North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694 | Completed Results DMC

• 2 other identifiers: 13-24095U19HD077632
• Study Type: interventional
• Target: 106
• Locations: 1 country
• Sites: 1

Brief 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

Metabolism, Inborn Errors; Hearing Loss; Hereditary Disease

Outcome Measures

Primary Outcomes (2)

• Parental Choices Following Decision Aid

  Analysis of parents' decisions after they complete an on-line decision aid to see if they wish to participate in the study. Options will be yes, no, or undecided.

  average of 3-6 months

• Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing

  Investigators analyzed next generation sequencing (NGS) results in the diagnosed cohort to determine the ability of whole exome sequencing to detect pathogenic variants in genes related to phenotype determined by standard newborn screening (NBS). The category of genes analyzed is termed the Next Generation Sequencing/Newborn Screening (NGS/NBS) category. Healthy newborns with no known genetic conditions also had the NGS/NBS category of genes analyzed.

  approximately 3-6 months after DNA sample obtained

Secondary Outcomes (1)

• Parental Reaction Scores

  Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visit

Study Arms (2)

Well infant, whole exome sequencing

OTHER

Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.

Genetic: Well infant, whole exome sequencing

Diagnosed, whole exome sequencing

OTHER

Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.

Genetic: Diagnosed, whole exome sequencing

Interventions

Well infant, whole exome sequencing GENETIC

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

Well infant, whole exome sequencing

Diagnosed, whole exome sequencing GENETIC

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.

Diagnosed, whole exome sequencing

Eligibility Criteria

• Age: 1 Hour - 5 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• Uncomplicated pregnancy and healthy newborn

You may not qualify if:

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

Sponsors & Collaborators

• University of North Carolina, Chapel Hill: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• National Human Genome Research Institute (NHGRI): collaborator
• RTI International: collaborator

Study Sites (1)

UNC Hospitals

Chapel Hill, North Carolina, 27599, United States

Location

Related Publications (1)

• Milko LV, Rini C, Lewis MA, Butterfield RM, Lin FC, Paquin RS, Powell BC, Roche MI, Souris KJ, Bailey DB Jr, Berg JS, Powell CM. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol. Trials. 2018 Jun 28;19(1):344. doi: 10.1186/s13063-018-2686-4.

  PMID: 29950170 DERIVED

MeSH Terms

Conditions

Metabolism, Inborn Errors; Hearing Loss; Genetic Diseases, Inborn

Interventions

Exome Sequencing

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Results Point of Contact

• Title: Dr. Cynthia M. Powell
• Organization: The University of North Carolina at Chapel Hill

powellcm@med.unc.edu

9199667646

Study Officials

• Jonathan Berg, MD, PhD

  University of North Carolina School of Medicine Department of Genetics

  PRINCIPAL INVESTIGATOR

• Cynthia M Powell, MD

  University of North Carolina School of Medicine Department of Pediatrics

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 21, 2016
• First Posted: July 11, 2016
• Study Start: June 1, 2016
• Primary Completion: June 30, 2019
• Study Completion: June 30, 2019
• Last Updated: July 8, 2020
• Results First Posted: July 8, 2020

Record last verified: 2019-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)