Genetic Studies of Non-Alcoholic Fatty Liver Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01629095
Recruitment Status : Completed
First Posted : June 27, 2012
Last Update Posted : March 29, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:


- Non-alcoholic fatty liver disease is the most common form of liver disease in the United States. It includes many conditions. Researchers want to study fatty liver disease by looking at people who have liver cirrhosis. They also want to look at people who are or were listed for liver transplants. Genetic studies may provide more information on the causes of these conditions.


- To study possible genetic causes of non-alcoholic fatty liver disease.


- Individuals of any age who have non-alcoholic fatty liver disease and related conditions.


  • Participants will be screened with a physical exam and medical history.
  • Participants will provide a blood sample for genetic testing. Liver tissue from a transplant or biopsy may also be studied.
  • Participants may also be asked to have an imaging study of the liver. This imaging study may be an x-ray or magnetic resonance imaging.
  • No treatment will be provided as part of this research study.

Condition or disease
Fatty Liver Liver Cirrhosis Non-Alcoholic Fatty Liver Disease Liver Transplantation Genetics

Detailed Description:
Non-Alcoholic Fatty Liver Disease (NAFLD) is the most common form of liver disease in the United States. It includes a wide spectrum of conditions from benign hepatic steatosis to cirrhosis and liver failure. Non-Alcoholic Steatohepatitis (NASH) is a term that describes specific histological characteristics of liver inflammation and seems to be a determinant step in the progression of NAFLD to cirrhosis and liver failure. The overall purpose of this study is to increase our understanding of the genetic background and pathophysiology of NAFLD through detailed review of physical, radiologic and pathology characteristics, when available. We will perform genetic analysis of known and candidate genes and will assess inheritance through evaluation of unaffected relatives. Most patients will be seen by hepatologists in transplant centers and hepatology clinics across the country. A subset of patients and their families may be seen at the NIH Clinical Center.

Study Type : Observational
Actual Enrollment : 17 participants
Time Perspective: Retrospective
Official Title: Genetic Studies of Non-Alcoholic Fatty Liver Disease
Study Start Date : June 5, 2012

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

    1. Although a liver biopsy is necessary to make the diagnosis of NASH, patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes have been ruled out are eligible to participate.
    2. Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD or cryptogenic cirrhosis are also eligible to participate.
    3. Depending on their willingness to participate, subjects may enroll in DNA laboratory-only or clinical-only. However, to conserve resources and meet study objectives, subjects with known pathogenic mutations will be given priority in selection for extensive clinical studies.
    4. Direct blood relatives (typically parents and siblings) of affected individuals with NAFLD and associated conditions are also eligible to participate.


  1. Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
  2. Pregnant women. Although fatty liver and cirrhosis are sometimes diagnosed during pregnancy, it is unclear if they were present before and just not diagnosed or if they develop as a complication of pregnancy. Additionally energy metabolism changes during pregnancy and lactation which may confound our analysis. If the condition persists after pregnancy and the diagnosis of NAFLD is

    clearly established, patients can be referred to the study.

  3. We will review a clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not NAFLD or related to our direct research interests (e.g. fatty liver induced by chronic alcohol use, infectious causes, drug-related, or toxin-related). This almost never happens. However, as some of these environmental factors may contribute to a multifactorial etiology of hepatic changes, we may not exclude all such cases.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01629095

United States, California
University of California, San Francisco
San Francisco, California, United States, 94143
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, North Carolina
University of North Carolina
Chapel Hill, North Carolina, United States, 27599-7030
United States, Ohio
Cleveland Clinic Transplantation Clinic
Cleveland, Ohio, United States
United States, Texas
Baylor University Medical Center
Dallas, Texas, United States
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01629095     History of Changes
Other Study ID Numbers: 120147
First Posted: June 27, 2012    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: February 28, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Fatty Liver
Liver Transplant
Non-Alcoholic Steato-Hepatitis
Cryptogenic Cirrhosis
Liver Failure
Non-Alcoholic Fatty Liver Disease

Additional relevant MeSH terms:
Liver Cirrhosis
Liver Diseases
Fatty Liver
Non-alcoholic Fatty Liver Disease
Pathologic Processes
Digestive System Diseases