GENomic Predictors in A Multi-Ethnic Population With Kidney Disease Study (Genie)

To establish a prospective, longitudinal cohort of participants who can provide blood, tissue (including kidney histology), urine samples to establish a core biobank for kidney disease research. Results from this biobank will be matched to clinical outcomes to facilitate the discovery (and/or validation) of novel prognostic, predictive or diagnostic biomarkers important for kidney disease.

Study Overview

• Status: Enrolling by invitation
• Conditions: Kidney Disease

Detailed Description

Hypothesis:

Genetic ancestry influences the enrichment of certain polymorphisms, which may have important protective or adverse effects on important kidney related outcomes, including developing chronic kidney disease, progression to kidney failure, and/or poor long-term outcomes following kidney transplantation.

Aims:

To establish a prospective, longitudinal cohort of participants who can provide blood, tissue (including kidney histology), urine samples to establish a core biobank for kidney disease research. Results from this biobank will be matched to clinical outcomes to facilitate the discovery (and/or validation) of novel prognostic, predictive or diagnostic biomarkers important for kidney disease. Data from this cohort will be used to determine if genomic factors independently influence:

1. The susceptibility to developing acute kidney injury (AKI) and the severity of AKI.
2. The development of chronic kidney disease (CKD), and the complications of CKD
3. The progression to kidney failure (needing dialysis or transplant) and complications of kidney failure?
4. The risk of treatment failure (or resistance) to standard medical therapy for any of the above (1-4)?

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

Study Locations

• Australia
  • New South Wales
    • Sydney, New South Wales, Australia, 2000
      • Royal Prince Alfred Hospital
    • Westmead, New South Wales, Australia, 2145
      • Westmead Hospital
    • Westmead, New South Wales, Australia, 2145
      • Westmead Institute for Medical Research
  • Western Australia
    • Nedlands, Western Australia, Australia, 6009
      • Sir Charles Gairdner Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Australian participants - health and kidney disease (groups described earlier)

Description

Inclusion Criteria:

• Age ≥ 18 years old at time of enrolment
• Able to provide consent
• Either have kidney disease at time of enrolment or not have kidney disease but has at least one risk factor for kidney disease (eg family history, hypertension, diabetes, smoking, stones, nephrotoxin use)
• Consent to longitudinal follow up at enrolment
• Consent to providing blood samples at enrolment

Exclusion Criteria:

• Unable or unwilling to provide consent
• life-expectancy less than 6-months
• received haematopoietic stem cell transplant in the past 5 years

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Group 1 - Healthy participants (without established kidney disease); eGFR > 60ml/min/1.73m2, UACR < 3 mg/mmol (or UPCR < 10 mg/mmol) Has risk factors for kidney disease, including any of the following: Family history of kidney disease (CKD, dialysis or transplant) Any history of acute kidney injury or eGFR decline from baseline Established diabetes, hypertension, stroke, heart disease or heart failure Current or ex-smoker, overweight (BMI > 25) or obesity (BMI > 30)
Group 2 - Participants with established chronic kidney disease (CKD); eGFR ≤ 60ml/min/1.73m2 (over minimum 3-month period), or UACR > 30mg/mmol (or PCR > 100mg/mmol). CKD can be from any cause/aetiology.
Group 3 - Participants with kidney failure and are on dialysis; Patients established on peritoneal dialysis or haemodialysis for at least 3 months

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Development of CKD	Group 1 develops eGFR ≤ 60ml/min/1.73m2 (or biopsy proven kidney disease) ≥ 3-months, or albuminuria or proteinuria (UACR > 3mg/mmol or UPCR > 10mg/mmol) ≥ 3-months	20 years
Progression of CKD	For group 2, defined by eGFR decline ≥ 30% from baseline for ≥ 3 months, or eGFR decline to below 15ml/min/1.73m2 if baseline eGFR > 30ml/min/1.73m2, or the need for renal replacement therapy	20 years
Removal from dialysis	For group 3 - either death (survival time on dialysis) if they do not receive a kidney transplant during the study, or if they receive a kidney transplant	20 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Death	death from any cause	20 years
Hospital Admissions	Hospital or emergency department visits for any reason	20 years
estimated glomerular filtration rate slope	change in eGFR over time	10 and 20 year time points
Cardiovascular event or major risk factors	(MACE): non-fatal stroke, non-fatal myocardial infarction, cardiovascular death. Major risk factors: diabetes mellitus, dyslipidaemia, obesity, hypertension	20 years
Major infectious events	bacterial, fungal or viral infection which necessitates hospital admission or medical attention	20 years
Malignancy	any cancer diagnosis following enrolment	20 years
acute kidney episodes	acute kidney episodes (defined by KDIGO criteria), registry code or clinician assignment for group 1 or 2	20 years
Dialysis dose	time on dialysis (hours/days) and dialysis prescription (if available)	10 years

Collaborators and Investigators

• Sponsor: Western Sydney Local Health District

Study record dates

Study Major Dates

• Study Start (Actual): February 10, 2025
• Primary Completion (Estimated): January 1, 2040
• Study Completion (Estimated): January 1, 2050

Study Registration Dates

• First Submitted: February 10, 2025
• First Submitted That Met QC Criteria: February 10, 2025
• First Posted (Actual): February 14, 2025

Study Record Updates

• Last Update Posted (Actual): July 17, 2025
• Last Update Submitted That Met QC Criteria: July 14, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: kidney
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Kidney Diseases
• Other Study ID Numbers: GENIE Study

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Confidential information and data sharing requires additional ethics submission or individual participant consent

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No