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Alpha-1 Foundation DNA and Tissue Bank

2014-08-27 03:22:47 | BioPortfolio

Summary

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.

Description

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.

Study Design

Time Perspective: Prospective

Conditions

Alpha 1 Antitrypsin Deficiency

Status

Active, not recruiting

Source

University of Florida

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:22:47-0400

Clinical Trials [823 Associated Clinical Trials listed on BioPortfolio]

Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin Deficiency

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...

Alpha-1 Antitrypsin Deficiency Adult Liver Study

The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, ...

Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency

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 Safety and Tolerability of Alpha-1 MP In Subjects With Alpha-1-Antitrypsin (AAT) Deficiency

The purpose of this clinical study is to assess the safety and tolerability of Alpha-1 MP in adult Alpha1-antitrypsin deficient patients.

Management of Patients With Alpha-1 Antitrypsin Deficiency Associated Emphysema

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.

PubMed Articles [3439 Associated PubMed Articles listed on BioPortfolio]

Comparison of exercise training responses in COPD patients with and without Alpha-1 antitrypsin deficiency.

The benefits of pulmonary rehabilitation (PR) on fatigue-resistant skeletal muscle fibre type I have been found to be smaller in COPD patients with alpha-1 antitrypsin deficiency (AATD) than in those ...

Intensive smoking diminishes the differences in quality of life and exacerbation frequency between the alpha-1-antitrypsin deficiency genotypes PiZZ and PiSZ.

Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder that is associated with low levels of circulating alpha-1-antitrypsin in serum. In comparison to the genotype PiZZ, PiSZ usually leads ...

Retrospective analysis of children with α-1 antitrypsin deficiency.

α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical α-1 antitrypsin deficiency (AATD), chronic liver disease, and cirrhosis is c...

Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study.

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...

α-antitrypsin polymerizes in alveolar macrophages of smokers with and without α-antitrypsin deficiency.

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, ...

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.

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.

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

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.

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