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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 25, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Study Description
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Brief Summary:

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
Genetic Diseases

Detailed Description:
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.

Study Design
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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
Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Gene Mutations

Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

  • INCLUSION CRITERIA:

    1. 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.
    2. 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
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Information from the National Library of Medicine

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


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: An N Dang Do, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
More Information
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Additional Information:
NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

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 25, 2018
Last Verified: April 9, 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