MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis)AdipoDROMExpoNCT07330830
Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population (AdipoDROMExpo)
An observational study of MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis), run by Centre Hospitalier Universitaire de la Guadeloupe at 3 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis)
- How many people
- 600 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 26 Nov 2025to 28 Nov 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Prospective longitudinal multicentric study
Who may be able to join
None listed.
Who cannot join
- 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
Show all 11Show fewer
- 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.
Trial locations and contacts
3 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 3 countries
French Guiana1 site, 1 recruiting
- Not yet recruiting
Centre Hospitalier Universitaire de la Guyane
Cayenne, 97306
Alolia ABOIKONI, MMD, +594594395356, alolia.aboikoni@ch-cayenne.fr
Guadeloupe1 site, 1 recruiting
- Recruiting
CHU de la Guadeloupe
Pointe-à-Pitre, 97159
Moana Gelu-Simeon, MD PhD, +590590891445, moana.gelu@chu-guadeloupe.fr
Reunion1 site, 1 recruiting
- Not yet recruiting
Centre Hospitalier Universitaire de la Réunion
Saint-Denis, 97400
Sandy Kwiatek, MD, +262262 90 50 50, sandy.kwiatek@chu-reunion.fr
About this study
Official title: Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population
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).
Read the detailed description
Metabolic dysfunction associated liver disease (MASLD) is a significant public health concern worldwide with a complex etiology attributed to behavioural, environmental, and genetic causes. The worldwide prevalence of MASLD is estimated to be 32.4% and constantly rising.
Several studies suggest differences in the prevalence and severity of MASLD by race or ethnicity, which may be linked to differences in lifestyle, diet, metabolic comorbidity profile, and genetic background, among others.
Race/ethnicity research is essential as it can provide valuable information regarding biological and genetic differences among people with similar cultural, dietary, and geographical backgrounds.
There is ample epidemiological evidence on the role of genetic susceptibility in MASLD, mainly from studies showing the clustering of MASLD cases among families and observing differences in the prevalence and severity of MASLD among ethnicities.
The Overseas territories population is predominantly of African descent due to slave trade of population from sub-Saharan Africa between the seventeenth and nineteenth centuries. They have also been a mixture from Europeans and Indians. Indian are descents from Latin America, initially present on the territories, and from Asia, after the abolition of slavery. Data about MASLD in Overseas territories are scarce. To our knowledge, one study reported the prevalence of MASLD in Caribbean and Hispanic populations resident in the United States compared with Hispanic residents in Latin America (Kallwitz 2015). In the later study, rates of MASLD were significantly lower in persons with Caribbean origin than those of Latin America heritage.
Genetic susceptibility variations may partially explain the heterogeneity observed in the MASLD prevalence/incidence estimates from different geographical regions and the variability in disease severity among individuals. Genetic factors have been suggested as one of the underlying causes of racial/ethnic differences in susceptibility to MASLD.
Among the building blocks of metabolic syndrome, type 2 diabetes and obesity have been significantly associated with an increased risk of MASH with more severe progression to cirrhosis or liver cancer.
However, in overseas, the prevalence of type 2 diabetes (10%), high blood pressure (28%), or obesity (30%) are among the highest in France.
PNPLA3 expression is implicated in intrahepatic lipid accumulation and is associated with lipotoxicity and the more severe phenotypes, including fibrosis and carcinogenesis. Therefore, in this study, PNPLA3 polymorphisms will be analysed to evaluate the profile of MASLD patients in overseas territories. A biological sample will be taken to analyse PNPLA3 polymorphisms in DROMSteatExpo study.
- Keywords
- MASLD, MASH, PNPLA3, genetic polymorphism
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline (inclusion visit).
Secondary outcomes (3)
Distribution of MASLD Clinical Stages at Baseline
The distribution of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) clinical stages at baseline will be assessed by physician clinical evaluation. Participants will be classified into clinical categories including simple steatosis and non-alcoholic steatohepatitis (NASH). The outcome will be reported as the number and percentage of participants in each clinical stage.
Measured: Baseline (inclusion visit).
Distribution of Liver Fibrosis Stages Assessed by Imaging at Baseline
Liver fibrosis stage will be assessed at baseline using imaging-based liver stiffness measurements (e.g., transient elastography, magnetic resonance elastography, or MRI-based techniques, as available at participating centers). Fibrosis stages will be categorized according to standard fibrosis stages (F0-F4). The outcome will be reported as the number and percentage of participants in each fibrosis stage.
Measured: Baseline (inclusion visit).
Distribution of MASLD Severity Based on Laboratory Biomarkers at Baseline
MASLD severity will be assessed at baseline using laboratory biomarkers, including liver enzymes (e.g., ALT, AST) and metabolic parameters. Results will be categorized according to predefined clinical thresholds. The outcome will be reported as the number and percentage of participants within each severity category.
