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OpenTrials
Completed

NCT Number: NCT05607797

Genetic of Chronic Kidney Disease and Gout in New Caledonia

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

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Key information

Conditions

Gout Arthritis Chronic Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Crystal Arthropathies Disease Attributes Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Joint Diseases Kidney Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Diseases Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Purine-Pyrimidine Metabolism, Inborn Errors Renal Insufficiency Renal Insufficiency, Chronic Rheumatic Diseases Urogenital Diseases Urologic Diseases

Age range

18 year–80 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Medical Center of Wé (Lifou Island)

Noumea, New Caledonia

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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
  • 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 :
  • 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.
  • Or Score > or =8 according to ACR/EULAR clinical criteria
  • Patients with CKD
  • Age: 18 - 70 years old
  • Patients on dialysis or CKD clinically diagnosed on the basis of:
  • 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
  • Decreased kidney function: GFR < 60 ml/min/1.73 m² (calculated according to the Chronic Kidney Disease - EPIdemiology formula: CKD-EPI)
  • Controls cohort
  • Absence of gout or CKD
  • Age: 30 - 80 years old

Exclusion criteria

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

Treatment and study plan

Epidemiological study

Other

Sociodemographic data collection, treatments collection, physical assessment, clinical examination and physical and biological measurements, biological evaluation (blood and urine samples), CKD-specific clinical features collection, gout-specific clinical features collection, clinical characteristics specific to chronic diseases, questionnaires (Health Assessment Questionnaire (HAQ-II), EuroQol (EQ)-5D-5L, joint pain, state of health, diet and physical activity, access to care, addictions, pain scale (EVA), personal and family history)

Primary outcomes

  1. Genome-wide association study (GWAS) in gout

    Time frame: 8 months

    GWAS is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait. Once such genomic variants are identified, they are typically used to search for nearby variants that contribute directly to the disease or trait.

  2. Phenome-wide association studies (PheWAS) in gout

    Time frame: 8 months

    PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).

  3. GWAS in CKD

    Time frame: 8 months

    Genome-wide association study (GWAS) and Phenome-wide association studies (PheWAS) will be used. GWAS is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific disease or trait compared to those without the disease or trait. Once such genomic variants are identified, they are typically used to search for nearby variants that contribute directly to the disease or trait. PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).

  4. PheWAS in CKD

    Time frame: 8 months

    PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute).

Secondary outcomes

  1. Metabolomic profile in gout

    Time frame: 8 months

    Metabolomics profiling will be conducted using ultrahigh-performance liquid chromatography-tandem mass-spectrometry by the metabolomics provider Metabolon Inc. (USA) on fasting serum samples from participants. The metabolomic dataset measured by Metabolon includes known metabolites containing the following broad categories - amino-acids, peptides, carbohydrates, energy intermediates, lipids, nucleotides, cofactors and vitamins, and xenobiotics.

  2. Metabolomic profile in CKD

    Time frame: 8 months

    Metabolomics profiling will be conducted using ultrahigh-performance liquid chromatography-tandem mass-spectrometry by the metabolomics provider Metabolon Inc. ( USA) on fasting serum samples from participants. The metabolomic dataset measured by Metabolon includes known metabolites containing the following broad categories - amino-acids, peptides, carbohydrates, energy intermediates, lipids, nucleotides, cofactors and vitamins, and xenobiotics.

  3. GWAS and severity of CKD according to glomerular filtration rate (GFR)

    Time frame: 8 months

    GWAS will be used to identify genomic variants that are statistically associated with severity. Stage of severity according to GFR (mL/min/1.73m2):

    • Mild renal impairment with normal or increased filtration : Over 90
    • Mild decrease in renal function : 60-89
    • Moderate decrease in renal function : 30-59
    • Severe decrease in renal function : 15-29
    • Renal failure: Less than 15 (or dialysis)

  4. GWAS and severity of gout

    Time frame: 8 months

    GWAS will be used to identify genomic variants that are statistically associated with severity.

    Severity will be defined using four binary variables: number of attacks (cutoff six attacks per year), presence of clinical tophus (yes or no), uric acid level (>80 mg/L or 480 micromol/L) and age of onset (<30 years) .

  5. Relation between CKD and sex

    Time frame: 8 months

    Relation between CKD and sex (Male/ Female)

  6. Relation between gout and sex

    Time frame: 8 months

    Relation between gout and sex (Male/ Female)

  7. Relation between CKD and age

    Time frame: 8 months

    Relation between CKD and age

  8. Relation between gout and age

    Time frame: 8 months

    Relation between gout and age

  9. Relation between CKD and Body Mass Index (BMI)

    Time frame: 8 months

    Relation between CKD and Body Mass Index (BMI) in kg/m^2

  10. Link between gout and Body Mass Index (BMI)

    Time frame: 8 months

    Link between gout and Body Mass Index (BMI) in kg/m^2

  11. Relation between CKD and the Body Fat Percentage

    Time frame: 8 months

    Relation between CKD and the Body Fat Percentage in Percentage (%)

  12. Relation between gout and the Body Fat Percentage

    Time frame: 8 months

    Relation between gout and the Body Fat Percentage in Percentage (%)

  13. Relation between CKD and Muscle Mass Percentage

    Time frame: 8 months

    Relation between CKD and Muscle Mass Percentage in Percentage (%)

  14. Relation between gout and Muscle Mass Percentage

    Time frame: 8 months

    Relation between gout and Muscle Mass Percentage in Percentage (%)

  15. Relation between CKD and Basal Metabolism

    Time frame: 8 months

    Relation between CKD and Basal Metabolism in Joules

  16. Relation between gout and Basal Metabolism

    Time frame: 8 months

    Relation between gout and Basal Metabolism in Joules

  17. Relation between CKD and Visceral Fat Percentage

    Time frame: 8 months

    Relation between CKD and Visceral Fat Percentage in Percentage

  18. Relation between gout and Visceral Fat Percentage

    Time frame: 8 months

    Relation between gout and Visceral Fat Percentage in Percentage

  19. Relation between CKD and height

    Time frame: 8 months

    Relation between CKD and height in meters

  20. Relation between gout and height

    Time frame: 8 months

    Relation between gout and height in centimeters

  21. Relation between CKD and waist size

    Time frame: 8 months

    Relation between CKD and waist size in centimeters

  22. Relation between gout and waist size

    Time frame: 8 months

    Relationbetween gout and waist size in centimeters

  23. Relation between CKD and hip circumference

    Time frame: 8 months

    Relation between CKD and hip circumference in centimeters

  24. Relation between gout and hip circumference

    Time frame: 8 months

    Relation between gout and hip circumference in centimeters

  25. Relation between CKD and waist/hip ratio

    Time frame: 8 months

    Relation between CKD and waist/hip ratio

  26. Relation between gout and waist/hip ratio

    Time frame: 8 months

    Relation between gout and waist/hip ratio

  27. Mendelian randomization

    Time frame: 8 months

    Mendelian randomization uses measured variation in genes to interrogate the causal effect of an exposure on comorbidities development

Sponsors and collaborators

Lead sponsor

Lille Catholic University

Other

Collaborators

  • Variant Bio, Inc.

Registry information

Official study title

Genetic of Chronic Kidney Disease and Gout : Analysis of Melanesian Families From New Caledonia

Acronym: CALEDGOUTCKD

Important dates

Study start
2023
Primary completion
2024
Study completion
2024
First posted
Nov 7, 2022
Registry last updated
Nov 27, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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