Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (Liver AATD)

Liver Fibrosis Clinical Trial

Official title: Clinical Predictors and Epigenetic Markers for Liver Fibrosis in Alpha-1 Antitrypsin Deficiency

Status Completed

Clinical Trial Summary

We hypothesize that individuals with Alpha-1 Antitrypsin (AAT) deficiency have ongoing liver injury which is not detected by the usual blood tests used to look at liver function. This ongoing liver injury leads to cirrhosis in a significant number of adults with AAT deficiency.

Clinical Trial Description

Our overarching hypothesis is that liver disease in adults with AAT deficiency is the result of the accumulation of the abnormally folded protein within the endoplasmic reticulum of the hepatocyte. In some individuals, the intrinsic cellular mechanisms of the hepatocyte are sufficient to clear adequate amounts of the abnormally folded protein such that liver disease does not occur. In AAT deficient individuals who develop liver disease, environmental and other genetic factors stress the hepatocyte, and the normal cellular mechanisms that maintain homeostasis are disrupted, leading to liver disease.

For this proposal, our hypothesis is that the prevalence of liver disease in adults with AAT is higher than previously reported because liver injury and fibrosis is not accurately detected by available routine liver testing. Testing this hypothesis will require an initial evaluation for liver disease with liver function testing and imaging, and then histologic confirmation by liver biopsy. ;

Related Conditions & MeSH terms

• AAT Deficiency
• AATD
• Alpha 1-Antitrypsin Deficiency
• Alpha-1 Antitrypsin Deficiency
• Fibrosis
• Liver Cirrhosis
• Liver Fibrosis

• NCT number: NCT01810458
• Study type: Observational
• Source: University of Florida
• Status: Completed
• Start date: October 2013
• Completion date: September 2019