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NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology (NeuroSEQ)

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ClinicalTrials.gov Identifier: NCT04170985
Recruitment Status : Recruiting
First Posted : November 20, 2019
Last Update Posted : October 26, 2021
Sponsor:
Information provided by (Responsible Party):
Illumina, Inc.

Brief Summary:
Prospective, multi-site, single-arm study to evaluate the diagnostic yield of cWGS in adults with neurological disorders. A single cohort naive of genetic testing will receive standard of care testing for 180 days followed by cWGS. The cohort will be followed for a total of 365 days following enrollment.

Condition or disease Intervention/treatment Phase
Neurologic Deficits Neurologic Disorder Neurologic Abnormalities Other: clinical Whole Genome Sequencing Not Applicable

Detailed Description:
This is a prospective, randomized study to evaluate the diagnostic yield of SOC compared to cWGS in each participant. Throughout this study, each participant will receive SOC testing as determined by the site clinical team. After the physician orders SOC testing during standard clinical practice, the subject will be introduced and invited to participate in the study. On Day 180, the participant will receive a cWGS result and the participant will continue to be followed for an additional 180 days. A blood sample from each enrolled participant 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 participant's test outcome based on aggregate medical information.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Single cohort who receives standard of care testing prior to the results from cWGS.
Masking: None (Open Label)
Masking Description: Clinician/study PI is blinded to the WGS results until Day 180.
Primary Purpose: Other
Official Title: NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Adults With Suspected Genetic Neurological Disorders
Actual Study Start Date : November 18, 2019
Estimated Primary Completion Date : February 2023
Estimated Study Completion Date : February 2023

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Single Cohort
All participants will receive cWGS testing revealed to the site PI/clinician at Day 180. Participants will all receive standard of care testing throughout the study.
Other: clinical Whole Genome Sequencing
Participants will receive cWGS as well as standard of care testing. The clinician/site PI will be blinded to the cWGS results until Day 180.




Primary Outcome Measures :
  1. Diagnostic Yield between cWGS and SOC testing [ Time Frame: Day 0 - Day 365 ]
    The number of participants who have a diagnosis in the SOC arm vs the cWGS arm as measured by the test outcome


Secondary Outcome Measures :
  1. Change of Management between cWGS and SOC testing as measured by a management questionnaire collected on a case report form [ Time Frame: Day 0 - Day 365 ]
    The number of participants who have a change in management after receiving SOC results vs cWGS results as measured by a management questionnaire at baseline, Day 180 and Day 365

  2. Resource Utilization between cWGS and SOC testing [ Time Frame: Day 0 - Day 365 ]
    The number of participants who have utilized resources to include specialist referrals, tests/procedures ordered and procedures avoided in the SOC arm vs the cWGS arm as measured by data collection case report forms

  3. Quality of Life between cWGS and SOC testing [ Time Frame: Day 0 - Day 365 ]
    Comparison between Quality-of-Life scores as measured by the 12-Item Short Form Survey (SF12) from baseline compared to end of study

  4. Diagnostic Accuracy between cWGS and SOC testing when comparing the medical monitor test outcome and the site PI test outcome [ Time Frame: Day 0 - Day 180 ]
    Diagnostic accuracy- percent positive agreement between test outcome classified by the medical monitor and the site PI or designee

  5. Diagnostic Yield within Cohort when evaluating specific Neurologic disorders [ Time Frame: Day 0 - Day 365 ]
    Difference in diagnostic yield between cohorts of neurological disorders


Other Outcome Measures:
  1. Time to Diagnosis between cWGS and SOC testing [ Time Frame: Day 0 - Day 365 ]
    Average time (in days) to diagnosis between SOC and cWGS testing (duration between when sample is approved and when result(s) is/are delivered)

  2. Clinical Survey by the clinician who ordered SOC testing [ Time Frame: Day 365 ]
    Clinician and genetic counselor satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing

  3. Participant Survey [ Time Frame: Day 365 ]
    Participant satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing Participant satisfaction measured by an end-of-study questionnaire determining the participant's overall satisfaction with the use of cWGS testing



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  1. Age ≥ 18 years at the time of consent
  2. Participant is referred to a Neurogenetics Program due to suspected genetic etiology of a neurological syndrome
  3. No history of prior genetic testing for the suspected condition in the participant or any family member with a similar phenotype
  4. Must be able to have one - 4 to 6 ml tube of whole blood drawn for testing
  5. Able to provide written consent. If participant unable to do so, a legally authorized representative (LAR) must do so on behalf of the participant

Exclusion Criteria:

  1. Any known non-genetic cause(s) of disease, disorder, or phenotypic defect
  2. Eligibility for enrollment of each participant is at the discretion of the site PI
  3. Patient is unable or unwilling to undergo any form(s) of SOC genetic testing
  4. SOC testing is NOT requested for the participant

Information from the National Library of Medicine

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): NCT04170985


Contacts
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Contact: Julia Ortega, MHS, PA 8582428183 jortega1@illumina.com

Locations
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United States, Pennsylvania
Univ. of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Tanya Bardakijian, MS, LCGC    215-829-5181    Tanya.Bardakjian@pennmedicine.upenn.edu   
Sponsors and Collaborators
Illumina, Inc.
Investigators
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Study Chair: Ryan J Taft, Ph.D Illumina, Inc.
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Responsible Party: Illumina, Inc.
ClinicalTrials.gov Identifier: NCT04170985    
Other Study ID Numbers: Neuro-R001
First Posted: November 20, 2019    Key Record Dates
Last Update Posted: October 26, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: There is not a plan in place to share data with other researchers.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Nervous System Diseases
Neurologic Manifestations
Nervous System Malformations
Congenital Abnormalities