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This is a long-term follow-up banking protocol that collects medical information and tissue (blood, liver and lung) samples for future research; use of data and samples for research purposes is overseen by the Tissue Bank Advisory Committee; the purpose of the Bank is to further research on alpha-1 antitrypsin deficiency.
Subject participation includes completion of informed consent, medical questionnaire, and email authorization. Subjects may provide a blood sample for alpha-1 antitrypsin genotype, phenotype and level. Lung and liver tissue may also be provided if available. Subjects may be contacted no more often than annually for updated information.
This project has a certificate of confidentiality from NIH.
Time Perspective: Prospective
Alpha 1 Antitrypsin Deficiency
Active, not recruiting
University of Florida
Published on BioPortfolio: 2014-08-27T03:22:47-0400
The purpose of this randomized, double-blind, placebo-controlled study is to evaluate the short-term safety of inhaled recombinant alpha 1-antitrypsin (rAAT) in subjects with alpha 1-antit...
The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, ...
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing alpha-1 antitrypsin in patients with alpha-1 antitrypsin deficiency. Three groups...
The purpose of this clinical study is to assess the safety and tolerability of Alpha-1 MP in adult Alpha1-antitrypsin deficient patients.
The aim of this study is to describe the natural history of patients with alpha-1 antitrypsin associated emphysema and to figure out associated prognostic factors.
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.
We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous det...
Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected accord...
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...
The deficiency of α-antitrypsin (AAT) is secondary to misfolding and polymerization of the abnormal Z-AAT in liver cells and is associated with lung emphysema. Alveolar macrophages (AM) produce AAT, ...
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.
A transcription factor that regulates the expression of a large set of hepatic proteins including SERUM ALBUMIN; beta-fibrinogen; and ALPHA 1-ANTITRYPSIN. It is composed of hetero- or homo-dimers of HEPATOCYTE NUCLEAR FACTOR 1-ALPHA and HEPATOCYTE NUCLEAR FACTOR 1-BETA.
Hepatology is the study of liver, gallbladder, biliary tree, and pancreas, and diseases associated with them. This includes viral hepatitis, alcohol damage, cirrhosis and cancer. As modern lifestyles change, with alcoholism and cancer becoming more promi...
Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza, Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...