Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Completed

Conditions studied: Genetic Predisposition

In brief

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.

Key facts

Study ID

NCT01375543

Run by

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

People needed

128

Starts

2011-06-16

Expected to finish

2019-12-31

Last updated by the study team

2020-01-06

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Normal volunteers unrelated to a proband with the disease of interest.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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