Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
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ClinicalTrials.gov Identifier: NCT01375543 |
Recruitment Status
:
Enrolling by invitation
First Posted
: June 17, 2011
Last Update Posted
: April 11, 2018
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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.
Condition or disease |
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Genetic Diseases |
Study Type : | Observational |
Actual Enrollment : | 104 participants |
Time Perspective: | Other |
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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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.

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) |
Additional Information:
Responsible Party: | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
ClinicalTrials.gov Identifier: | NCT01375543 History of Changes |
Other Study ID Numbers: |
110179 11-CH-0179 |
First Posted: | June 17, 2011 Key Record Dates |
Last Update Posted: | April 11, 2018 |
Last Verified: | February 7, 2018 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Gene Identification Genetics Genetic Disorders |
Additional relevant MeSH terms:
Genetic Diseases, Inborn |