Neurologic DeficitsNeuroSEQNCT04170985
NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology
An observational study of Neurologic Deficits and Neurologic Disorder, run by Illumina, Inc. at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Neurologic Deficits, Neurologic Disorder, Neurologic Abnormalities
- What is being tested?
- clinical Whole Genome Sequencing
- How many people
- 160 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Nov 2019to 31 Jan 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- Age ≥ 18 years at the time of consent
- Participant is referred to a Neurogenetics Program due to suspected genetic etiology of a neurological syndrome
- No history of prior genetic testing for the suspected condition in the participant or any family member with a similar phenotype
- Must be able to have one - 4 to 6 ml tube of whole blood drawn for testing
- Able to provide written consent. If participant unable to do so, a legally authorized representative (LAR) must do so on behalf of the participant
Who cannot join
- Any known non-genetic cause(s) of disease, disorder, or phenotypic defect
- Eligibility for enrollment of each participant is at the discretion of the site PI
- Patient is unable or unwilling to undergo any form(s) of SOC genetic testing
- SOC testing is NOT requested for the participant
Trial locations and contacts
1 site in 1 country.
United States1 site
Univ. of Pennsylvania
Philadelphia, Pennsylvania, 19104
About this study
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
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.
Read the 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.
- Being tested
- clinical Whole Genome Sequencing
- Medical subject headings
- Neurologic Manifestations, Nervous System Diseases, Nervous System Malformations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
clinical Whole Genome SequencingOther
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: clinical Whole Genome Sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Day 0 - Day 365
Secondary outcomes (5)
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
Measured: Day 0 - Day 365
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
Measured: 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
Measured: 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
Measured: Day 0 - Day 180
Diagnostic Yield within Cohort when evaluating specific Neurologic disorders
Difference in diagnostic yield between cohorts of neurological disorders
Measured: Day 0 - Day 365
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2019
- Study start18 Nov 2019
- Primary completion31 Jan 2024
- Study completion31 Jan 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurologic DeficitsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 160 participants (actual)
Sponsor and investigators
- Lead sponsor
- Illumina, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ryan J Taft, Ph.D, Study chair, Illumina, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04170985
- Sponsor's protocol ID
- Neuro-R001
- Acronym
- NeuroSEQ
- Status last verified
- Apr 2024
- First submitted
- 18 Nov 2019
- Last updated
- 1 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: There is not a plan in place to share data with other researchers.
Study at a glance
From the registry record, last updated by the sponsor on 1 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04170985
- Acronym / sponsor ID
- NeuroSEQ / Neuro-R001
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 160 participants (actual)
- Lead sponsor
- Illumina, Inc.Industry (pharma, biotech, devices)
- Study start
- 18 Nov 2019 (actual)
- Primary completion
- 31 Jan 2024 (actual)
- Study completion
- 31 Jan 2024 (actual)
- First posted
- 20 Nov 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single Cohort | – | Other: clinical Whole Genome SequencingAll 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (5 listed)
- Age ≥ 18 years at the time of consent
- Participant is referred to a Neurogenetics Program due to suspected genetic etiology of a neurological syndrome
- No history of prior genetic testing for the suspected condition in the participant or any family member with a similar phenotype
- Must be able to have one - 4 to 6 ml tube of whole blood drawn for testing
- Able to provide written consent. If participant unable to do so, a legally authorized representative (LAR) must do so on behalf of the participant
Key exclusion criteria (4 listed)
- Any known non-genetic cause(s) of disease, disorder, or phenotypic defect
- Eligibility for enrollment of each participant is at the discretion of the site PI
- Patient is unable or unwilling to undergo any form(s) of SOC genetic testing
- SOC testing is NOT requested for the participant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| clinical Whole Genome SequencingParticipants will receive cWGS as well as standard of care testing. The clinician/site PI will be blinded to the cWGS results until Day 180. | Other | Single Cohort |
Primary outcome
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
5 secondary outcomes
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
Resource Utilization between cWGS and SOC testing
Time frame: Day 0 - Day 365
Quality of Life between cWGS and SOC testing
Time frame: Day 0 - Day 365
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 Yield within Cohort when evaluating specific Neurologic disorders
Time frame: Day 0 - Day 365
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 May 2024.
- Individual participant dataSharing planned: No. There is not a plan in place to share data with other researchers.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ryan J Taft, Ph.D study chair
Illumina, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurologic Deficits and Neurologic Disorder, run by Illumina, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic Yield between cWGS and SOC testing (time frame: Day 0 - Day 365). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 May 2024.