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Alpha-1 Antitrypsin Deficiency Adult Liver Study

2015-04-03 08:38:22 | BioPortfolio

Summary

The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, and undiagnosed. In addition, the investigators believe that the genetic and environmental factors that play an important role in the development of alpha-1 antitrypsin (AAT) liver disease, can be identified by comparing a cohort database of clinical disease information to linked biospecimen and DNA samples.

Description

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder resulting in a low level of a protein called alpha-1 antitrypsin (AAT). This deficiency can cause life-threatening liver disease and/or lung disease at various ages. Some patients experience life-threatening liver disease in childhood or liver cancer as adults. There is no specific treatment for AAT related liver disease. Some patients develop emphysema as young adults, while some patients remain healthy throughout their lives. Differences in the environment or in other genes may explain such inconsistency in the disease.

The primary objective of this multi-center study is to assess the natural history of individuals with Pi-ZZ AAT deficiency, identify biomarkers for the progression of liver disease and construct a database capable of linking cohort data with repository biospecimens. The secondary objective is to analyze components of the demographic, social, and family history associated with more severe liver disease.

At least 100 adults with Pi-ZZ AATD will be enrolled in the study. At the time of enrollment, each participant will be assigned a unique study identification (ID) number. All participant information recorded and samples collected for the study will be saved by this unique number. All blood, tissue and genetic samples collected will be sent to a secured repository for future retrieval and study. The process of coding data and samples lessens the chances of a breach in confidentiality.

The study will examine the natural history of liver disease by recording each participant's family history, medical history, current health, physical exam, laboratory test results, and medical treatment(s). Participants will complete several brief research questionnaires about their physical and mental health, diet, alcohol intake, smoking and secondhand smoke, environmental and occupational (work) exposures. Procedures performed for the research include liver biopsy, FibroScan testing, and the collection of serum, plasma and blood for routine laboratory and genetic testing (Induced Pluripotent Stem Cells (iPS cells), microRNA and DNA).

Participation in this study will last for 5 years and includes an enrollment visit and four annual follow-up visits. A liver biopsy is performed at enrollment and again in Year 5, to help the researchers learn what causes liver disease in some patients and how the liver disease progresses. Participants will be given copies of their routine laboratory test results and liver biopsy pathology reports to share with their primary care physician.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Alpha-1 Antitrypsin Deficiency

Intervention

Liver Biopsy

Location

University of California
San Diego
California
United States
92103

Status

Recruiting

Source

St. Louis University

Results (where available)

View Results

Links

Published on BioPortfolio: 2015-04-03T08:38:22-0400

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PubMed Articles [8504 Associated PubMed Articles listed on BioPortfolio]

Clinical and Histologic Features of Adults with Alpha-1 Antitrypsin Deficiency in a Non-Cirrhotic Cohort.

Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults. Descriptions of the natural history of liver disease are limited to case series and patient reported...

Longterm Homecare Augmentation Program in Alpha-1-Antitrypsin Deficient Patients.

Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD.

Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis.

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Medical and Biotech [MESH] Definitions

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)

A trypsin-like enzyme of spermatozoa which is not inhibited by alpha 1 antitrypsin.

Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.

Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

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