Clinical trial NCT06794567: Genomic First Testing in Chronic Kidney Disease
Official title: Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Chronic Kidney Disease(CKD)
Genetic Kidney Disease
Keywords: Chronic Kidney Disease
Genetic Testing
Genome wide sequencing
Lead sponsor: London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Sponsor class: OTHER
Collaborators: name: London Health Sciences Centre
name: London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
First posted: 2025-01-27
Enrollment: 2400
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients, Family Members, Healthcare providers

Brief 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. 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.

Eligibility criteria: Patients:

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.

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:

Inclusion Criteria:

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

Exclusion Criteria:

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:

Inclusion Criteria 1. Provided a referral for at least one study participant.

Exclusion Criteria:

1. Is not a referring healthcare provider.

Qualitative Sub-Study:

Inclusion Criteria:

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

Exclusion Criteria:

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

Primary outcomes:
measure: Diagnostic yield and time to diagnosis
timeFrame: Study duration
Secondary outcomes:
Other outcomes:
Locations:
city: London
country: Canada
facility: London Health Sciences Centre
state: Ontario
Study officials:
References: