NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants (NICU-Seq)
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|ClinicalTrials.gov Identifier: NCT03290469|
Recruitment Status : Completed
First Posted : September 25, 2017
Last Update Posted : November 18, 2020
|Condition or disease||Intervention/treatment||Phase|
|Rare Diseases||Other: clinical whole genome sequencing (cWGS)||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||355 participants|
|Intervention Model:||Parallel Assignment|
|Intervention Model Description:||Multi-cohort, time delay study receiving Clinical Whole Genome Sequencing (cWGS) at either 15 days or 60 days in an acutely ill newborn population|
|Masking:||Triple (Participant, Care Provider, Investigator)|
|Masking Description:||All investigators are masked to the study arm until Day 15 to ensure SOC throughout first 15 days on study.|
|Official Title:||NICUSeq: A Prospective Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants|
|Actual Study Start Date :||September 14, 2017|
|Actual Primary Completion Date :||April 30, 2019|
|Actual Study Completion Date :||January 13, 2020|
Experimental: 15 day cWGS and Standard of Care
Enrolled cohorts receive the results of the clinical whole genome sequencing (cWGS) after 15 days of the sample receipt while still undergoing standard of care (SOC).
Other: clinical whole genome sequencing (cWGS)
Clinical Whole Genome Sequencing (cWGS) consists of the sequencing, analysis and interpretation of subjects samples and a return of the result to the ordering physician.
No Intervention: Standard of Care
Enrolled cohorts receive the results of the clinical whole genome sequencing (cWGS) after 60 days of the sample receipt while still undergoing standard of care (SOC).
- A difference in Change of Management between the 15 day cWGS and standard of care groups [ Time Frame: Day 60 ]
Change of Management is a binary (yes or no) based on assignments made by the PI or designee at each site using the following domains:
- Condition specific management
- Condition specific supportive interventions
- Palliative care/End of Life Care A change in any of these domains will be considered a change of management.
- Diagnostic Yield [ Time Frame: 90 Days ]Diagnostic yield (# positive diagnoses/ total # of each proband expressed as a percentage)
- Diagnostic Accuracy [ Time Frame: 90 Days ]
Diagnostic accuracy (percent positive agreement between test outcome classified by the medical monitor and the site PI or designee)
% diagnoses returned before discharge or death
- Genetic Results Returned [ Time Frame: 90 Days ]% diagnoses returned before discharge or death
- Costs [ Time Frame: 90 Days ]Pre-test costs of hospital care
- Average Time to Diagnosis [ Time Frame: 90 Days ]Average time (in days) to diagnose between cWGS and SOC based on the comparison of the (a) cWGS results and the (b) current clinical diagnoses
- The amount of imaging tests ordered as assessed by counting the number of tests per cohort. [ Time Frame: 90 Days ]Clinical services utilization includes the number of imaging tests ordered.
- cWGS satisfaction questionnaire will be given to clinicians and families at the conclusion of the study. [ Time Frame: 90 Days ]The questionnaire is a likard scale questionnaire developed by the study team to assess satisfaction levels from the perspective of the clinician and also the parent.
- Assessment of Clinical Utility by using a questionnaire [ Time Frame: 90 Days ]A questionnaire developed by the study team will assess the Clinical Utility of the cWGS test
- Change in Care Setting from the ICU environment [ Time Frame: 90 Days ]Changes in care level setting from the ICU environment will be compared between the 15 day cWGS group and the SOC group.
- Time to diagnosis [ Time Frame: 90 Days ]Time to diagnosis (in days of life)
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): NCT03290469
|United States, California|
|Rady's/Children's Hospital of Orange County|
|Orange, California, United States, 92868|
|United States, Missouri|
|Washington University in St. Louis School of Medicine & St. Louis Children's Hospital|
|Saint Louis, Missouri, United States, 63110|
|United States, Nebraska|
|University of Nebraska Medical Center & Children's Hospital|
|Omaha, Nebraska, United States, 68114|
|United States, Pennsylvania|
|Children's Hospital of Philadelpia|
|Philadelphia, Pennsylvania, United States, 19104|
|United States, Tennessee|
|Memphis, Tennessee, United States, 38103|
|Study Director:||Ryan J. Taft, PhD||Illumina, Inc.|