Measured: Baseline (inclusion visit).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2026
- Study start26 Nov 2025
- Primary completion26 Nov 2027 (estimated)
- Study completion28 Nov 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
- Sponsor type
- University, hospital or other
- Collaborators
- Centre Hospitalier Universitaire de la Réunion
- Responsible party
- Sponsor
- Investigators
- Moana Gelu-Simeon, MD PhD, Study chair, CHU de la Guadeloupe
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07330830
- Sponsor's protocol ID
- PAP_RIPH2_2025/04
- Acronym
- AdipoDROMExpo
- Status last verified
- Jan 2026
- First submitted
- 14 Nov 2025
- Last updated
- 9 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population
- ClinicalTrials.gov ID
- NCT07330830
- Acronym / sponsor ID
- AdipoDROMExpo / PAP_RIPH2_2025/04
- Keywords
- MASLD, MASH, PNPLA3, genetic polymorphism
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de la GuadeloupeUniversity, hospital or other
- Collaborators
- Centre Hospitalier Universitaire de la Réunion
- Study start
- 26 Nov 2025 (actual)
- Primary completion
- 26 Nov 2027 (estimated)
- Study completion
- 28 Nov 2027 (estimated)
- First posted
- 9 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
Metabolic dysfunction associated liver disease (MASLD) is a significant public health concern worldwide with a complex etiology attributed to behavioural, environmental, and genetic causes. The worldwide prevalence of MASLD is estimated to be 32.4% and constantly rising.
Several studies suggest differences in the prevalence and severity of MASLD by race or ethnicity, which may be linked to differences in lifestyle, diet, metabolic comorbidity profile, and genetic background, among others.
Race/ethnicity research is essential as it can provide valuable information regarding biological and genetic differences among people with similar cultural, dietary, and geographical backgrounds.
There is ample epidemiological evidence on the role of genetic susceptibility in MASLD, mainly from studies showing the clustering of MASLD cases among families and observing differences in the prevalence and severity of MASLD among ethnicities.
The Overseas territories population is predominantly of African descent due to slave trade of population from sub-Saharan Africa between the seventeenth and nineteenth centuries. They have also been a mixture from Europeans and Indians. Indian are descents from Latin America, initially present on the territories, and from Asia, after the abolition of slavery. Data about MASLD in Overseas territories are scarce. To our knowledge, one study reported the prevalence of MASLD in Caribbean and Hispanic populations resident in the United States compared with Hispanic residents in Latin America (Kallwitz 2015). In the later study, rates of MASLD were significantly lower in persons with Caribbean origin than those of Latin America heritage.
Genetic susceptibility variations may partially explain the heterogeneity observed in the MASLD prevalence/incidence estimates from different geographical regions and the variability in disease severity among individuals. Genetic factors have been suggested as one of the underlying causes of racial/ethnic differences in susceptibility to MASLD.
Among the building blocks of metabolic syndrome, type 2 diabetes and obesity have been significantly associated with an increased risk of MASH with more severe progression to cirrhosis or liver cancer.
However, in overseas, the prevalence of type 2 diabetes (10%), high blood pressure (28%), or obesity (30%) are among the highest in France.
PNPLA3 expression is implicated in intrahepatic lipid accumulation and is associated with lipotoxicity and the more severe phenotypes, including fibrosis and carcinogenesis. Therefore, in this study, PNPLA3 polymorphisms will be analysed to evaluate the profile of MASLD patients in overseas territories. A biological sample will be taken to analyse PNPLA3 polymorphisms in DROMSteatExpo study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Prospective longitudinal multicentric study
Key inclusion criteria (0 listed)
Key exclusion criteria (11 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Allele frequencies of PNPLA3 variants
Time frame: Baseline (inclusion visit).
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.
3 secondary outcomes
Distribution of MASLD Clinical Stages at Baseline
Time frame: Baseline (inclusion visit).
Distribution of Liver Fibrosis Stages Assessed by Imaging at Baseline
Time frame: Baseline (inclusion visit).
Distribution of MASLD Severity Based on Laboratory Biomarkers at Baseline
Time frame: Baseline (inclusion visit).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Moana Gelu-Simeon, MD PhD study chair
CHU de la Guadeloupe
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis), run by Centre Hospitalier Universitaire de la Guadeloupe at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in French Guiana, Guadeloupe, Reunion. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact melanie petapermal (+590590934667, melanie.petapermal@chu-guadeloupe.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Allele frequencies of PNPLA3 variants (time frame: Baseline (inclusion visit).). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2026.