Renasight Clinical Application, Review and Evaluation (RenaCARE) Study

Study Overview
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Brief Summary
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This study is an open-label, multi-center study evaluating the clinical utility of Renasight in the diagnosis and management of kidney disease.

Detailed Description
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Patients who are prospectively enrolled in the study will have blood or buccal swab samples sent to the Natera clinical lab for Renasight testing at the time of enrollment. Physicians will receive Renasight test results which may be used in clinical decision-making. At enrollment and at 1 month and 1 year following enrollment, clinical data will be submitted, and physician and subject questionnaires will be completed. Additional clinical follow-up and patient questionnaires may be completed at 2 and 3 years following enrollment.

Official Title
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Renasight Clinical Application, Review and Evaluation (RenaCARE) Study

Conditions
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Kidney Diseases

Intervention / Treatment
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* Diagnostic Test: Renasight


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients must meet all the following selection criteria to be eligible for the study. Eligibility will be assessed by the investigator: Male or female patients, age 18 years or older at the time of signing the informed consent form (ICF). If over the age of 65, patient must have a family history of CKD or clinical suspicion of genetic disorder. Able to read, understand, and provide written informed consent Willing and able to comply with the study-related procedures Diagnosis of kidney disease, and/or one of the following without any kidney biopsy (note: can be newly diagnosed or existing patient): Nephropathy associated with Diabetes Mellitus (DM)* Nephropathy associated with Hypertension* Cystic nephropathy* Congenital nephropathy Tubulointerstitial disease of unknown etiology Proteinuric disease suggestive of a primary glomerulopathy by clinical evaluation Early, severe or familial hypertension Thrombotic microangiopathy Electrolyte and acid base disorder Nephrolithiasis with family history CKD of unknown cause after standard nephrological evaluation End stage kidney disease (ESRD) *Total number of patients in each of these categories will not exceed 10% of total cohort Exclusion Criteria: Patients are not eligible for the study if they meet any of the following criteria, as assessed by the investigator: Age less than 18, or greater than 65 without a family history of CKD or clinical suspicion of genetic disorder History of renal transplant Clinical features and a kidney biopsy diagnosis strongly indicative of a secondary nephropathy (e.g., diabetic nephropathy, lupus nephritis, acute kidney injury) Previously confirmed diagnosis of a hereditary kidney disease via genetic testing.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Renacare patients<br>Male or female patients, age 18 years or older at the time of signing the informed consent form (ICF). If over the age of 65, patient must have a family history of CKD or clinical suspicion of genetic disorder. Diagnosis of kidney disease | Diagnostic Test: Renasight<br>* The Renasight™ test is a next generation sequencing (NGS) gene mutation assay for patients with chronic kidney disease (CKD) which utilizes genomic DNA from patient blood or buccal swab samples to analyze over 380 genes that are associated with autosomal dominant, autosomal recessive and X-linked disorders. Patients undergoing Renasight™ testing are offered optional genetic information sessions in addition to their test results. RenasightTM is a commercially available Laboratory Developed Test (LDT) certified under the Clinical Laboratory Improvement Amendments (CLIA). This test has not been cleared or approved by the U.S. Food and Drug Administration (FDA).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Test Positive Prevalence: The frequency of positive test results across the entire cohort and within different categories of kidney disorders will be analyzed. | Frequency of positive test results is defined as the number of patients in a given category with a genetic finding on Renasight divided by the total number of patients in that category. Changes in diagnosis from baseline physician questionnaire to post-result physician questionnaire will be classified | Within 3 months of recruitment close | 
| Frequency of positive test results of Renasight compared to frequency of positive test results of phenotypic panels | The frequency of positive test results of the Renasight panel will be compared to phenotype-specific commercial panels virtually reconstructed from the Renasight gene content. The frequency of positive test results will also be compared across different clinical categories of disease in the study population. | Within 6 months of recruitment close | 
| Number of participants with changed treatment or clinical management and new clinical diagnoses established based on Renasight test results. | The enrolling physician will complete baseline questionnaires, 1-month post-result questionnaires, and 1-year follow-up questionnaires. Changes to pre-result planned management as well as new diagnostic information will be assessed. Pre-result and post-result surveys will be reviewed for all subjects, regardless of test results. | Within 3 years and 6 months of recruitment close | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Evaluate the impact of Renasight on patient satisfaction, health knowledge and genetics literacy. | Pre- and post-results questionnaires will be assessed for associations between genetic testing and psychological wellbeing and the impact on genetic testing on healthcare utilization. Genetic literacy pre- and post-results will be compared. | Within 2 years of recruitment close | 
| Evaluate the impact of Renasight on family outcomes. | Results of the post-results survey will be analyzed to determine the number of family members who have undergone screening and diagnosis as a result of genetic testing. | Within 2 years of recruitment close | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Chronic Kidney Disease