Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
|ClinicalTrials.gov Identifier: NCT01375543|
Recruitment Status : Enrolling by invitation
First Posted : June 17, 2011
Last Update Posted : February 13, 2018
- 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.
-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.
- 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.
- 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.
|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||80 participants|
|Official Title:||Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols|
|Study Start Date :||June 16, 2011|
- Gene Mutations
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01375543
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||An N Dang Do, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|