Genetic DiseaseiKnowNCT05049967
iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders
An observational study of Genetic Disease, run by Illumina, Inc. at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Genetic Disease
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 9 Nov 2021to 31 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Show all 17Show fewer
- 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
- 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
Who cannot join
- 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:
- 1. Principal Investigator decides that the study is not in the best interest of the proband
Trial locations and contacts
1 site in 1 country.
United States1 site
Clinic for Special Children
Strasburg, Pennsylvania, 17579
About this study
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.
Read the 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
- Conditions
- Genetic Disease
- Medical subject headings
- Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 120 Days
Secondary outcomes (3)
Number of diagnoses yielded by each of the different orthogonally confirmed assay results
Assess the number of new diagnoses yielded by each approach
Measured: 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
Analyze the clinical utility derived from a diagnosis
Measured: 120 Days
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
Measured: 120 Days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2021
- Study start9 Nov 2021
- Primary completion10 Dec 2021
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Illumina, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Medical College of Wisconsin
- Responsible party
- Sponsor
- Investigators
- Ali Crawford, PhD, Study director, Illumina, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05049967
- Sponsor's protocol ID
- ILMN-iKnow
- Acronym
- iKnow
- Status last verified
- Apr 2024
- First submitted
- 9 Sep 2021
- Last updated
- 30 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders
- ClinicalTrials.gov ID
- NCT05049967
- Acronym / sponsor ID
- iKnow / ILMN-iKnow
- Conditions
- Genetic Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Illumina, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Medical College of Wisconsin
- Study start
- 9 Nov 2021 (actual)
- Primary completion
- 10 Dec 2021 (actual)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 20 Sep 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (17 listed)
- 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, 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
Key exclusion criteria (5 listed)
- Undiagnosed probands must not meet any:
- 1. Principal Investigator decides that the study is not in the best interest of the proband
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Time frame: 120 Days
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
3 secondary outcomes
Number of diagnoses yielded by each of the different orthogonally confirmed assay results
Time frame: 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
Time frame: 120 Days
Data utilization of multi-omic dataset for scientific community
Time frame: 120 Days
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2024.
Related trials for Genetic Disease
Recruiting
Effect of a Fermented Dairy Protein With Prebiotic Fiber on GI Complaints
Digestive Health, Quality of Life
RecruitingObservational study
NIAID Centralized Sequencing Protocol
Atopy, Primary Immunodeficiency
RecruitingObservational study
HPC Offered for PRESERVE Expansion
Bone Marrow Transplant (BMT)
RecruitingObservational study
Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
Enrolling by invitationObservational study
Head and Neck Cancer Strategies
Head and Neck Cancer (H&N), Thyroid Cancer
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ali Crawford, PhD study director
Illumina, Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease, run by Illumina, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 17 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 30 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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 (time frame: 120 Days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Apr 2024.