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

NCT04170985 | Completed

• 1 other identifier: Neuro-R001
• Study Type: observational
• Target: 160
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurologic Deficits; Neurologic Disorder; Neurologic Abnormalities

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• Change of Management between cWGS and SOC testing as measured by a management questionnaire collected on a case report form

  Day 0 - Day 365

• Resource Utilization between cWGS and SOC testing

  Day 0 - Day 365

• Quality of Life between cWGS and SOC testing

  Day 0 - Day 365

• Diagnostic Accuracy between cWGS and SOC testing when comparing the medical monitor test outcome and the site PI test outcome

  Day 0 - Day 180

• Diagnostic Yield within Cohort when evaluating specific Neurologic disorders

  Day 0 - Day 365

Other Outcomes (3)

• Time to Diagnosis between cWGS and SOC testing

  Day 0 - Day 365

• Clinical Survey by the clinician who ordered SOC testing

  Day 365

• Participant Survey

  Day 365

Study Arms (1)

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

Interventions

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.

Single Cohort

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Illumina, Inc.: lead

Study Sites (1)

Univ. of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Biospecimen

Retention: NONE RETAINED

EDTA tube will be collected for whole genome sequencing (WGS) testing and left-over de-identified samples will be retained for future research.

MeSH Terms

Conditions

Neurologic Manifestations; Nervous System Diseases; Nervous System Malformations

Condition Hierarchy (Ancestors)

Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ryan J Taft, Ph.D

  Illumina, Inc.

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 18, 2019
• First Posted: November 20, 2019
• Study Start: November 18, 2019
• Primary Completion: January 31, 2024
• Study Completion: January 31, 2024
• Last Updated: May 1, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)