Genomic First Testing in Chronic Kidney Disease | NCT06794567

Studies
Genomic First Testing in Chronic Kidney Disease

NCT06794567

Sponsor

Dervla Connaughton

Status

Not yet recruiting

Last Update Posted

Jan 27, 2025Actual

Enrollment

2,400Estimated

Phase

Not provided

Conditions

Chronic Kidney Disease(CKD)
Genetic Kidney Disease

Interventions

Genetic Testing

Countries

Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jan 2025

Overall Recruitment Status or Expanded Access Status

Not yet recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 1, 2025Estimated

Primary Completion Date

Dec 31, 2027Estimated

Completion Date

Dec 31, 2028Estimated

First Submitted Date

Jan 8, 2025

First Submission Date that Met QC Criteria

Jan 21, 2025

First Posted Date

Jan 27, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 21, 2025

Last Update Posted Date

Jan 27, 2025Actual

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

Description Module

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

2,400Estimated

Label	Type	Description	Intervention Names
< 1 year since diagnosis of kidney disease			Diagnostic Test: Genetic Testing
> 1 year since diagnosis of kidney disease			Diagnostic Test: Genetic Testing

Name	Type	Description	Arm Group Labels	Other Names
Genetic Testing	Diagnostic Test	Early access to genetic testing.	< 1 year since diagnosis of kidney disease > 1 year since diagnosis of kidney disease

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Patients:

Inclusion Criteria:

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.

Exclusion Criteria:

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:

Inclusion Criteria:

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

Exclusion Criteria:

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:

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:

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

Exclusion Criteria:

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients, Family Members, Healthcare providers

Sampling Method

Non-Probability Sample

Name	Role	Phone	Extension	Email
Dervla Connaughton, MD	Contact	519-685-8500		dervla.connaughton@lhsc.on.ca
Sydney Relouw, MSc	Contact	519-685-8500	34769	sydney.relouw@lhsc.on.ca

ID	Term
D051437	Renal Insufficiency
D007674	Kidney Diseases
D014570	Urologic Diseases
D052776	Female Urogenital Diseases

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques