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NCT03290469 | Completed | Rare Diseases

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
Sponsor:

Illumina, Inc.

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 the other group will continue to receive standard of care until Day 60. The standard of care group will receive cWGS and a clinical report at Day 60 as part of secondary and tertiary analyses. Both groups will be followed for a total of 90 days.

Condition or disease

Rare Diseases

Intervention/treatment

clinical whole genome sequencing (cWGS)

Phase

Not Applicable

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 clinical team. Upon enrollment in the study, each proband will be randomly assigned to the 15 day cWGS group or the SOC group. SOC is defined as the management of the proband's care under the same or similar conditions as if the proband was not enrolled in this study. A blood sample from each enrolled proband will be collected and shipped to the Illumina Clinical Services Laboratory ("ICSL"), which is Clinical Laboratory Improvement Amendments (CLIA)-certified and College of American Pathologists (CAP)-accredited. ICSL will conduct cWGS testing with the TruGenome Undiagnosed Disease Test ("TruGenome Test"). The TruGenome Test cWGS results will be provided to the Principal Investigator (PI) or designee who will evaluate each proband test outcome based on the aggregate medical information, informed by the cWGS or SOC results.}}

Study Type : Interventional
Estimated Enrollment : 355 participants
Masking : Triple
Masking Description : All investigators are masked to the study arm until Day 15 to ensure SOC throughout first 15 days on study.
Primary Purpose : Other
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
Estimated Primary Completion Date : April 30, 2019
Estimated Study Completion Date : January 13, 2020
Arm Intervention/treatment

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).

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).
Ages Eligible for Study: 1 Day to 120 Days
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Criteria
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.
    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

    Location Details

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    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

    How to Participate

    Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

    Locations

    Not yet recruiting

    United States, California

    Rady/Children's Hospital of Orange County

    Orange, California, United States, 92868

    Not yet recruiting

    United States, Missouri

    Washington University in St. Louis School of Medicine & St. Louis Children's Hospital

    Saint Louis, missouri, United States, 63110

    Not yet recruiting

    United States, Nebraska

    University of Nebraska Medical Center & Children's Hospital

    Omaha, Nebraska, United States, 68114

    Not yet recruiting

    United States, Pennsylvania

    Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, United States, 19104

    Not yet recruiting

    United States, Tennessee

    LeBonheur Hospital

    Memphis, Tennessee, United States, 38103