Clinical trial NCT05049967: iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders
Official title: iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Genetic Disease
Lead sponsor: Illumina, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Medical College of Wisconsin
First posted: 2021-09-20
Enrollment: 150
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

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.

Detailed 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

Eligibility criteria: 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

Primary outcomes:
measure: 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
timeFrame: 120 Days
Secondary outcomes:
measure: Number of diagnoses yielded by each of the different orthogonally confirmed assay results
timeFrame: 120 Days
measure: 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
timeFrame: 120 Days
measure: Data utilization of multi-omic dataset for scientific community
timeFrame: 120 Days
Other outcomes:
Locations:
city: Strasburg
country: United States
facility: Clinic for Special Children
state: Pennsylvania
Study officials:
affiliation: Illumina, Inc.
name: Ali Crawford, PhD
role: STUDY_DIRECTOR
References: