Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
2020年1月3日 更新者：Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background:
- The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family.
Objective:
-To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease.
Eligibility:
- Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.
- Family members of a child who is eligible for this study.
Design:
- Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed.
- If DNA is not available, samples of either blood or skin will be taken.
- We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.
研究概览
地位
完全的
条件
详细说明
Over the last few years advancements in DNA sequencing technology have progressed significantly.
It now is feasible and economical to sequence the exome (known genes) or the entire genome.
This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases.
These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol.
It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.
研究类型
观察性的
注册 (实际的)
128
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习地点
-
-
Maryland
-
Bethesda、Maryland、美国、20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
-
-
参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
不
有资格学习的性别
全部
取样方法
非概率样本
研究人群
-Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.@@@-Family
members of a child who is eligible for this study.
描述
INCLUSION CRITERIA:
- Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated.
- Family members of a proband who is eligible for this protocol.
EXCLUSION CRITERIA:
1. Normal volunteers unrelated to a proband with the disease of interest.
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
|---|
|
Enrollees
Enrolled study participants in whom genetic sequencing was done
|
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Gene Mutations
大体时间：Baseline, Continuously
|
Identify genetic causes of rare diseases
|
Baseline, Continuously
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Deidentified sequence data
大体时间：Baseline, Continuously
|
Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory
|
Baseline, Continuously
|
合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员：An N Dang Do, M.D.、Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
出版物和有用的链接
负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (实际的)
2011年6月16日
初级完成 (实际的)
2018年11月27日
研究完成 (实际的)
2019年12月31日
研究注册日期
首次提交
2011年6月16日
首先提交符合 QC 标准的
2011年6月16日
首次发布 (估计)
2011年6月17日
研究记录更新
最后更新发布 (实际的)
2020年1月6日
上次提交的符合 QC 标准的更新
2020年1月3日
最后验证
2020年1月1日
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.