Tahiti-families: Polynesian Families of Gout Patients

NCT04900090 | Completed

• 1 other identifier: RC-P00106
• Study Type: interventional
• Target: 33
• Locations: 1 country
• Sites: 1

Brief Summary

Gout is a chronic disease caused by the deposit of monosodium urate (MSU) crystals in body tissues secondary to hyperuricemia. Patients with gout suffer severe attacks of acute joint pain. As the disease progresses, the joint pain becomes chronic and associated with disabling and deformative manifestations called tophus. This disease is strongly associated with several comorbidities such as cardiovascular disease and chronic kidney failure. Gout is a very common disease, which is affecting 0.9% of the adult population in France and nearly 4% of the North-American population. Data from New Zealand show a particularly high prevalence of gout among Polynesians (minority populations in New Zealand and other islands of the South Pacific) that would be explained by genetic susceptibility and frequently interrelated metabolic diseases. Data on the Polynesian population in New Caledonia suggest prevalence figures close to 7% and prevalence in French Polynesia is assumed to be higher. International genomic studies of gout and hyperuricaemia have identified alleles associated with the occurrence of gout. The aim is to focus on families with several gouty members (numerous in French Polynesia, and geographically clustered) in order to enable the study of individuals with monogenic gout or with a low number of variants (= cases) determining in the occurrence of gout, as well as a non-gouty family member (= controls). Dual-energy CT scan (DECT) allows identification and quantification of UMS crystal deposits in the tissue. The volume of crystals correlates not only with the inflammatory activity of the disease but also with the comorbidities that complicate it. Dual-energy scanning has shown the presence of UMS crystals in some hyperuricemic individuals, which could help to identify those individuals most at risk of developing the disease as they already have the stigma of sub-clinical inflammatory activity.

Conditions

Gout

Keywords

Gout; French Polynesia; Epidemiology; Family

Outcome Measures

Primary Outcomes (1)

• Multiple correlation between genetic variants and clinical presentation

  Genome-wide association study (GWAS) aims at identifying genetic variants (genotype) that associated with specific traits (phenotype). The link between the genetic variants and the stage of the disease will be sought using a bivariate analysis: Chi-2 tests or Fisher's exact tests in case of small numbers will be implemented

  4 months

Secondary Outcomes (3)

• Multiple correlation between disease stage, comorbidities, environmental and metabolomics data

  4 months

• Multiple correlation between severity of gout, its impact (pain, disease impact, and quality of life), presence of certain genetic variants, metabolomic changes and comorbidities

  4 months

• Multiple correlation between genetic variants, comorbidities, environmental factors, presence of gout

  4 months

Study Arms (2)

Case group : gout patients

EXPERIMENTAL

Epidemiological study

Other: Epidemiological study

Control group

EXPERIMENTAL

Epidemiological study

Other: Epidemiological study

Interventions

Epidemiological study OTHER

* Clinical phenotypic assessment and neurosensory measures * Biological, genetic and metabolomic evaluation * Questionnaires (quality of life, gout, life habit, comorbidities) * Morphological evaluation by Dual-energy CT scan

Case group : gout patients; Control group

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Case group :
• Gout patients
• Polynesian origin
• Aged 18 to 80 years
• Agreeing to participate in the study
• Having a 1st or 2nd degree relative who is also gouty and a 1st degree relative of the same generation and sex who is not gouty
• Control group :
• Non-gouty individuals who are 1st degree relatives of a gouty patient of the same generation and sex
• Aged 18 to 80 years
• Agreeing to participate in the study

You may not qualify if:

• Pregnant women
• Persons under guardianship, curatorship or other legal incapacity
• Persons with a contraindication to Magnetic resonance imaging (MRI) examination
• For non-gouty controls : current hyperuricemic treatment (Allopurinol, Febuxostat, Probenecid or Benzbromarone)
• For gouty case : not participating in the TOPATA study (NCT04812886)

Sponsors & Collaborators

• University of Birmingham: collaborator
• Ministry of Health, French Polynesia: collaborator
• University of San Diego: collaborator
• Lille Catholic University: lead
• Variant Bio, Inc.: collaborator

Study Sites (1)

Centre Hospitalier de Polynésie Française

Papeete, Ville de Pirae, 98713, French Polynesia

Location

Related Publications (1)

• Pascart T, Wasik KA, Preda C, Chune V, Torterat J, Prud'homme N, Nassih M, Martin A, Le Masson J, Rodiere V, Frogier S, Canova G, Pescheux JP, Shan Sei Fan C, Jauffret C, Claeys P, von Baeyer SL, Castel SE, Emde AK, Yerges-Armstrong L, Fox K, Leask M, Vitagliano JJ, Graf S, Norberciak L, Raynal J, Dalbeth N, Merriman T, Bardin T, Oehler E. The gout epidemic in French Polynesia: a modelling study of data from the Ma'i u'u epidemiological survey. Lancet Glob Health. 2024 Apr;12(4):e685-e696. doi: 10.1016/S2214-109X(24)00012-3.

  PMID: 38485432 RESULT

MeSH Terms

Conditions

Gout

Interventions

Epidemiologic Studies

Condition Hierarchy (Ancestors)

Arthritis; Joint Diseases; Musculoskeletal Diseases; Crystal Arthropathies; Rheumatic Diseases; Purine-Pyrimidine Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Epidemiologic Study Characteristics; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Tristan PASCART, MD PhD

  GHICL - Hôpital Saint Philibert

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 12, 2021
• First Posted: May 25, 2021
• Study Start: May 25, 2021
• Primary Completion: August 31, 2021
• Study Completion: August 31, 2021
• Last Updated: May 1, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)