Neurologic Disorder Clinical Trial
— NeuroSEQOfficial 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
Verified date | April 2024 |
Source | Illumina, Inc. |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
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 |
Country | Name | City | State |
---|---|---|---|
United States | Univ. of Pennsylvania | Philadelphia | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Illumina, Inc. |
United States,
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 |
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