Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01375543|
Recruitment Status : Completed
First Posted : June 17, 2011
Last Update Posted : March 27, 2019
- 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 :||128 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|
Enrolled study participants in whom genetic sequencing was done
- Gene Mutations [ Time Frame: Baseline, Continuously ]Identify genetic causes of rare diseases
- Deidentified sequence data [ Time Frame: Baseline, Continuously ]Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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)|