Tahiti-families: Polynesian Families of Gout Patients

NCT ID: NCT04900090

Last Updated: 2024-03-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 33 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-05-25
• Study Completion Date: 2021-08-31

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

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Case group : gout patients

Epidemiological study

Group Type: EXPERIMENTAL

Epidemiological study

Intervention Type: 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

Control group

Epidemiological study

Group Type: EXPERIMENTAL

Epidemiological study

Intervention Type: 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

Interventions

Epidemiological study

• 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

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• 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)

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Variant Bio, Inc.

UNKNOWN

Sponsor Role: collaborator

University of Birmingham

OTHER

Sponsor Role: collaborator

University of San Diego

OTHER

Sponsor Role: collaborator

Ministry of Health, French Polynesia

UNKNOWN

Sponsor Role: collaborator

Lille Catholic University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Tristan PASCART, MD PhD

Role: PRINCIPAL_INVESTIGATOR

GHICL - Hôpital Saint Philibert

Locations

Centre Hospitalier de Polynésie Française

Papeete, Ville de Pirae, French Polynesia

Countries

French Polynesia

Other Identifiers

RC-P00106

Identifier Type: -

Identifier Source: org_study_id