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

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ClinicalTrials.gov Identifier: NCT03918707
Recruitment Status : Not yet recruiting
First Posted : April 17, 2019
Last Update Posted : April 17, 2019
Sponsor:
Collaborator:
Rady Children's Institute of Genomic Medicine
Information provided by (Responsible Party):
University of Illinois College of Medicine at Peoria

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.

Condition or disease Intervention/treatment
Genetic Disease Genetic Syndrome Diagnostic Test: Rapid Whole Genome Sequencing (rWGS)

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Study Type : Observational
Estimated Enrollment : 115 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
Estimated Study Start Date : May 2019
Estimated Primary Completion Date : January 2022
Estimated Study Completion Date : January 2022

Group/Cohort Intervention/treatment
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.
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.

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.



Primary Outcome Measures :
  1. Turnaround Time [ Time Frame: Duration of individual patients hospital stay typically less than 60 days ]

    If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data.

    We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.


  2. Cost of Hospitalization until Genetic Diagnosis [ Time Frame: Duration of individual patients hospital stay typically less than 60 days ]

    If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data.

    We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.




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Ages Eligible for Study:   up to 4 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03918707


Contacts
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Contact: Kelsey A Balcer, BS 309-655-2189 kbalcer@uic.edu
Contact: Susan B Ramiro, MD 309-624-0616 Susan.B.Ramiro@osfhealthcare.org

Sponsors and Collaborators
University of Illinois College of Medicine at Peoria
Rady Children's Institute of Genomic Medicine

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Responsible Party: University of Illinois College of Medicine at Peoria
ClinicalTrials.gov Identifier: NCT03918707     History of Changes
Other Study ID Numbers: 1346781
First Posted: April 17, 2019    Key Record Dates
Last Update Posted: April 17, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Genetic Diseases, Inborn