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

NCT07330830 | Recruiting

• 1 other identifier: PAP_RIPH2_2025/04
• Study Type: observational
• Target: 600
• Locations: 3 countries
• Sites: 3

Brief Summary

Metabolic Dysfunction Associated Liver Disease (MASLD) is associated with metabolic syndrome, and PNPLA3 variants are known to be implicated in intrahepatic lipid accumulation and linked to lipotoxicity. Analysis of PNPLA3 polymorphisms in an overseas territories population of MASLD would be interesting to describe their profile susceptibility to develop Metabolic dysfunction associated steatohepatitis (MASH).

Conditions

MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis)

Keywords

MASLD; MASH; PNPLA3; genetic polymorphism

Outcome Measures

Primary Outcomes (1)

• Allele frequencies of PNPLA3 variants

  The primary outcome is the allele frequencies of PNPLA3 gene variants in patients with Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from the overseas population. Genotyping will be performed on DNA extracted from patient blood samples, and the frequency of each allele will be reported as the proportion of participants carrying the variant.

  Baseline (inclusion visit).

Secondary Outcomes (3)

• Distribution of MASLD Clinical Stages at Baseline

  Baseline (inclusion visit).

• Distribution of Liver Fibrosis Stages Assessed by Imaging at Baseline

  Baseline (inclusion visit).

• Distribution of MASLD Severity Based on Laboratory Biomarkers at Baseline

  Baseline (inclusion visit).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Prospective longitudinal multicentric study

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de la Guadeloupe: lead
• Centre Hospitalier Universitaire de la Réunion: collaborator

Study Sites (3)

Centre Hospitalier Universitaire de la Guyane

Cayenne, 97306, French Guiana

NOT YET RECRUITING

CHU de la Guadeloupe

Pointe-à-Pitre, 97159, Guadeloupe

RECRUITING

Centre Hospitalier Universitaire de la Réunion

Saint-Denis, 97400, Reunion

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA library for search of genetic polymorphism collected in 2 EDTA tubes of 8 mL.

Study Officials

• Moana Gelu-Simeon, MD PhD

  CHU de la Guadeloupe

  STUDY CHAIR

Central Study Contacts

melanie petapermal

CONTACT

+590590934667; melanie.petapermal@chu-guadeloupe.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2025
• First Posted: January 9, 2026
• Study Start: November 26, 2025
• Primary Completion (Estimated): November 26, 2027
• Study Completion (Estimated): November 28, 2027
• Last Updated: January 9, 2026

Record last verified: 2026-01

Locations

RE (1); GU (1); FR (1)