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Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

NCT03918707 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 115

Last updated 2021-05-27

No results posted yet for this study

Summary

This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.

Conditions

Interventions

DIAGNOSTIC_TEST

Rapid Whole Genome Sequencing (rWGS)

rWGS will be performed on blood samples from subjects in the prospective group in addition to standard of care laboratory testing and imaging studies. Blood samples will also be obtained from biological parents (if available), to determine if variants are inherited or de novo and for variant segregation.

Sponsors & Collaborators

  • Rady Children's Institute of Genomic Medicine

    collaborator UNKNOWN

  • University of Illinois College of Medicine at Peoria

    lead OTHER

Eligibility

Min Age
0 Months
Max Age
4 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-06-01
Primary Completion
2022-01-31
Completion
2022-01-31

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 NCT03918707 on ClinicalTrials.gov