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| Name | Class |
|---|---|
| Variant Bio, Inc. | INDUSTRY |
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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
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with gout | Experimental | Patients aged 18-70 with gout diagnosis in their medical record or claiming to have gout according to ACR/EULAR (American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) criteria. |
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| Patients with CKD | Experimental | Patients aged 18-70, in dialysis or with CKD clinically diagnosed on the basis of markers of kidney damage or decreased kidney function. Patients will be recruited in dialysis centers of Wé and Maré and during the monthly nephrology consultations in medical centers. |
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| Control group | Placebo Comparator | Persons aged 30-80 without gout or CKD. The recruitment will be done among people visiting the medical centers of Lifou and Maré for administrative or vaccination reasons. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Genome-wide association study (GWAS) in gout | 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. | 8 months |
| Phenome-wide association studies (PheWAS) in gout | PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute). | 8 months |
| GWAS in CKD | 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). | 8 months |
| PheWAS in CKD | PheWAS will be used to analyze many phenotypes compared to a single genetic variant (or other attribute). | 8 months |
| Measure | Description | Time Frame |
|---|---|---|
| Metabolomic profile in gout | 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. |
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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 :
Patients with CKD
Age: 18 - 70 years old
Patients on dialysis or CKD clinically diagnosed on the basis of:
Controls cohort
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Thomas BARDIN | Hopital Lariboisière | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical Center of Wé (Lifou Island) | Noumea | New Caledonia |
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| ID | Term |
|---|---|
| D006073 | Gout |
| D051436 | Renal Insufficiency, Chronic |
| ID | Term |
|---|---|
| D001168 | Arthritis |
| D007592 | Joint Diseases |
| D009140 | Musculoskeletal Diseases |
| D000070657 | Crystal Arthropathies |
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| ID | Term |
|---|---|
| D016021 | Epidemiologic Studies |
| ID | Term |
|---|---|
| D016020 | Epidemiologic Study Characteristics |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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3 groups of participants :
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|
| 8 months |
| Metabolomic profile in CKD | 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. | 8 months |
| GWAS and severity of CKD according to glomerular filtration rate (GFR) | GWAS will be used to identify genomic variants that are statistically associated with severity. Stage of severity according to GFR (mL/min/1.73m2):
| 8 months |
| GWAS and severity of gout | 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) . | 8 months |
| Relation between CKD and sex | Relation between CKD and sex (Male/ Female) | 8 months |
| Relation between gout and sex | Relation between gout and sex (Male/ Female) | 8 months |
| Relation between CKD and age | Relation between CKD and age | 8 months |
| Relation between gout and age | Relation between gout and age | 8 months |
| Relation between CKD and Body Mass Index (BMI) | Relation between CKD and Body Mass Index (BMI) in kg/m^2 | 8 months |
| Link between gout and Body Mass Index (BMI) | Link between gout and Body Mass Index (BMI) in kg/m^2 | 8 months |
| Relation between CKD and the Body Fat Percentage | Relation between CKD and the Body Fat Percentage in Percentage (%) | 8 months |
| Relation between gout and the Body Fat Percentage | Relation between gout and the Body Fat Percentage in Percentage (%) | 8 months |
| Relation between CKD and Muscle Mass Percentage | Relation between CKD and Muscle Mass Percentage in Percentage (%) | 8 months |
| Relation between gout and Muscle Mass Percentage | Relation between gout and Muscle Mass Percentage in Percentage (%) | 8 months |
| Relation between CKD and Basal Metabolism | Relation between CKD and Basal Metabolism in Joules | 8 months |
| Relation between gout and Basal Metabolism | Relation between gout and Basal Metabolism in Joules | 8 months |
| Relation between CKD and Visceral Fat Percentage | Relation between CKD and Visceral Fat Percentage in Percentage | 8 months |
| Relation between gout and Visceral Fat Percentage | Relation between gout and Visceral Fat Percentage in Percentage | 8 months |
| Relation between CKD and height | Relation between CKD and height in meters | 8 months |
| Relation between gout and height | Relation between gout and height in centimeters | 8 months |
| Relation between CKD and waist size | Relation between CKD and waist size in centimeters | 8 months |
| Relation between gout and waist size | Relationbetween gout and waist size in centimeters | 8 months |
| Relation between CKD and hip circumference | Relation between CKD and hip circumference in centimeters | 8 months |
| Relation between gout and hip circumference | Relation between gout and hip circumference in centimeters | 8 months |
| Relation between CKD and waist/hip ratio | Relation between CKD and waist/hip ratio | 8 months |
| Relation between gout and waist/hip ratio | Relation between gout and waist/hip ratio | 8 months |
| Mendelian randomization | Mendelian randomization uses measured variation in genes to interrogate the causal effect of an exposure on comorbidities development | 8 months |
| D012216 |
| Rheumatic Diseases |
| D011686 | Purine-Pyrimidine Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D051437 | Renal Insufficiency |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |