Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With MASLD (MPM)

July 9, 2024 updated by: Fundacion de Investigacion Science and Education

Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With Metabolic Dysfunction Associated Steatotic Liver Disease

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is the most common cause of liver disease worldwide. The condition is defined by fat accumulation exceeding 5% of liver weight not explained by at-risk alcohol intake. Risk factors include obesity, diabetes, genetic variants, dietary factors, and gut microbiota alterations. However, the interdependence of these factors and their individual impact on disease severity remain unclear. The investigators aim to investigate the changes in the gut microbiome of Hispanics living in Puerto Rico with MASLD associated with wild-type and mutated genotype status of PNPLA3 rs738409, a strong genetic contributor to MASLD. In this cross-sectional study, blood and fecal samples will be collected from participants who have completed a non-invasive transient elastography test (FibroScan) to measure the extent of hepatic steatosis (fat in the liver). Genotyping for the PNPLA3 rs738409 variant will be conducted. Fecal samples will be collected to analyze the V4 region of the 16S rRNA gene for intestinal microbiota characterization. Alpha and beta diversity analysis will be measured by MASLD status and PNPLA3 genotype to evaluate biodiversity within and between samples.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

The liver is the powerhouse of the body, overseeing many functions such as the production of clotting factors, sugars, fats, and the metabolism of drugs. MASLD is the most common chronic liver disease worldwide, affecting one in three adults and one in ten children. MASLD, more commonly referred to as "fatty liver," can lead to fat accumulation in liver cells or steatosis and is strongly associated with obesity and diabetes. The disease is usually considered a silent condition with few symptoms until advanced liver disease or cirrhosis develops. Fortunately, fatty liver may be reversed by adopting a healthy lifestyle, including weight loss and exercise. However, the pathogenesis of MASLD remains incompletely understood, and the Hispanic subpopulation is affected the most.

A multi-hit model has been proposed that most accurately describes both the development of simple steatosis and its transition from simple steatosis to progressive stages of the disease. In this model, a close interaction between dietary, environmental, and genetic factors with insulin resistance, lipotoxicity, and fat metabolism comprises multiple insults acting together on predisposed subjects to induce MASLD. This model has led to the understanding that the interplay between diet, genetics, and gut microbiota is of utmost importance in the development and progression of the condition. As a multi-factorial disease, assigning specific disease pathways to the overall phenotype has been challenging. Still, it is important to investigate associations between its risk factors to direct therapeutic interventions to the most relevant pathways.

Looking at two of the most relevant risk factors, this study aims to investigate whether there are any differences in the taxonomic composition of the gut microbiota between Hispanic patients with MASLD with different PNPLA3 genotypes. The PNPLA3 (patatin-like phospholipase domain-containing protein 3) polymorphism has been implicated in the pathogenesis and progression of the condition. However, the role of PNPLA3 polymorphism in shaping the fecal microbiota composition in Hispanic patients with MASLD remains unclear. Once fecal and blood samples are collected from a cohort of Hispanic individuals with MASLD, fecal microbiota sequencing and PNPLA3 genotyping will be done. Findings will reveal whether there are significant alterations in the fecal microbiota composition in relation to PNPLA3 polymorphism in Hispanic patients with MASLD. Results could provide evidence for a potential link between PNPLA3 polymorphism and fecal microbiota composition in Hispanic individuals with MASLD.

Study Type

Study Type

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Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Contacts and Locations

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Study Contact

Study Contact

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Study Contact Backup

  • Name: Grisell Ortiz-Lasanta, MD
  • Phone Number: 276 7877221248
  • Email: gortiz@fdipr.com

Study Locations

  • Puerto Rico
      • San Juan, Puerto Rico, 00927
        • Recruiting
        • FDI Clinical Research
        • Contact:
        • Contact:
        • Principal Investigator:
          • Vivian Tamayo, MD
        • Sub-Investigator:
          • José G Rodriguez, MD
        • Sub-Investigator:
          • Caroline Nazario, MD
        • Sub-Investigator:
          • Grisell Ortiz, MD

Participation Criteria

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Eligibility Criteria

Eligibility Criteria

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Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

The aim of this study is to determine the changes in the gut microbiome in Hispanics living in Puerto Rico with MASLD associated to wild-type and mutated PNPLA3 genotype status will also be assessed in this study population. To maintain homogeneity of the study population and to achieve the study objectives, the study will only be including individuals who self-identify as Hispanic and currently reside in Puerto Rico. Exclusion of non-Hispanic individuals is necessary to ensure that obtained results are representative of the Hispanic population in Puerto Rico and can be generalized to this population.

Description

Inclusion Criteria:

A subject must meet the following criteria to be eligible for inclusion in the study:

Patient must be of Hispanic ethnicity residing in Puerto Rico. Age 21 to 75 years old at time of informed consent. Evidence of MASLD by vibration-controlled transient elastography (FibroScan) controlled attenuation parameter (CAP) (value must be greater than or equal to 248 dB/m).

Willing and able to provide informed consent signed by study subject. Willing and able to understand and complete study-related procedures.

Exclusion Criteria:

A subject who meets any of the following criteria will be excluded from the study:

Excessive alcohol intake for ≥3 months during past year prior to screening (>3 units/day for males and >2 units/day for female is generally considered excessive).

History of liver transplant, or current placement on a liver transplant list. History of viral and resolved hepatitis (Hepatitis B or C) or human immunodeficiency virus (HIV).

Use of antibiotics within 14 days of screening.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Microbiota characterization
Time Frame: 1 year
To determine the changes in the gut microbiome of Hispanics living in Puerto Rico with MASLD associated to wild-type and mutated genotype status of PNPLA3 rs738409, a strong genetic contributor to MASLD.
1 year
Microbiota diversity based on eating patterns
Time Frame: 1 year
To determine microbiome diversity in Hispanics with different eating patterns.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Fundacion de Investigacion Science and Education

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Chair: Andrea Pi, BS, FDI Clinical Research

Publications and helpful links

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General Publications

Helpful Links

Study record dates

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Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
July 5, 2024

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 28, 2024

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
August 20, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 31, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 9, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 10, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 10, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 9, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • FDI-2024-001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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