Genetic Studies of Non-Alcoholic Fatty Liver Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01629095
First received: June 22, 2012
Last updated: March 14, 2014
Last verified: February 2014
  Purpose

Background:

- 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.

Objectives:

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

Eligibility:

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

Design:

  • 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
Fatty Liver
Liver Cirrhosis
Non-Alcoholic Fatty Liver Disease
Liver Transplantation
Genetics

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Genetic Studies of Non-Alcoholic Fatty Liver Disease

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 1000
Study Start Date: June 2012
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

    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.

EXCLUSION CRITERIA:

  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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01629095

Contacts
Contact: Maria J Guillen Sacoto, M.D. (301) 451-7417 guillensacotomj@mail.nih.gov
Contact: Maximilian Muenke, M.D. (301) 402-8167 mamuenke@mail.nih.gov

Locations
United States, California
University of California, San Francisco Recruiting
San Francisco, California, United States, 94143
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27599-7030
United States, Ohio
Cleveland Clinic Transplantation Clinic Recruiting
Cleveland, Ohio, United States
United States, Texas
Baylor University Medical Center Recruiting
Dallas, Texas, United States
Sponsors and Collaborators
Investigators
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
No publications provided

ClinicalTrials.gov Identifier: NCT01629095     History of Changes
Other Study ID Numbers: 120147, 12-HG-0147
Study First Received: June 22, 2012
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

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

Additional relevant MeSH terms:
Liver Cirrhosis
Liver Diseases
Fatty Liver
Digestive System Diseases

ClinicalTrials.gov processed this record on October 01, 2014