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

Genetic Disease Clinical Trial

— iKnow  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05049967
• Other study ID #: ILMN-iKnow
• Status: Active, not recruiting
• 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
• 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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn

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