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Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
This study is enrolling participants by invitation only.
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
ClinicalTrials.gov Identifier:
NCT01375543
First received: June 16, 2011
Last updated: June 20, 2017
Last verified: June 15, 2017
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Purpose
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 |
|---|
| Genetic Diseases |
| Study Type: | Observational |
| Study Design: | Time Perspective: Other |
| Official Title: | Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols |
Further study details as provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Primary Outcome Measures:
- Gene Mutations
| Enrollment: | 80 |
| Study Start Date: | June 9, 2011 |
Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.
Eligibility| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
Criteria
-
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.
Contacts and Locations
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, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01375543
Please refer to this study by its ClinicalTrials.gov identifier: NCT01375543
Locations
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | |
| Bethesda, Maryland, United States, 20892 | |
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
| Principal Investigator: | Margarita J Raygada, Ph.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
More Information
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 |
| Study First Received: | June 16, 2011 |
| Last Updated: | June 20, 2017 |
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 |
ClinicalTrials.gov processed this record on June 22, 2017