Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Sponsor

UNC Nutrition Research Institute (Other)

Overall Status

Completed

CT.gov ID

NCT02267148

Collaborator

(none)

Enrollment

Location

Duration (Months)

26.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer.

The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.

Condition or Disease	Intervention/Treatment	Phase
Non-alcoholic Fatty Liver Disease

Detailed Description

Purpose: ABCB4 is a gene that intersects choline and bile metabolism, two processes that are highly relevant for liver disease. The investigators have identified a pattern of genetic variation that is associated with fatty liver burden and potentially, risk for liver disease. One of the most prominent genes in this pattern is ABCB4. This data needs to be replicated in the general population. This study will test the hypothesis that aberrant function of ABCB4 due to genetic variations will increase the risk of fatty liver progression to fibrosis. It will also implement innovative, non-invasive technology to measure liver fat and fibrosis utilizing the FibroScan® instrument. As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135. Finally, the investigators will calculate a NAFLD-Fibrosis score as an additional correlate to liver disease status.

Participants: To test this hypothesis, 50 ethnically diverse, overweight or obese male and female adults will be recruited from the general population.

Procedures: Genotyping to correlate variation in the ABCB4 and PNPLA3 genes with level of fatty liver and progression to fibrosis with the FibroScan®. Calculation of NAFLD-Fibrosis score.

Study Design

Study Type:

Observational

Actual Enrollment :

53 participants

Observational Model:

Case-Control

Time Perspective:

Cross-Sectional

Official Title:

Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Study Start Date :

Oct 1, 2014

Actual Primary Completion Date :

Dec 1, 2014

Actual Study Completion Date :

Dec 1, 2014

Outcome Measures

Primary Outcome Measures

Liver stiffness measurement via transient elastography [Study Day 1]
Measured by FibroScan® instrument
Liver fat measurement via Controlled Attenuation Parameter [Study Day 1]
Measured using FibroScan® instrument

Secondary Outcome Measures

NAFLD-Fibrosis score [Study Day 1]
This is a calculated score which is a good predictor of liver disease

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 70 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

Males and females
Ages 18-70 years
Body mass index 25-45

Exclusion Criteria:

Alcohol consumption > 20 grams/day
Liver disease from a cause other than NAFLD (such as hepatitis B/C, alcoholic liver disease, or autoimmune hepatitis)
Pharmacological therapy for liver disease
History of liver transplant
Presence of implantable medical devices
Ascites
Pregnancy
Smoking or use of recreational drugs