Clinical trial NCT04900090: Tahiti-families: Polynesian Families of Gout Patients
Official title: Tahiti-families: From Genetic to Phenotype Study of Polynesian Families of Gout Patients
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Gout
Keywords: Gout
French Polynesia
Epidemiology
Family
Lead sponsor: Lille Catholic University
Sponsor class: OTHER
Collaborators: name: Variant Bio, Inc.
name: University of Birmingham
name: University of San Diego
name: Ministry of Health, French Polynesia
First posted: 2021-05-25
Enrollment: 33
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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.


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)

Primary outcomes:
measure: Multiple correlation between genetic variants and clinical presentation
timeFrame: 4 months
Secondary outcomes:
measure: Multiple correlation between disease stage, comorbidities, environmental and metabolomics data
timeFrame: 4 months
measure: Multiple correlation between severity of gout, its impact (pain, disease impact, and quality of life), presence of certain genetic variants, metabolomic changes and comorbidities
timeFrame: 4 months
measure: Multiple correlation between genetic variants, comorbidities, environmental factors, presence of gout
timeFrame: 4 months
Other outcomes:
Locations:
city: Papeete
country: French Polynesia
facility: Centre Hospitalier de Polynésie Française
state: Ville De Pirae
Study officials:
affiliation: GHICL - Hôpital Saint Philibert
name: Tristan PASCART, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: