Ignite Creation Date:
2024-07-17 @ 10:43 AM
Last Modification Date:
2024-10-26 @ 3:34 PM
Study NCT ID:
NCT06495333
Status:
RECRUITING
Last Update Posted:
2024-07-10
First Post:
2024-05-31
Brief Title:
Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With MASLD
Sponsor:
Fundacion de Investigacion Science and Education
Organization:
Fundacion de Investigacion Science and Education
Study Overview
Official Title:
Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With Metabolic Dysfunction Associated Steatotic Liver Disease
Status:
RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MPM
Brief Summary:
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None