North Carolina Newborn Exome Sequencing for Universal Screening

Summary

The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making. The National Institutes of Health (NICHD and NHGRI) are co-funding this study under a single U-19.

Conditions

• Hearing Loss
• Hereditary Disease
• Metabolism, Inborn Errors

Interventions

GENETIC

Well infant, whole exome sequencing

Whole exome sequencing will be performed in children with diagnosed conditions. Investigators will analyze results that are associated with their condition.

GENETIC

Diagnosed, whole exome sequencing

In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.

Sponsors & Collaborators

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

  collaborator NIH

• National Human Genome Research Institute (NHGRI)

  collaborator NIH

• RTI International

  collaborator OTHER

• University of North Carolina, Chapel Hill

  lead OTHER

Principal Investigators

• Jonathan Berg, MD, PhD · University of North Carolina School of Medicine Department of Genetics

• Cynthia M Powell, MD · University of North Carolina School of Medicine Department of Pediatrics

Study Design

Allocation

RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

1 Hour

Max Age

5 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2016-06-30

Primary Completion

2019-06-30

Completion

2019-06-30

Countries

• United States

Study Locations