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

NCT ID: NCT03918707

Last Updated: 2021-05-27

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 115 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-06-01
• Study Completion Date: 2022-01-31

Brief 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

Genetic Disease; Genetic Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Prospective

The prospective group will consist of approximately 15 evaluable patients who will undergo rWGS sequencing in addition to standard of care genetic testing. Subjects in this study will be drawn from children admitted to the NICU at OSF HealthCare Children's Hospital of Illinois who meet inclusion criteria.

Rapid Whole Genome Sequencing (rWGS)

Intervention Type: DIAGNOSTIC_TEST

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.

Historical Control

The historical control group will consist of patients admitted to the NICU between January 1, 2016 and December 31, 2018 who received genetic testing at less than 4 months of age and fulfil eligibility criteria.

No interventions assigned to this group

Interventions

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.

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

Patients in the NICU less than 4 months of age with complex medical presentation of unknown etiology, who have 2 or more of the following are eligible:

• critically ill* and/or organ dysfunction
• one or more major congenital anomalies
• dysmorphic features and/or abnormal growth parameters
• neurologic impairment (seizure, hypotonia, encephalopathy)
• cardiomyopathy
• features suggestive of a metabolic disorder (eg unexplained/persistent hypoglycemia or acidosis)

• critically ill - cardiorespiratory insufficiency requiring ventilatory or cardiac support

Exclusion Criteria

• previously confirmed specific genetic diagnosis (antenatal or postnatal)
• obvious clinical findings for a specific condition that could be tested by targeted gene analysis
• preterm less than 24 weeks post-menstrual age
• ward of the state
• parent/legal guardian refusal to give consent for participation in the study
• patient does not meet eligibility criteria

• Minimum Eligible Age: 0 Months
• Maximum Eligible Age: 4 Months
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Rady Children's Institute of Genomic Medicine

UNKNOWN

Sponsor Role: collaborator

University of Illinois College of Medicine at Peoria

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Children's Hospital of Illinois

Peoria, Illinois, United States

Countries

United States

Other Identifiers

1346781

Identifier Type: -

Identifier Source: org_study_id