Skip to main content
OpenTrials
Completed

NCT Number: NCT01966627

Genetics of Fatty Liver Disease in Children

This is a study to investigate genetic predisposition to hepatic steatosis and the expression of gluconeogenic and lipogenic genes in livers of obese children and adolescents.

Hypothesis 1: Common variants recently associated with variation in plasma TG levels identified in Genome Wide Association Studies (GWAS) (such as GCKR, PNPLA3) can affect accumulation of fat and subsequent development of Non Alcoholic Fatty Liver Disease (NAFLD). Gene variants act in additive or synergistic manner with progressive liver fat accumulation per additional risk allele.

Hypothesis 2: With increase in hepatic fat content NASH and fibrosis will increase. Furthermore, expression of lipogenic markers (SREBP1c) will increase.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Non Alcoholic Fatty Liver Disease Body Weight Digestive System Diseases Fatty Liver Liver Diseases Non-alcoholic Fatty Liver Disease Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Pathological Conditions, Signs and Symptoms Pediatric Obesity Signs and Symptoms

Age range

7 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Yale University

New Haven, Connecticut, 06510, United States

About this study

To establish a cohort of obese youths to prospectively analyze potential factors (genetic and nutritional factors) that might affect the expression and progression of NAFLD. This study will determine genetic markers and their ability to convey susceptibility to NAFLD in obese children and adolescents. Furthermore, potential mechanisms that might contribute to the accumulation of hepatic Triglyceride (TG) accumulation will be, for the first time, assessed by genotyping. Additionally, we will examine the presence of intestinal microbiome in the development of fatty liver through stool collection.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • between 7 and 18 years of age,
  • overweight or obese with a BMI greater than the 85th percentile for age and gender, and
  • be otherwise healthy.

Exclusion criteria

  • the use of any medication that alters liver function, blood pressure, glucose or lipid metabolism and
  • no use of any antipsychotic medication
  • Youth on chronic anti-inflammatory medications or who consume alcohol are also excluded.

Treatment and study plan

OGTT

Other

oral glucose tolerance test

genotyping

Other

genotyping to look for risk alleles

abdominal and liver magnetic resonance imaging

Other

magnetic resonance imaging scan of abdomen and liver - abdominal and liver mri

Stool sample

Other

stool sample taken to investigate metabolites

liver biopsy

Other

liver biopsy to examine for cellular change and steatosis

Primary outcomes

  1. gene expression

    Time frame: Baseline

    gene mutation allele variation identification measure via gene extraction

Secondary outcomes

  1. hepatic fat content

    Time frame: 2 years

    Abdominal MRI to measure liver fat and subcutaneous and visceral fat ratio done at baseline and 2 year follow up

  2. glucose tolerance

    Time frame: 2 years

    glucose tolerance status measured by 3 hour oral glucose tolerance test done at baseline and 2 year follow up

Other outcomes

  1. DNA gene sequencing of intestinal bacteria's

    Time frame: 2 years

    Measure microbiota diversity via stool samples to understand variance of triglycerides accumulation in liver

  2. Use liver biopsy specimen to assess differences in gene expression, as well as inflammation.

    Time frame: As indicated by Pediatric Hepatolgist

    liver biopsy tissue obtained when subject is scheduled for pre-ordered biopsy by hepatologist

Sponsors and collaborators

Lead sponsor

Yale University

Other

Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Registry information

Official study title

Genetics of Fatty Liver Disease in Childhood Obesity.

Important dates

Study start
2011
Primary completion
2017
Study completion
2017
First posted
Oct 21, 2013
Registry last updated
Dec 8, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.