- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03918707
Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
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Illinois
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Peoria, Illinois, United States, 61637
- Children's Hospital of Illinois
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
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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.
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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.
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Turnaround Time
Time Frame: Duration of individual patients hospital stay typically less than 60 days
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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. |
Duration of individual patients hospital stay typically less than 60 days
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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. |
Duration of individual patients hospital stay typically less than 60 days
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 1346781
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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