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

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

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.

Study Overview

• Status: Completed
• Conditions: Genetic Predisposition

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 Type: Observational
• Enrollment (Actual): 128

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

• 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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Enrollees; Enrolled study participants in whom genetic sequencing was done

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Gene Mutations	Identify genetic causes of rare diseases	Baseline, Continuously

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Deidentified sequence data	Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory	Baseline, Continuously

Collaborators and Investigators

• Sponsor: 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)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): June 16, 2011
• Primary Completion (Actual): November 27, 2018
• Study Completion (Actual): December 31, 2019

Study Registration Dates

• First Submitted: June 16, 2011
• First Submitted That Met QC Criteria: June 16, 2011
• First Posted (Estimate): June 17, 2011

Study Record Updates

• Last Update Posted (Actual): January 6, 2020
• Last Update Submitted That Met QC Criteria: January 3, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Keywords: Genetic Disorders; Rare Disorders; Whole Genome; Whole Exome
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: 110179; 11-CH-0179