iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders

NCT05049967 | Active Not Recruiting

• 1 other identifier: ILMN-iKnow
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

Prospective observational study to further understand the value that a multi-omic approach has in individuals with a multi system, early onset disorder that does not have a molecular diagnosis by whole genome sequencing.

Conditions

Genetic Disease

Outcome Measures

Primary Outcomes (1)

• Based on analysis of data from completed clinical utility evaluation surveys following receipt of study results by the PI, assess whether a patient's change of management resulted from the multi-omic results

  Understand the value and utilization of integrated multi-omics, in multi-system early onset disorders that have failed to yield findings by whole genome sequencing

  120 Days

Secondary Outcomes (3)

• Number of diagnoses yielded by each of the different orthogonally confirmed assay results

  120 Days

• Analyze data from completed clinical utility evaluation surveys; number of patients with change of management and whether the change was due to a diagnosis yielded by multiomic results

  120 Days

• Data utilization of multi-omic dataset for scientific community

  120 Days

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Outpatient setting with eighty percent consisting of prior negative genome cases that have previously received a clinical whole genome sequencing (cWGS) test. Remaining twenty percent will be positive controls who previously have a definitive diagnosis from clinical genetic testing.

You may qualify if:

• Undiagnosed probands must meet all of the following:
• Must be able to understand and sign an informed consent and speak, read, and write in their native language (if the subject is a minor, their parent must have these abilities)
• Proband between the ages of 12 months and 65 years
• Study consent and participation of at least two unaffected family members (biological parents preferred. One biological parent and unaffected sibling allowed)
• If applicable, unaffected sibling must be between the ages of 12 months and 65 years
• A high prior probability of a multi-system early onset undiagnosed genetic disorder based on an expert medical assessment
• Clinical WGS that did not yield a definitive diagnosis
• It is preferred but not required that ancestry is from an under-represented population in current clinical genetic and translational research data repositories, especially African American, Asian American and Native American
• Must be willing to have blood, urine and fecal samples taken to include participating family members
• Diagnosed probands must meet all of the following:
• Must be able to understand and sign an informed consent and speak, read, and write in their native language (if the subject is a minor, its Parent or Legally Authorized Representative must have these abilities).
• Proband between the ages of 12 months and 65 years
• Study consent and participation of at least two unaffected family members (biological parents preferred. One biological parent and unaffected sibling allowed)
• If applicable, unaffected sibling must be between the ages of 12 months and 65 years
• Known genetic cause(s) of disease, disorder, or phenotypic defect through prior clinical whole genome sequencing

You may not qualify if:

• Undiagnosed probands must not meet any:
• Known non-genetic cause(s) of disease, disorder, or phenotypic defect
• Principal Investigator decides that the study is not in the best interest of the proband
• Diagnosed probands must not meet any:
• \. Principal Investigator decides that the study is not in the best interest of the proband

Sponsors & Collaborators

• Illumina, Inc.: lead
• Medical College of Wisconsin: collaborator

Study Sites (1)

Clinic for Special Children

Strasburg, Pennsylvania, 17579, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Outpatient setting with eighty percent consisting of prior negative genome cases that have previously received a clinical whole genome sequencing (cWGS) test. Remaining twenty percent will be positive controls who previously have a definitive diagnosis from clinical genetic testing.

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ali Crawford, PhD

  Illumina, Inc.

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: September 9, 2021
• First Posted: September 20, 2021
• Study Start: November 9, 2021
• Primary Completion: December 10, 2021
• Study Completion: December 31, 2024
• Last Updated: April 30, 2024

Record last verified: 2024-04

Locations

US (1)