North Carolina Newborn Exome Sequencing for Universal Screening

NACompletedINTERVENTIONAL
Enrollment

106

Participants

Timeline

Start Date

June 30, 2016

Primary Completion Date

June 30, 2019

Study Completion Date

June 30, 2019

Conditions
Metabolism, Inborn ErrorsHearing LossHereditary Disease
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.

Trial Locations (1)

27599

UNC Hospitals, Chapel Hill

All Listed Sponsors
collaborator

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

NIH

collaborator

National Human Genome Research Institute (NHGRI)

NIH

collaborator

RTI International

OTHER

lead

University of North Carolina, Chapel Hill

OTHER

NCT02826694 - North Carolina Newborn Exome Sequencing for Universal Screening | Biotech Hunter | Biotech Hunter