Chronic Kidney Disease(CKD)NCT06794567
Genomic First Testing in Chronic Kidney Disease
An observational study of Chronic Kidney Disease(CKD) and Genetic Kidney Disease, run by Dervla Connaughton at 1 site in Canada.
Trial summary
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Chronic Kidney Disease(CKD), Genetic Kidney Disease
- What is being tested?
- Genetic Testing
- How many people
- 2,400 participants
- Where
- 1 siteCanada
- Study dates
- 1 Mar 2025to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Patients, Family Members, Healthcare providers
Who may be able to join
- A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
- Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
- Index participant or substitute decision maker (SDM) can provide informed consent to participate.
- Family/caregiver or SDM can provide informed consent to participate AND
- Related patient participant must be enrolled in the study.
- Patient participant who is enrolled in the main study.
- 18 years or older.
- The guardian for a minor
Who cannot join
- Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.
- Family Members:
- Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Related patient participant is not enrolled in the study.
- Healthcare Provider:
Show all 11Show fewer
- Inclusion Criteria 1. Provided a referral for at least one study participant.
- 1. Is not a referring healthcare provider.
- Qualitative Sub-Study:
- <18 years of age unless the guardian can conduct the interview
- Patient participant who is not enrolled in the main study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Canada1 site
London Health Sciences Centre
London, Ontario, N6A 5A5
Dervla Connaughton, MD, 519-685-8500, dervla.connaughton@lhsc.on.ca
Sydney Relouw, 519-685-8500 ext. 34769, sydney.relouw@lhsc.on.ca
About this study
Official title: Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.
To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.
Read more
Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.
The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
Read the detailed description
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.
To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.
Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.
The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
- Being tested
- Genetic Testing
- Keywords
- Chronic Kidney Disease, Genetic Testing, Genome wide sequencing
- Medical subject headings
- Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic TestingDiagnostic test
Early access to genetic testing.
| Study group | Role | What they receive |
|---|---|---|
| < 1 year since diagnosis of kidney disease | Not described Receives: Diagnostic Test: Genetic Testing | |
| > 1 year since diagnosis of kidney disease | Not described Receives: Diagnostic Test: Genetic Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic yield and time to diagnosis
Our primary outcome is to address the need for high diagnostic yields and short times to diagnosis for chronic kidney disease as highlighted by our patient partner board by comparing a genome-wide sequencing approach to the standard genetic testing in patients at risk of genetic kidney disease
Measured: Study duration
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2025
- Study start1 Mar 2025 (estimated)
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chronic Kidney Disease(CKD)Studies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Dervla Connaughton
- Sponsor type
- University, hospital or other
- Collaborators
- London Health Sciences Centre, London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
- Responsible party
- Sponsor-investigator, Dervla Connaughton, London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06794567
- Sponsor's protocol ID
- Genomic First Testing in CKD
- Status last verified
- Jan 2025
- First submitted
- 8 Jan 2025
- Last updated
- 27 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment
- ClinicalTrials.gov ID
- NCT06794567
- Acronym / sponsor ID
- Genomic First Testing in CKD
- Keywords
- Chronic Kidney Disease, Genetic Testing, Genome wide sequencing
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 2,400 participants (estimated)
- Lead sponsor
- Dervla ConnaughtonUniversity, hospital or other
- Collaborators
- London Health Sciences Centre, London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
- Study start
- 1 Mar 2025 (estimated)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 27 Jan 2025 (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.
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.
To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.
Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.
The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
Detailed description
This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease.
To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use.
Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group.
The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| < 1 year since diagnosis of kidney disease | – | Diagnostic Test: Genetic Testing |
| > 1 year since diagnosis of kidney disease | – | Diagnostic Test: Genetic Testing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients, Family Members, Healthcare providers
Key inclusion criteria (8 listed)
- A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
- Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
- Index participant or substitute decision maker (SDM) can provide informed consent to participate.
- Family/caregiver or SDM can provide informed consent to participate AND
- Related patient participant must be enrolled in the study.
Key exclusion criteria (11 listed)
- Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.
- Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- Related patient participant is not enrolled in the study.
- Inclusion Criteria 1. Provided a referral for at least one study participant.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic TestingEarly access to genetic testing. | Diagnostic test | < 1 year since diagnosis of kidney disease, > 1 year since diagnosis of kidney disease |
Primary outcome
Diagnostic yield and time to diagnosis
Time frame: Study duration
Our primary outcome is to address the need for high diagnostic yields and short times to diagnosis for chronic kidney disease as highlighted by our patient partner board by comparing a genome-wide sequencing approach to the standard genetic testing in patients at risk of genetic kidney disease
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2025.
- Individual participant dataSharing planned: No
Related trials for Chronic Kidney Disease(CKD)
Enrolling by invitationObservational study
Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates 2.0
Acute Kidney Injury, Fluid Overload
Not yet recruitingPhase 2
Mitigating DKA in Type 1 Diabetes for Safe Use of SGLT Inhibitors Using Dual Continuous Ketone and Glucose Monitoring.
Type 1 Diabetes Mellitus, Chronic Kidney Disease (CKD) With Diabetes Mellitus (DM)
Enrolling by invitationObservational study
Strategies for Proactive Health in People With Kidney Function Decline
Renal Insufficiency,Chronic, Dietary Intake Patterns
Not yet recruitingPhase 3
A Study of PLS240 in Pediatric Participants With Secondary Hyperparathyroidism and Chronic Kidney Disease on Hemodialysis
Chronic Kidney Disease (CKD), Secondary Hyperparathyroidism
Not yet recruitingObservational study
A Study to Learn More About How Well Finerenone Works in Real-world in People With Type 2 Diabetes and Chronic Kidney Disease in Primary Care (IMSS= Instituto Mexicano Del Seguro Social)
Type 2 Diabetes, Chronic Kidney Disease (CKD) Stages G2 to G3b
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.
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 Chronic Kidney Disease(CKD) and Genetic Kidney Disease, run by Dervla Connaughton at 1 site in Canada.
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 8 inclusion and 11 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: opening soon, as of the sponsor's last update on 27 Jan 2025. 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 Canada. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dervla Connaughton, MD (519-685-8500, dervla.connaughton@lhsc.on.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic yield and time to diagnosis (time frame: Study duration). 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 27 Jan 2025; AzTrials last refreshed its copy on 30 Oct 2026.