Genomic First Testing in Chronic Kidney Disease

NCT06794567 | Not Yet Recruiting

• 1 other identifier: Genomic First Testing in CKD
• Study Type: observational
• Target: 2,400
• Locations: 1 country
• Sites: 1

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.

Conditions

Chronic Kidney Disease(CKD); Genetic Kidney Disease

Keywords

Chronic Kidney Disease; Genetic Testing; Genome wide sequencing

Outcome Measures

Primary Outcomes (1)

• 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

  Study duration

Study Arms (2)

< 1 year since diagnosis of kidney disease

Diagnostic Test: Genetic Testing

> 1 year since diagnosis of kidney disease

Diagnostic Test: Genetic Testing

Interventions

Genetic Testing DIAGNOSTIC_TEST

Early access to genetic testing.

< 1 year since diagnosis of kidney disease; > 1 year since diagnosis of kidney disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients, Family Members, Healthcare providers

You may qualify if:

• 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.

You may not qualify if:

• 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 can provide informed consent to participate AND
• Related patient participant must be enrolled in the study.
• 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:
• \. Is not a referring healthcare provider.
• Qualitative Sub-Study:
• Patient participant who is enrolled in the main study.
• years or older.
• The guardian for a minor
• \<18 years of age unless the guardian can conduct the interview
• Patient participant who is not enrolled in the main study.

Sponsors & Collaborators

• Dervla Connaughton: lead
• London Health Sciences Centre: collaborator
• London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's: collaborator

Study Sites (1)

London Health Sciences Centre

London, Ontario, N6A 5A5, Canada

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA extracted from blood and saliva samples.

MeSH Terms

Conditions

Renal Insufficiency, Chronic

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

Dervla Connaughton, MD

CONTACT

519-685-8500; dervla.connaughton@lhsc.on.ca

Sydney Relouw, MSc

CONTACT

519-685-8500; sydney.relouw@lhsc.on.ca

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 8, 2025
• First Posted: January 27, 2025
• Study Start: March 1, 2025
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2028
• Last Updated: January 27, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will not share

Locations

CA (1)