Clinical trial NCT03918707: Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
Official title: Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Genetic Disease
Genetic Syndrome
Lead sponsor: University of Illinois College of Medicine at Peoria
Sponsor class: OTHER
Collaborators: name: Rady Children's Institute of Genomic Medicine
First posted: 2019-04-17
Enrollment: 115
Sex: ALL
Minimum age (years): 0
Maximum age (years): 4
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This is a pilot study involving a prospective group 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. Non English speaking patients and their families may also be approached for participation in the study. Data will also be collected from a historical control of similar patients hospitalized from January 1, 2016 - December 31, 2018.

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.


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

Primary outcomes:
measure: Turnaround Time
timeFrame: Duration of individual patients hospital stay typically less than 60 days
measure: Cost of Hospitalization until Genetic Diagnosis
timeFrame: Duration of individual patients hospital stay typically less than 60 days
Secondary outcomes:
Other outcomes:
Locations:
city: Peoria
country: United States
facility: Children's Hospital of Illinois
state: Illinois
Study officials:
References: