Clinical trial NCT05607797: Genetic of Chronic Kidney Disease and Gout in New Caledonia
Official title: Genetic of Chronic Kidney Disease and Gout : Analysis of Melanesian Families From New Caledonia
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Gout
Renal Insufficiency, Chronic
Keywords: Gout
Renal Insufficiency Chronic
New Caledonia
Lead sponsor: Lille Catholic University
Sponsor class: OTHER
Collaborators: name: Variant Bio, Inc.
First posted: 2022-11-07
Enrollment: 1858
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: 3 groups of participants :

* Patients with gout
* Patients with CKD
* Controls
Primary purpose: OTHER

Brief summary: The goal of this research is to study the associations of genetic variants of gout and kidney failure, which are very common in the Melanesian population in New Caledonia

Detailed description: Gout is a chronic pathology linked to the deposition in the tissues of monosodium urate (MSU) crystals, secondary to hyperuricemia (high blood levels of urate). Gout causes very painful joint attacks that are first acute and then lead to chronic pain, and disabling deforming manifestations called tophus. The disease is strongly associated with cardiovascular comorbidities and chronic renal failure.

In New Caledonia, the prevalence of chronic kidney disease (CKD) (according to the glomerular filtration rate (GFR) \< 60 ml/min) was of 7.4% in 2015 (according to the epidemiological study "Barometer Health 2015"). In the Loyalty Islands, which has overall significantly more Melanesian population, a local database showed that in 2018 the prevalence of patients having at least one blood test reporting kidney disease (GFR CKD\< 60 ml/min) and seen at least once in the previous two years was as follows:

* 7.7% in Lifou (9,200 inhabitants)
* 8.4% in Maré (5,700 inhabitants)
* 9.1% in Ouvéa (3,400 inhabitants) In summary, inflammatory diseases such as CKD and gout have high prevalence in New Caledonia and the Loyalty Islands, and constitute a major health issue. Although the high prevalence of these diseases is probably due in part to non-genetic factors (environment, diet, etc.), it is likely, given the demographic history of this region, that undetected genetic risk alleles among the Melanesian population contribute to the appearance and progression of diseases. Performing genetic and epidemiological studies in an as yet understudied region is essential to identify these variants, which could lead to improved diagnoses and health outcomes.

Eligibility criteria: Inclusion Criteria:

Criteria common to the 3 cohorts :

- Consenting to participate in the study and having signed the informed consent

- Claiming to be of Melanesian ethnicity

1. Patients with gout :

   * Age: 18 - 70 years old
   * To be included in the study, a patient with a diagnosis of gout in his medical file or declaring to have gout will have to satisfy to the ACR/EULAR (ref) classification criteria :

     1. have had at least one episode of swelling, pain spontaneous, or triggered by pressure, of a joint peripheral or a bursa AND evidence of sodium urate crystals in a joint or bursitis symptomatic or by puncture of a tophus reported in his medical file.
     2. Or Score \> or =8 according to ACR/EULAR clinical criteria
2. Patients with CKD

   * Age: 18 - 70 years old
   * Patients on dialysis or CKD clinically diagnosed on the basis of:

     1. Markers of kidney damage (one or more) : Albuminuria (ACR ≥ 30 mg/g), Urinary sediment abnormalities (e.g., casts urinary), Electrolyte abnormalities and other, abnormalities due to tubular disorders (eg, hyperkalemia), abnormalities detected by histology, structural abnormalities detected by imaging (e.g.,USG), history of kidney transplantation
     2. Decreased kidney function: GFR \< 60 ml/min/1.73 m² (calculated according to the Chronic Kidney Disease - EPIdemiology formula: CKD-EPI)
3. Controls cohort

   * Absence of gout or CKD
   * Age: 30 - 80 years old

Exclusion Criteria:

* Pregnant women
* Individuals under guardianship / curatorship / judicially incapacitated

Primary outcomes:
measure: Genome-wide association study (GWAS) in gout
timeFrame: 8 months
measure: Phenome-wide association studies (PheWAS) in gout
timeFrame: 8 months
measure: GWAS in CKD
timeFrame: 8 months
measure: PheWAS in CKD
timeFrame: 8 months
Secondary outcomes:
measure: Metabolomic profile in gout
timeFrame: 8 months
measure: Metabolomic profile in CKD
timeFrame: 8 months
measure: GWAS and severity of CKD according to glomerular filtration rate (GFR)
timeFrame: 8 months
measure: GWAS and severity of gout
timeFrame: 8 months
measure: Relation between CKD and sex
timeFrame: 8 months
measure: Relation between gout and sex
timeFrame: 8 months
measure: Relation between CKD and age
timeFrame: 8 months
measure: Relation between gout and age
timeFrame: 8 months
measure: Relation between CKD and Body Mass Index (BMI)
timeFrame: 8 months
measure: Link between gout and Body Mass Index (BMI)
timeFrame: 8 months
measure: Relation between CKD and the Body Fat Percentage
timeFrame: 8 months
measure: Relation between gout and the Body Fat Percentage
timeFrame: 8 months
measure: Relation between CKD and Muscle Mass Percentage
timeFrame: 8 months
measure: Relation between gout and Muscle Mass Percentage
timeFrame: 8 months
measure: Relation between CKD and Basal Metabolism
timeFrame: 8 months
measure: Relation between gout and Basal Metabolism
timeFrame: 8 months
measure: Relation between CKD and Visceral Fat Percentage
timeFrame: 8 months
measure: Relation between gout and Visceral Fat Percentage
timeFrame: 8 months
measure: Relation between CKD and height
timeFrame: 8 months
measure: Relation between gout and height
timeFrame: 8 months
measure: Relation between CKD and waist size
timeFrame: 8 months
measure: Relation between gout and waist size
timeFrame: 8 months
measure: Relation between CKD and hip circumference
timeFrame: 8 months
measure: Relation between gout and hip circumference
timeFrame: 8 months
measure: Relation between CKD and waist/hip ratio
timeFrame: 8 months
measure: Relation between gout and waist/hip ratio
timeFrame: 8 months
measure: Mendelian randomization
timeFrame: 8 months
Other outcomes:
Locations:
city: Nouméa
country: New Caledonia
facility: Medical Center of Wé (Lifou Island)
Study officials:
affiliation: Hôpital Lariboisière
name: Thomas BARDIN
role: PRINCIPAL_INVESTIGATOR
References: