Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03290469
Other study ID # NICU-R001
Secondary ID
Status Completed
Phase N/A
First received
Last updated
Start date September 14, 2017
Est. completion date January 13, 2020

Study information

Verified date May 2019
Source Illumina, Inc.
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical 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. 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 355
Est. completion date January 13, 2020
Est. primary completion date April 30, 2019
Accepts healthy volunteers No
Gender All
Age group N/A to 120 Days
Eligibility Proband Inclusion Criteria 1. 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 2. A suspected genetic etiology of disease, based on objective clinical findings or other phenotypic defects for which a genetic test would be considered 3. Must be able to have 1 - 1.25 ml tube of whole blood drawn for testing 4. One parent of the proband must be able to provide written informed consent 5. 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 1. Known non-genetic cause(s) of disease, disorder, or phenotypic defect 2. The phenotype is fully explained by complications of prematurity 3. Trisomy 13, 18 or 21 or Turner Syndrome is the likely diagnosis; such a proband will be eligible if a diagnostic karyotype is normal 4. Blood transfusion within 48 hours (each proband will be re-eligible 48 hours after the most recent transfusion) 5. 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.

Study Design


Related Conditions & MeSH terms


Intervention

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.

Locations

Country Name City State
United States LeBonheur Hospital Memphis Tennessee
United States University of Nebraska Medical Center & Children's Hospital Omaha Nebraska
United States Rady's/Children's Hospital of Orange County Orange California
United States Children's Hospital of Philadelpia Philadelphia Pennsylvania
United States Washington University in St. Louis School of Medicine & St. Louis Children's Hospital Saint Louis Missouri

Sponsors (7)

Lead Sponsor Collaborator
Illumina, Inc. Children's Hospital and Medical Center, Omaha, Nebraska, Children's Hospital of Orange County, Children's Hospital of Philadelphia, Le Bonheur Children's Hospital, Rady Pediatric Genomics & Systems Medicine Institute, St. Louis Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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.
Day 60
Secondary Diagnostic Yield Diagnostic yield (# positive diagnoses/ total # of each proband expressed as a percentage) 90 Days
Secondary 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
90 Days
Secondary Genetic Results Returned % diagnoses returned before discharge or death 90 Days
Secondary Costs Pre-test costs of hospital care 90 Days
Secondary 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 90 Days
Secondary 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. 90 Days
Secondary 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. 90 Days
Secondary Assessment of Clinical Utility by using a questionnaire A questionnaire developed by the study team will assess the Clinical Utility of the cWGS test 90 Days
Secondary 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. 90 Days
Secondary Time to diagnosis Time to diagnosis (in days of life) 90 Days
See also
  Status Clinical Trial Phase
Recruiting NCT05794217 - A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
Completed NCT03680365 - Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
Not yet recruiting NCT05955794 - Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes N/A
Recruiting NCT04429750 - Intact Cord Resuscitation in CDH N/A
Not yet recruiting NCT04152876 - Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Recruiting NCT03683966 - MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Not yet recruiting NCT04319796 - European Registry on Rare Neurological Diseases
Completed NCT02736565 - Pbi-shRNAâ„¢ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma Phase 1
Completed NCT05070988 - Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach
Completed NCT03563677 - Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases N/A
Recruiting NCT05499091 - Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN N/A
Completed NCT03954652 - Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH" N/A
Recruiting NCT05703893 - Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA)
Enrolling by invitation NCT04703179 - Rare and Undiagnosed Disease Research Biorepository
Recruiting NCT04024774 - Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
Recruiting NCT06343558 - Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Not yet recruiting NCT06412718 - Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
Enrolling by invitation NCT04654000 - Rheopheresis as Adjuvant Treatment of Calciphylaxis N/A
Recruiting NCT04651439 - Severe Bullous Drug Eruption and Filgrastim Phase 2/Phase 3
Recruiting NCT03491280 - Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases