Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
Trial record 1 of 90 for:    fatty liver | Open Studies | United States
Previous Study | Return to List | Next Study

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 (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT01629095
First received: June 22, 2012
Last updated: November 11, 2014
Last verified: February 2014

June 22, 2012
November 11, 2014
June 2012
Not Provided
Not Provided
Not Provided
Complete list of historical versions of study NCT01629095 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Genetic Studies of Non-Alcoholic Fatty Liver Disease
Genetic Studies of Non-Alcoholic Fatty Liver Disease

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.

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.

Observational
Time Perspective: Retrospective
Not Provided
Not Provided
Not Provided
Not Provided
  • Fatty Liver
  • Liver Cirrhosis
  • Non-Alcoholic Fatty Liver Disease
  • Liver Transplantation
  • Genetics
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1000
Not Provided
Not Provided
  • 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.
Both
Not Provided
No
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
United States
 
NCT01629095
120147, 12-HG-0147
Not Provided
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
National Human Genome Research Institute (NHGRI)
Not Provided
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
National Institutes of Health Clinical Center (CC)
February 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP