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

Neurologic Disorder Clinical Trial

— NeuroSEQ  

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04170985
• Other study ID #: Neuro-R001
• Status: Completed
• Start date: November 18, 2019
• Est. completion date: January 31, 2024

Study information

• Verified date: April 2024
• Source: Illumina, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 160
• Est. completion date: January 31, 2024
• Est. primary completion date: January 31, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Nervous System Diseases
• Nervous System Malformations
• Neurologic Abnormalities
• Neurologic Deficits
• Neurologic Disorder
• Neurologic Manifestations

Intervention

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.

Locations

Country	Name	City	State
United States	Univ. of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Illumina, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Time to Diagnosis between cWGS and SOC testing	Average time (in days) to diagnosis between SOC and cWGS testing (duration between when sample is approved and when result(s) is/are delivered)	Day 0 - Day 365
Other	Clinical Survey by the clinician who ordered SOC testing	Clinician and genetic counselor satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing	Day 365
Other	Participant Survey	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	Day 365
Primary	Diagnostic Yield between cWGS and SOC testing	The number of participants who have a diagnosis in the SOC arm vs the cWGS arm as measured by the test outcome	Day 0 - Day 365
Secondary	Change of Management between cWGS and SOC testing as measured by a management questionnaire collected on a case report form	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	Day 0 - Day 365
Secondary	Resource Utilization between cWGS and SOC testing	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	Day 0 - Day 365
Secondary	Quality of Life between cWGS and SOC testing	Comparison between Quality-of-Life scores as measured by the 12-Item Short Form Survey (SF12) from baseline compared to end of study	Day 0 - Day 365
Secondary	Diagnostic Accuracy between cWGS and SOC testing when comparing the medical monitor test outcome and the site PI test outcome	Diagnostic accuracy- percent positive agreement between test outcome classified by the medical monitor and the site PI or designee	Day 0 - Day 180
Secondary	Diagnostic Yield within Cohort when evaluating specific Neurologic disorders	Difference in diagnostic yield between cohorts of neurological disorders	Day 0 - Day 365