Alpha-1-Antitrypsin Deficiency

Common Name(s)

Alpha-1-Antitrypsin Deficiency, Familial emphysema

Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.  Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha-1-Antitrypsin Deficiency" for support, advocacy or research.

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Alpha-1 Antitrypsin Deficiency Canada Inc.

Alpha-1 Canada’s mission is to provide information, education and support to Canadians affected by alpha-1 antitrypsin deficiency; inform and educate the medical community about alpha-1 antitrypsin deficiency; and generate broad awareness about this genetic liver, lung and skin disease.

Last Updated: 11 Mar 2013

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Alpha-1 Association

The Alpha-1 Association is dedicated to identifying individuals affected by Alpha-1 and improving the quality of their lives through support, education, advocacy and to encourage participation in research.

Last Updated: 27 Dec 2012

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Alpha-1 Awareness UK

Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians. Our primary objective is to improve the understanding of A1AT in both patients and medical professionals, as well as to provide support for Alphas and their carers.

Last Updated: 29 Mar 2013

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Alpha-1 Foundation

The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency.

Last Updated: 26 Aug 2015

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Alpha-1 UK Support Group

To provide support and education for patients, families, carers and friends who are affected directly or indirectly by Alpha-1 Antitrypsin Deficiency. To grow a social network for patients, by providing discussion groups focusing on how better to cope with their condition, aiming towards improving quality of life. To advance education and understanding of the condition, in particular among medical professionals, including information relating to genetic implications, treatment, and lifestyle choices. To campaign for better access to treatment for Alpha-1 patients.

Last Updated: 29 Apr 2014

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AlphaNet, Inc.

AlphaNet has a mission. The heart of this mission is simple — to improve the lives of individuals affected by Alpha-1 Antitrypsin Deficiency. As a not-for-profit organization that is governed by, employs and serves Alphas, AlphaNet is uniquely able to develop and offer programs and services based on a very personal understanding of how Alpha-1 affects the lives of Alphas. In keeping with this mission, AlphaNet provides a wide range of specialized programs and services designed to meet the specific needs of the Alphas it serves.

Last Updated: 8 Jan 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha-1-Antitrypsin Deficiency" for support, advocacy or research.

Logo
Alpha-1 Antitrypsin Deficiency Canada Inc.

Alpha-1 Canada’s mission is to provide information, education and support to Canadians affected by alpha-1 antitrypsin deficiency; inform and educate the medical community about alpha-1 antitrypsin deficiency; and generate broad awareness about this genetic liver, lung and skin disease.

http://www.alpha1canada.ca

Last Updated: 11 Mar 2013

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Alpha-1 Association

The Alpha-1 Association is dedicated to identifying individuals affected by Alpha-1 and improving the quality of their lives through support, education, advocacy and to encourage participation in research.

http://www.alpha1.org

Last Updated: 27 Dec 2012

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Alpha-1 Awareness UK

Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians. Our primary objective is to improve the understanding of A1AT in both patients and medical professionals, as well as to provide support for Alphas and their carers.

http://www.alpha1awareness.org.uk

Last Updated: 29 Mar 2013

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Alpha-1 Foundation

The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency.

http://alpha1.org/

Last Updated: 26 Aug 2015

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Alpha-1 UK Support Group

To provide support and education for patients, families, carers and friends who are affected directly or indirectly by Alpha-1 Antitrypsin Deficiency. To grow a social network for patients, by providing discussion groups focusing on how better to cope with their condition, aiming towards improving quality of life. To advance education and understanding of the condition, in particular among medical professionals, including information relating to genetic implications, treatment, and lifestyle choices. To campaign for better access to treatment for Alpha-1 patients.

http://www.alpha1.org.uk

Last Updated: 29 Apr 2014

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AlphaNet, Inc.

AlphaNet has a mission. The heart of this mission is simple — to improve the lives of individuals affected by Alpha-1 Antitrypsin Deficiency. As a not-for-profit organization that is governed by, employs and serves Alphas, AlphaNet is uniquely able to develop and offer programs and services based on a very personal understanding of how Alpha-1 affects the lives of Alphas. In keeping with this mission, AlphaNet provides a wide range of specialized programs and services designed to meet the specific needs of the Alphas it serves.

Last Updated: 8 Jan 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alpha-1-Antitrypsin Deficiency" returned 265 free, full-text research articles on human participants. First 3 results:

Survival Advantage of Both Human Hepatocyte Xenografts and Genome-Edited Hepatocytes for Treatment of α-1 Antitrypsin Deficiency.
 

Author(s): Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A Kay, Leonard D Shultz, Dale L Greiner, Terence R Flotte, Michael A Brehm, Christian Mueller

Journal: Mol. Ther.. 2017 Nov;25(11):2477-2489.

 

Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In α-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients, lung damage occurs due to a lack of AAT-mediated protection of lung ...

Last Updated: 31 Dec 1969

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Cardiovascular risk in patients with alpha-1-antitrypsin deficiency.
 

Author(s): Sebastian Fähndrich, Frank Biertz, Annika Karch, Björn Kleibrink, Armin Koch, Helmut Teschler, Tobias Welte, Hans-Ulrich Kauczor, Sabina Janciauskiene, Rudolf A Jörres, Timm Greulich, Claus F Vogelmeier, Robert Bals,

Journal:

 

Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined. The aim of this study ...

Last Updated: 31 Dec 1969

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Improving adherence to alpha-1 antitrypsin deficiency screening guidelines using the pulmonary function laboratory.
 

Author(s): Landy V Luna Diaz, Isabella Iupe, Bruno Zavala, Kira C Balestrini, Andrea Guerrero, Gregory Holt, Rafael Calderon-Candelario, Mehdi Mirsaeidi, Michael Campos

Journal:

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alpha-1-Antitrypsin Deficiency" returned 43 free, full-text review articles on human participants. First 3 results:

Clinical utility of alpha-1 proteinase inhibitor in the management of adult patients with severe alpha-1 antitrypsin deficiency: a review of the current literature.
 

Author(s): David G Parr, Beatriz Lara

Journal:

 

Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). The putative protective serum concentration is generally considered to be above a threshold ...

Last Updated: 31 Dec 1969

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Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
 

Author(s): Franck F Rahaghi, Marc Miravitlles

Journal:

 

Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A-PI). An important function of A-PI in the lung is to inhibit neutrophil elastase, one ...

Last Updated: 31 Dec 1969

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Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.
 

Author(s): Ross G Edgar, Mitesh Patel, Susan Bayliss, Diana Crossley, Elizabeth Sapey, Alice M Turner

Journal:

 

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition predisposing individuals to chronic obstructive pulmonary disease (COPD). The treatment is generally extrapolated from COPD unrelated to AATD; however, most COPD trials exclude AATD patients; thus, this study sought ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 16 Jan 2018

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Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 3 Apr 2018

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Liver Disease in Patients With alpha1-antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: alpha1-antitrypsin Deficiency

 

Last Updated: 29 May 2017

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