have tests of heart function. They may have an ultrasound or other non-invasive test.
Participants may provide blood, urine, or other samples.
Participants may have scans or other tests.
Participants will get the results of all clinical tests in a letter.
If any tests are abnormal, someone from the study will call the participant to explain what the results mean and what to do about them.
Participants will get genetic testing results only if researchers think they could affect the health of the participant or their relatives.
详细描述
Study Design:
RPC will be a data resource of genetic variants with the capability of performing phenotyping for selected study participants who have undergone genome or exome sequencing and were consented for data sharing and re-contact. De-identified genome or exome data will be collected as the RPC Genomic Data Archive and available in a web browser quantifying alleles in aggregate. Investigators may request additional data for research on the basis of variants of interest identified in the browser. Individuals with genetic variants of interest may be offered phenotyping under RPC. Phenotyping performed under RPC will include obtaining medical information, gathering biologic samples, and selected diagnostic studies that can be performed in the NIHCC (NIH Clinical Center). RPC will enable investigation of phenotypic consequences of genetic variation in humans by using a genomic ascertainment strategy to minimize the bias of phenotypic ascertainment.
Primary Objective:
- To pilot the development of a cohort of individuals with genome or exome sequencing data who can be re-contacted for phenotyping and make those data available to and searchable by collaborators.
- To facilitate the completion of genotype-driven research projects by RPC or other investigators.
Secondary Objectives:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 4 Years 至 120 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants in the RPC Genomic Data Archive must have exome or genome sequencing available that collaborators have permission to share for inclusion in our resource.
- •Participants in the RPC Genomic Data Archive must be re-contactable by the primary study team (e.g., the collaborator who contributes their data must be able to contact the participants).
- •All participants must be >= 4 years old.
- •Health Perceptions Survey Criterion: Only adult participants who are able to provide consent for themselves will be eligible for this portion of the study.
排除标准
- 未提供
研究组 & 干预措施
Reverse Phenotyping Core
Individuals undergoing phenotyping by the Reverse Phenotyping Core (RPC)
结局指标
主要结局
Hypotheses from RPC to be tested
时间窗: yearly
RPC will generate data regarding phenotypic consequences of genetic variants
次要结局
未报告次要终点