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Genome Sequencing in the Intensive Care Unit Population

NCT04848090 · Status: ENROLLING_BY_INVITATION · Phase: NA · Type: INTERVENTIONAL · Enrollment: 400

Last updated 2026-01-09

No results posted yet for this study

Summary

The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population. This is not an assessment of a new device, test, or technology. This project is an investigation of the utility of this technology in clinical care when compared to standard of care testing. The study will look at the ability to more quickly diagnose a patient (time to diagnosis and efficacy of testing) as compared to standard of care testing. The study will also look at the impact of WGS on patient outcomes and cost of clinical care.

Conditions

Interventions

DIAGNOSTIC_TEST

Neonate WGS Testing

Neonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family. Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling. Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling.

Sponsors & Collaborators

  • Jerry Vockley, MD, PhD

    lead OTHER

Principal Investigators

  • Gerard Vockley, MD, PhD · University of Pittsburgh

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
1 Year
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-07-13
Primary Completion
2027-02-28
Completion
2027-06-30

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04848090 on ClinicalTrials.gov