Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543 | Completed

• 2 other identifiers: 11017911-CH-0179
• Study Type: observational
• Target: 128
• Locations: 1 country
• Sites: 1

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.

Conditions

Genetic Predisposition

Keywords

Whole Exome; Whole Genome; Rare Disorders; Genetic Disorders

Outcome Measures

Primary Outcomes (1)

• Gene Mutations

  Identify genetic causes of rare diseases

  Baseline, Continuously

Secondary Outcomes (1)

• Deidentified sequence data

  Baseline, Continuously

Study Arms (1)

Enrollees

Enrolled study participants in whom genetic sequencing was done

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

-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.

You may qualify if:

• 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.

You may not qualify if:

• \. Normal volunteers unrelated to a proband with the disease of interest.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Predisposition to Disease; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• An N Dang Do, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 16, 2011
• First Posted: June 17, 2011
• Study Start: June 16, 2011
• Primary Completion: November 27, 2018
• Study Completion: December 31, 2019
• Last Updated: January 6, 2020

Record last verified: 2020-01

Locations

US (1)