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

Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population

This will test whether PNPLA3 gene changes help explain who develops more liver fat or liver inflammation among adults with MASLD in Guadeloupe, French Guiana, and Réunion.

Quick facts

• Study type: Observational
• Enrollment: 600 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Centre Hospitalier Universitaire de la Guadeloupe (Academic / other)
• Locations: 3 sites (Cayenne and 2 other locations)
• Trial ID: NCT07330830 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Adults (age ≥18) diagnosed with MASLD who are seen at the participating university hospitals in Guadeloupe, French Guiana, or Réunion and can give informed consent are ideal candidates.

Not a fit: People under 18, those with other causes of chronic liver disease, or those unable to provide informed consent are not eligible and therefore will not benefit from participation, and genetic findings may not change immediate treatment for participants.

Why it matters

Potential benefit: If successful, the results could help identify people at higher genetic risk for severe MASLD/MASH so they can receive closer monitoring and prevention efforts.

How similar studies have performed: Prior studies have repeatedly linked PNPLA3 variants to higher liver fat and worse disease progression, but data specifically from these Overseas Territories populations are limited.

Eligibility criteria

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 this trial is running

Cayenne and 2 other locations

• Centre Hospitalier Universitaire de la Guyane — Cayenne, French Guiana (Not_yet_recruiting)
• CHU de la Guadeloupe — Pointe-à-Pitre, Guadeloupe (Recruiting)
• Centre Hospitalier Universitaire de la Réunion — Saint-Denis, Reunion (Not_yet_recruiting)

Study contacts

• Study coordinator: melanie petapermal

Conditions MASLD/MASH; MASLD; MASH; PNPLA3; genetic polymorphism