Status:
COMPLETED
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
Lead Sponsor:
Illumina, Inc.
Collaborating Sponsors:
Le Bonheur Children's Hospital
Rady Pediatric Genomics & Systems Medicine Institute
Conditions:
Rare Diseases
Eligibility:
All Genders
1-120 years
Phase:
NA
Brief Summary
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while th...
Detailed Description
This is a prospective, multi-site, randomized study to evaluate the clinical utility of cWGS in each proband. Throughout this study, each proband will receive SOC testing as determined by the site cli...
Eligibility Criteria
Inclusion
- Proband Inclusion Criteria
- Current admission in a Neonatal Intensive Care Unit/Intensive Care Unit at a participating clinical site at the time of enrollment from day of life 0 to 120 days
- A suspected genetic etiology of disease, based on objective clinical findings or other phenotypic defects for which a genetic test would be considered
- Must be able to have 1 - 1.25 ml tube of whole blood drawn for testing
- One parent of the proband must be able to provide written informed consent
- At least one biological parent must agree to participate and provide at least 4 ml of whole blood for testing
- Exclusion Criteria:
- Proband Exclusion Criteria
- Known non-genetic cause(s) of disease, disorder, or phenotypic defect
- The phenotype is fully explained by complications of prematurity
- Trisomy 13, 18 or 21 or Turner Syndrome is the likely diagnosis; such a proband will be eligible if a diagnostic karyotype is normal
- Blood transfusion within 48 hours (each proband will be re-eligible 48 hours after the most recent transfusion)
- The PI decides that the study is not in the best interest of the proband (for example, the neonate or infant is at a high risk of severe morbidity or mortality within the next 7 days and these risks could be mitigated by alternative testing). Subsequent eligibility for enrollment of each proband is at the discretion of the site PI.
Exclusion
Key Trial Info
Start Date :
September 14 2017
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
January 13 2020
Estimated Enrollment :
355 Patients enrolled
Trial Details
Trial ID
NCT03290469
Start Date
September 14 2017
End Date
January 13 2020
Last Update
November 18 2020
Active Locations (5)
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1
Rady's/Children's Hospital of Orange County
Orange, California, United States, 92868
2
Washington University in St. Louis School of Medicine & St. Louis Children's Hospital
St Louis, Missouri, United States, 63110
3
University of Nebraska Medical Center & Children's Hospital
Omaha, Nebraska, United States, 68114
4
Children's Hospital of Philadelpia
Philadelphia, Pennsylvania, United States, 19104