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Clinical Trial Details — Status: Active, not recruiting

Administrative data

NCT number NCT05049967
Other study ID # ILMN-iKnow
Secondary ID
Status Active, not recruiting
Phase
First received
Last updated
Start date November 9, 2021
Est. completion date December 31, 2024

Study information

Verified date April 2024
Source Illumina, Inc.
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Description:

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


Recruitment information / eligibility

Status Active, not recruiting
Enrollment 150
Est. completion date December 31, 2024
Est. primary completion date December 10, 2021
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Undiagnosed probands must meet all of the following: 1. 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) 2. Proband between the ages of 12 months and 65 years 3. Study consent and participation of at least two unaffected family members (biological parents preferred. One biological parent and unaffected sibling allowed) 4. If applicable, unaffected sibling must be between the ages of 12 months and 65 years 5. A high prior probability of a multi-system early onset undiagnosed genetic disorder based on an expert medical assessment 6. Clinical WGS that did not yield a definitive diagnosis 7. 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 8. Must be willing to have blood, urine and fecal samples taken to include participating family members Diagnosed probands must meet all of the following: 1. 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). 2. Proband between the ages of 12 months and 65 years 3. Study consent and participation of at least two unaffected family members (biological parents preferred. One biological parent and unaffected sibling allowed) 4. If applicable, unaffected sibling must be between the ages of 12 months and 65 years 5. Known genetic cause(s) of disease, disorder, or phenotypic defect through prior clinical whole genome sequencing 6. 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 7. Must be willing to have blood, urine and fecal samples taken to include participating family members Exclusion Criteria: - Undiagnosed probands must not meet any: 1. Known non-genetic cause(s) of disease, disorder, or phenotypic defect 2. Principal Investigator decides that the study is not in the best interest of the proband Diagnosed probands must not meet any: 1. Principal Investigator decides that the study is not in the best interest of the proband

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States Clinic for Special Children Strasburg Pennsylvania

Sponsors (2)

Lead Sponsor Collaborator
Illumina, Inc. Medical College of Wisconsin

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 Number of diagnoses yielded by each of the different orthogonally confirmed assay results Assess the number of new diagnoses yielded by each approach 120 Days
Secondary 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 Analyze the clinical utility derived from a diagnosis 120 Days
Secondary Data utilization of multi-omic dataset for scientific community Establish a multi-omic reference dataset from resource limited populations that can be used by the scientific community 120 Days
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