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Rare DiseasesNICU-SeqNCT03290469

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

A study testing clinical whole genome sequencing (cWGS) in people with Rare Diseases, run by Illumina, Inc. at 5 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 1 day to 120 days
Conditions the study is for
Rare Diseases
What is being tested?
clinical whole genome sequencing (cWGS)
Could I receive a placebo?
No, everyone receives an active treatment
How many people
355 participants
Where
5 sitesUnited States
Study dates
14 Sep 2017to 13 Jan 2020
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 1 day to 120 days
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

None listed.

Who cannot join

  • 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.

Trial locations and contacts

5 sites in 1 country.

5 sites in 1 country

United States5 sites

  • LeBonheur Hospital

    Memphis, Tennessee, 38103

  • University of Nebraska Medical Center & Children's Hospital

    Omaha, Nebraska, 68114

  • Rady's/Children's Hospital of Orange County

    Orange, California, 92868

  • Children's Hospital of Philadelpia

    Philadelphia, Pennsylvania, 19104

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

    St Louis, Missouri, 63110

Other trials in United States

About this 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

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.

Read the 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.

Conditions
Rare Diseases
Being tested
clinical whole genome sequencing (cWGS)
Keywords
ICU, Intensive Care Unit
Medical subject headings
Rare Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • clinical whole genome sequencing (cWGS)Other

    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.

Study groups in NCT03290469
Study groupRoleWhat they receive
15 day cWGS and Standard of CareExperimentalEnrolled 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).
Receives: Other: clinical whole genome sequencing (cWGS)
Standard of CareNo interventionEnrolled 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).

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. A difference in Change of Management between the 15 day cWGS and standard of care groups

    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.

    Measured: Day 60

Secondary outcomes (10)

  1. Diagnostic Yield

    Diagnostic yield (# positive diagnoses/ total # of each proband expressed as a percentage)

    Measured: 90 Days

  2. Diagnostic Accuracy

    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

    Measured: 90 Days

  3. Genetic Results Returned

    % diagnoses returned before discharge or death

    Measured: 90 Days

  4. Costs

    Pre-test costs of hospital care

    Measured: 90 Days

  5. Average Time to Diagnosis

    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

    Measured: 90 Days

  6. The amount of imaging tests ordered as assessed by counting the number of tests per cohort.

    Clinical services utilization includes the number of imaging tests ordered.

    Measured: 90 Days

  7. cWGS satisfaction questionnaire will be given to clinicians and families at the conclusion of the study.

    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.

    Measured: 90 Days

  8. Assessment of Clinical Utility by using a questionnaire

    A questionnaire developed by the study team will assess the Clinical Utility of the cWGS test

    Measured: 90 Days

  9. Change in Care Setting from the ICU environment

    Changes in care level setting from the ICU environment will be compared between the 15 day cWGS group and the SOC group.

    Measured: 90 Days

  10. Time to diagnosis

    Time to diagnosis (in days of life)

    Measured: 90 Days

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted25 Sep 2017
  2. Study start14 Sep 2017
  3. Primary completion30 Apr 2019
  4. Study completion13 Jan 2020

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Other
Allocation
Randomised
Intervention model
Parallel groups
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 blind
Who is masked
Participant, Care provider, Investigator
Enrolment
355 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03290469
Sponsor's protocol ID
NICU-R001
Acronym
NICU-Seq
Status last verified
May 2019
First submitted
13 Sep 2017
Last updated
18 Nov 2020
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No: Deidentified and curated variant and limited phenotype information will be submitted to ClinVar. ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes hosted by the National Center for Biotechnology Information (NCBI) and funded by Intramural National Institutes of Health (NIH) funding. No personal health information (PHI) or information identifying the participant or family will be submitted.

Publications

  • NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496.

    PubMed 34570182

Questions about this trial

What is this clinical trial studying?

A study testing clinical whole genome sequencing (cWGS) in people with Rare Diseases, run by Illumina, Inc. at 5 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 0 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 18 Nov 2020. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

A difference in Change of Management between the 15 day cWGS and standard of care groups (time frame: Day 60). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03290469, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Nov 2020.

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