Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 128
Last updated 2020-01-06
Summary
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.
Conditions
- Genetic Predisposition
Sponsors & Collaborators
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
lead NIH
Principal Investigators
-
An N Dang Do, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2011-06-16
- Primary Completion
- 2018-11-27
- Completion
- 2019-12-31
Countries
- United States
Study Locations
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