N/A N=106 Randomized Diagnostic

North Carolina Newborn Exome Sequencing for Universal Screening

Metabolism, Inborn Errors · Hearing Loss · Hereditary Disease

Bottom Line

View on ClinicalTrials.gov: NCT02826694 ↗

Enrolled (actual)

106

Serious AEs

0.0%

Results posted

Jul 2020

Primary outcome: Primary: Parental Choices Following Decision Aid — 120; 57; 25; 2 Participants

Study Design & Population

Study type: Interventional
Phase: N/A
Interventions: Well infant, whole exome sequencing (Genetic); Diagnosed, whole exome sequencing (Genetic)
Age: Pediatric · 0+ yrs
Sex: All
Sponsor: University of North Carolina, Chapel Hill
Primary completion: Jun 2019

Outcome Measures

Outcome	Result	p-value
PRIMARY Parental Choices Following Decision Aid	120; 57; 25; 2	—
PRIMARY Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing	61; 0; 0; 28; 0; 17	—
SECONDARY Parental Reaction Scores	2.3; 1.7; 2.5; 1.5	0.168

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.

Eligibility Criteria

Inclusion Criteria

Uncomplicated pregnancy and healthy newborn

Exclusion Criteria

Abnormalities such as major malformation or chromosomal disorder detected prenatally or significant complications during pregnancy or at the time of delivery.

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02826694). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.