Genetic Studies of Non-Alcoholic Fatty Liver Disease
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 17
- 试验地点
- 5
- 主要终点
- To better understand the underlying mechanisms of liver regeneration and the development of NASH.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 1 Month 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
To better understand the underlying mechanisms of liver regeneration and the development of NASH.
时间窗: One point in time
(a) To determine the role of the Sonic Hedgehog signaling pathway and related genes in the predisposition to liver injury and NASH.(b) To compare gene variants (with known or suspected abnormal functional effects) with the phenotypes observed in patients (i.e. genotype- phenotype correlations) as documented in the study.(c) To verify recurrence risks /inheritance patterns for each of the candidate genes.
次要结局
未报告次要终点