Epidemiology of Gout in French Polynesia (TOPATA)
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|ClinicalTrials.gov Identifier: NCT04812886|
Recruitment Status : Completed
First Posted : March 24, 2021
Last Update Posted : September 30, 2021
|Condition or disease||Intervention/treatment||Phase|
|Gout||Other: Epidemiological study||Not Applicable|
International genomic studies conducted in populations with hyperuricemia and gout have identified a number of associated alleles. The strength of the association between a given allele and gout (or hyperuricemia) provides an indication of the importance of the encoded protein in disease pathogenesis. It was in this way that the development of gout was found to depend on renal urate transporters that were subsequently targeted by new uricosuric therapies.
Overall, the search for gout-associated genes has mostly been done in the general European population and revealed a small number of candidate loci. Most of these only contribute a small amount to the heritability for gout susceptibility, suggesting that additional genes and mechanisms of genetic influence are yet to be discovered. A common feature of Genome-Wide Association studies done so far is that usually large sample sizes are required in order to detect differences in allele frequencies and their contribution to different traits between test groups. The Polynesian population of French Polynesia possesses characteristics that make it particularly attractive to carry out population-based genetic research. Historical records indicate that the Polynesians of Tahiti and surrounding islands originate from a small founder population that has undergone a number of bottlenecks, eventually becoming a genetically homogenous population with a fairly high degree of consanguinity. The combination of a historic founder event, continued isolation and recent expansion are all ideal properties for a Genome Wide Association Study, as they ensure that 1) population stratification will be easy to correct when performing association tests and 2) there are likely high-effect variants that were kept at low frequency in mainland Europe due to negative selection but rose to high frequencies in the Polynesians via the increase in genetic drift or selection through adaptation to a specific environment and diet. Therefore, it is plausible that rare variants with large effect on health-related quantitative traits may be more easily detectable in Polynesians, even with much smaller sample sizes.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||1088 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Gout in French Polynesia: Epidemiology and Comorbidities, Genetic Causes and Prevalence of HLA B58:01|
|Actual Study Start Date :||April 29, 2021|
|Actual Primary Completion Date :||August 16, 2021|
|Actual Study Completion Date :||August 16, 2021|
|Experimental: Epidemiological study||
Other: Epidemiological study
Questionnaires (quality of life, gout, life habit, comorbidities) anthropometrics and health measures DNA analysis RNA analysis Metabolomic analysis
- Gout Prevalence [ Time Frame: 6 months ]Measure of gout prevalence
- Diagnosis of Hyperuricemia [ Time Frame: 6 months ]Diagnosed when uricemia is higher than 360 µmol/l
- Genome wide analysis for identification of genetic variants linked to gout [ Time Frame: 6 months ]Analysis of the genetic determinants of gout and hyperuricemia in French Polynesia via a pan-genomic analysis using complete and then rapid sequencing techniques
- HLA B58:01 allele prevalence [ Time Frame: 6 months ]
- Multiple correlation between renal failure, diabetes, gout and cardiovascular comorbidities [ Time Frame: 6 months ]The association between cardiovascular comorbidities/renal failure/diabetes and gout will be investigated using a multivariate logistic regression model.
- Multiple correlation between renal failure, diabetes, hyperuricemia and cardiovascular comorbidities [ Time Frame: 6 months ]The association between cardiovascular comorbidities/renal failure/diabetes and hyperuricemia will be investigated using a multivariate logistic regression model.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04812886
|Centre Hospitalier de la Polynésie Française|
|Pirae, French Polynesia, 98713|
|Principal Investigator:||Tristan Pascart, MD, PhD||GHICL|