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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.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| clinical Whole Genome Sequencing | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Clinical Survey by the clinician who ordered SOC testing |
Inclusion Criteria:
Exclusion Criteria:
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A single cohort presenting with phenotypic symptoms of a suspected genetic neurological disorder who have been scheduled for Standard of Care (SOC) molecular testing as determined by their physician.
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| Name | Affiliation | Role |
|---|---|---|
| Ryan J Taft, Ph.D | Illumina, Inc. | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Univ. of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
There is not a plan in place to share data with other researchers.
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| ID | Term |
|---|---|
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D009421 | Nervous System Malformations |
| ID | Term |
|---|---|
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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EDTA tube will be collected for whole genome sequencing (WGS) testing and left-over de-identified samples will be retained for future research.
| 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 |
| 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 |
| 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 |
| Diagnostic Yield within Cohort when evaluating specific Neurologic disorders | Difference in diagnostic yield between cohorts of neurological disorders | Day 0 - Day 365 |
Clinician and genetic counselor satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing |
| Day 365 |
| 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 |