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

Genetic Predisposition Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01375543
• Other study ID #: 110179
• Secondary ID: 11-CH-0179
• Status: Completed
• Start date: June 16, 2011
• Est. completion date: December 31, 2019

Study information

• Verified date: January 2020
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 128
• Est. completion date: December 31, 2019
• Est. primary completion date: November 27, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

• 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.

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease

Locations

Country	Name	City	State
United States	National Institutes of Health Clinical Center, 9000 Rockville Pike	Bethesda	Maryland

Sponsors (1)

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

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Gene Mutations	Identify genetic causes of rare diseases	Baseline, Continuously
Secondary	Deidentified sequence data	Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory	Baseline, Continuously

External Links

•   NIH Clinical Center Detailed Web Page