Actively Recruiting

Age: 18Years +
All Genders
ID07330830

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

Led by Centre Hospitalier Universitaire de la Guadeloupe · Updated on 2026-01-09

600

Participants Needed

3

Research Sites

N/A

Total Duration

On this page

Sponsors

C

Centre Hospitalier Universitaire de la Guadeloupe

Lead Sponsor

C

Centre Hospitalier Universitaire de la Réunion

Collaborating Sponsor

AI-Summary

What this Trial Is About

Metabolic Dysfunction Associated Liver Disease (MASLD) is a common condition linked to metabolic syndrome, with genetic factors like PNPLA3 variants thought to influence liver fat buildup and damage. This research aims to study these genetic variations among MASLD patients in the overseas territories population, primarily of African descent mixed with European and Indian heritage, to better understand their susceptibility to developing the more severe form, Metabolic Dysfunction Associated Steatohepatitis (MASH). The study will analyze genetic samples from adult MASLD patients seen in hospital departments in Guadeloupe, French Guiana, and Réunion Island. Researchers will examine PNPLA3 polymorphisms and assess clinical, imaging, and laboratory markers of MASLD severity at the time of inclusion. This observational study does not involve interventions but focuses on collecting biological samples and health data to explore genetic and clinical profiles. Participants will provide informed consent and undergo assessments including liver imaging and blood tests to evaluate disease stage and fibrosis. Researchers will track allele frequencies of PNPLA3 variants and the distribution of liver disease severity at baseline. The study will also monitor laboratory biomarkers linked to MASLD. The total participation timeline aligns with the inclusion visit, with data collection focused on initial evaluation and genetic analysis.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • 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 defined as evidence of liver fat 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 participant and investigator before any study procedure.
Not Eligible

You will not qualify if you...

  • Patients under 18 years of age.
  • Patients unable to provide informed consent, including vulnerable populations under guardianship or judicial protection.
  • Presence of other chronic liver diseases such as viral hepatitis (B, C, or E), primary biliary cholangitis, primary sclerosing cholangitis, autoimmune hepatitis, Wilson's disease, hemochromatosis, alpha-1 antitrypsin deficiency, or alcoholic liver disease.
  • Daily alcohol consumption >30 g/day for men or >20 g/day for women.
  • Pregnant women.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Baseline visit

Participants undergo assessments to evaluate MASLD clinical stages, liver fibrosis stages by imaging, and MASLD severity based on laboratory biomarkers.

1 visit (in-person)

Long-term Monitoring

Duration - Up to study completion

Participants are observed to study the genetic polymorphisms of PNPLA3 and their association with MASLD in the overseas territories population.

Visits according to routine clinical care

Trial Site Locations

Total: 3 locations

1

Centre Hospitalier Universitaire de la Guyane

Cayenne, French Guiana, 97306

Not Yet Recruiting

2

CHU de la Guadeloupe

Pointe-à-Pitre, Guadeloupe, 97159

Actively Recruiting

3

Centre Hospitalier Universitaire de la Réunion

Saint-Denis, Reunion, 97400

Not Yet Recruiting

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Research Team

M

melanie petapermal

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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