Genomic First Testing in Chronic Kidney Disease

NCT ID: NCT06794567

Last Updated: 2025-01-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

2400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-03-01

Study Completion Date

2028-12-31

Brief Summary

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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

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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.

Conditions

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Chronic Kidney Disease(CKD) Genetic Kidney Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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< 1 year since diagnosis of kidney disease

Genetic Testing

Intervention Type DIAGNOSTIC_TEST

Early access to genetic testing.

> 1 year since diagnosis of kidney disease

Genetic Testing

Intervention Type DIAGNOSTIC_TEST

Early access to genetic testing.

Interventions

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Genetic Testing

Early access to genetic testing.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

1. A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
2. Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
3. Index participant or substitute decision maker (SDM) can provide informed consent to participate.


1. Family/caregiver or SDM can provide informed consent to participate AND
2. Related patient participant must be enrolled in the study.



1. Patient participant who is enrolled in the main study.
2. 18 years or older.
3. The guardian for a minor

Exclusion Criteria

1. Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
2. Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.

Family Members:


1. Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
2. Related patient participant is not enrolled in the study.

Healthcare Provider:


1\. Is not a referring healthcare provider.

Qualitative Sub-Study:


1. \<18 years of age unless the guardian can conduct the interview
2. Patient participant who is not enrolled in the main study.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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London Health Sciences Centre

OTHER

Sponsor Role collaborator

London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's

OTHER

Sponsor Role collaborator

Dervla Connaughton

OTHER

Sponsor Role lead

Responsible Party

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Dervla Connaughton

Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Locations

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London Health Sciences Centre

London, Ontario, Canada

Site Status

Countries

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Canada

Central Contacts

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Dervla Connaughton, MD

Role: CONTACT

519-685-8500

Sydney Relouw, MSc

Role: CONTACT

519-685-8500 ext. 34769

Facility Contacts

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Dervla Connaughton, MD

Role: primary

519-685-8500

Sydney Relouw

Role: backup

519-685-8500 ext. 34769

Dervla Connaughton, MD

Role: backup

Other Identifiers

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Genomic First Testing in CKD

Identifier Type: -

Identifier Source: org_study_id

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