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

Sponsor

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

Overall Status

Completed

CT.gov ID

NCT01375543

Collaborator

(none)

128

Enrollment

Location

102.5

Actual Duration (Months)

1.2

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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 Design

Study Type:

Observational

Actual Enrollment :

128 participants

Observational Model:

Other

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Jun 16, 2011

Actual Primary Completion Date :

Nov 27, 2018

Actual Study Completion Date :

Dec 31, 2019

Arms and Interventions

Arm	Intervention/Treatment
Enrollees Enrolled study participants in whom genetic sequencing was done

Outcome Measures

Primary Outcome Measures

Gene Mutations [Baseline, Continuously]
Identify genetic causes of rare diseases

Secondary Outcome Measures

Deidentified sequence data [Baseline, Continuously]
Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.