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Alpha-1 Foundation Research Registry

2014-07-23 21:28:50 | BioPortfolio

Summary

The Alpha-1 Foundation Research Registry is a confidential database made up of individuals diagnosed with severe alpha-1 antitrypsin deficiency (Alpha-1) or the carrier state.

Description

The Registry was established in 1997 by the Alpha-1 Foundation to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1. Located at the Medical University of South Carolina (MUSC) in Charleston, the Registry employs procedures that ensure the most stringent confidentiality of participants. The Registry operates under the direction of the Alpha-1 Foundation Board of Directors and is guided by an Advisory Committee comprised of leaders in the medical, ethical, scientific and Alpha communities. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches in addition to other research opportunities.

Study Design

N/A

Conditions

Alpha 1-Antitrypsin Deficiency

Location

Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine
Charleston
South Carolina
United States
29425

Status

Recruiting

Source

Medical University of South Carolina

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:28:50-0400

Clinical Trials [713 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 [3170 Associated PubMed Articles listed on BioPortfolio]

The Allergist's Role in Detection of Severe Alpha-1 Antitrypsin Deficiency.

Alpha-1 antitrypsin deficiency (AATD) frequently presents as difficult to manage asthma or asthma with fixed obstruction and is well documented as being underdiagnosed in the population.

Alpha-1 Antitrypsin PI MZ Genotype Is Associated with COPD in Two Racial Groups.

Alpha-1 antitrypsin deficiency, primarily caused by homozygosity for the Z allele of the SERPINA1 gene, is a well-established genetic cause of chronic obstructive pulmonary disease (COPD). Whether the...

A Rare Cause of a Spontaneous Pneumothorax.

A young patient presented himself to the emergency department with sudden-onset, breathing-dependent right-sided thoracic pain. The auscultation revealed diminished breath sounds on the right. The rad...

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in c...

Alpha-1-Antitrypsin Deficiency: Disease Management and Learning from Studies.

Alpha-1-antitrypsin deficiency (AATD) is one of the most frequent genetic causes of liver and lung diseases. Despite its known association with chronic obstructive pulmonary disease (COPD), AATD is la...

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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