Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
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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 |
| Official Title: | Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols |
| Estimated Enrollment: | 100 |
| Study Start Date: | June 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| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
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| Contact: Forbes D Porter, M.D. | (301) 435-4432 | fdporter@mail.nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov | |
| Principal Investigator: | Forbes D Porter, M.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
More Information
Additional Information:
No publications provided
| ClinicalTrials.gov Identifier: | NCT01375543 History of Changes |
| Other Study ID Numbers: | 110179, 11-CH-0179 |
| Study First Received: | June 16, 2011 |
| Last Updated: | April 17, 2013 |
| Health Authority: | United States: Federal Government |
Keywords provided by National Institutes of Health Clinical Center (CC):
|
Gene Identification Genetics Genetic Disorders |
Additional relevant MeSH terms:
|
Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on May 22, 2013