How PNPLA3 gene variants relate to fatty liver disease in the French Overseas Territories

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study will enroll adults with MASLD seen at university hospitals in Guadeloupe, French Guiana, and Réunion and collect clinical, metabolic, imaging/biopsy data alongside blood samples for PNPLA3 genotyping. Investigators will compare PNPLA3 variant frequencies with measures of liver fat and inflammation, adjusting for age, BMI, diabetes, and other risk factors. The aim is to describe genetic susceptibility patterns in an ethnically mixed overseas territories population where current data are scarce. No experimental treatments are given and participation requires informed written consent; people with other chronic liver diseases are excluded.

Why it matters

Who can join: the full rules

IInclusion Criteria

-Adult patients (≥18 years old) seen in consultation or hospitalized in the Hepato-Gastroenterology Departments of the University Hospitals of Guadeloupe, French Guiana, and Réunion Island, with a diagnosis of MASLD.

MASLD is defined as evidence of hepatic steatosis associated with overweight/obesity, type 2 diabetes, or metabolic syndrome according to ATP III (2005) criteria.

* Patients affiliated with, or beneficiaries of, a social security scheme.
* Free, informed, and written consent obtained from the participant and signed by both the participant and the investigator (no later than the day of inclusion and prior to any procedure required by the study).

Exclusion Criteria:

* Patients under 18 years of age.
* Patients unable to provide informed consent; so-called vulnerable populations (individuals under guardianship, judicial protection, etc.).
* Presence of another cause of chronic liver disease, including:

Viral hepatitis (B, C, or E)

Primary biliary cholangitis or primary sclerosing cholangitis

Autoimmune hepatitis

Wilson's disease

Hemochromatosis

Alpha-1 antitrypsin deficiency

Alcoholic liver disease, or daily alcohol consumption \>30 g/day for men or \>20 g/day for women

-Pregnant women.

Where it's running

• CHU de la Guadeloupe
  Pointe-à-Pitre, Guadeloupe Recruiting
• Centre Hospitalier Universitaire de la Guyane
  Cayenne, French Guiana Not yet recruiting
• Centre Hospitalier Universitaire de la Réunion
  Saint-Denis, Reunion Not yet recruiting

Study contacts

• Study coordinator: melanie petapermal
• Email: melanie.petapermal@chu-guadeloupe.fr
• Phone: +590590934667

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.