Genomic First Testing in Chronic Kidney Disease

ConditionsChronic Kidney Disease(CKD)Genetic Kidney Disease

Trial statusNot yet recruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorDervla Connaughton

About this trial

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

This trial accepts healthy volunteers

Qualifiers

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.

Disqualifiers

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 can provide informed consent to participate AND

Related patient participant must be enrolled in the study.

Trial population

Patients, Family Members, Healthcare providers

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Genetic Testing
Diagnostic test
Early access to genetic testing.

Treatment groups

2,400 Participants

are divided into 2 treatment groups

Group A: < 1 year since diagnosis of kidney disease1 intervention

Group B: > 1 year since diagnosis of kidney disease1 intervention

Trial outcomes

Primary outcomes

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

Time frame

Study duration

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Dervla Connaughton

Lead sponsor

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

Sponsor institution

London Health Sciences Centre

Collaborator