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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Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

Last Updated: 29 Apr 2014

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General Support Organizations

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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

View Details
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

View Details
Logo
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

View Details
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

View Details
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

View Details
Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

http://www.caringvoice.org

Last Updated: 29 Apr 2014

View Details

 

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 227 free, full-text research articles on human participants. First 3 results:

Free light chains: potential biomarker and predictor of mortality in alpha-1-antitrypsin deficiency and usual COPD.
 

Author(s): Judith A Hampson, Robert A Stockley, Alice M Turner

Journal:

 

Circulating free light chains (FLCs) can alter neutrophil migration, apoptosis and activation and may be a biomarker of autoimmune disease and adaptive immune system activation. These pathogenic roles could be relevant to lung disease in alpha 1 antitrypsin deficiency (A1ATD) and ...

Last Updated: 2 Apr 2016

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Philanthropy and Advocacy-Led Development of Gene Therapies and Drugs for Alpha-1 Antitrypsin Deficiency.
 

Author(s): Jean-Marc Quach, Robert Campbell, John Walsh

Journal: Hum. Gene Ther.. 2015 Dec;26(12):783-5.

 

Last Updated: 22 Dec 2015

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Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
 

Author(s): Benedikt Schaefer, David Haschka, Armin Finkenstedt, Britt-Sabina Petersen, Igor Theurl, Benjamin Henninger, Andreas R Janecke, Chia-Yu Wang, Herbert Y Lin, Lothar Veits, Wolfgang Vogel, Günter Weiss, Andre Franke, Heinz Zoller

Journal: Hum. Mol. Genet.. 2015 Nov;24(21):6254-63.

 

Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated with hepatic iron overload in a subgroup of patients. The underlying cause for this association is unknown. The aim of the present study was to define the genetics of this correlation and the effect of alpha-1-antitrypsin ...

Last Updated: 10 Oct 2015

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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 36 free, full-text review articles on human participants. First 3 results:

Challenges and Prospects for Alpha-1 Antitrypsin Deficiency Gene Therapy.
 

Author(s): Joanna Wozniak, Tomasz Wandtke, Piotr Kopinski, Joanna Chorostowska-Wynimko

Journal: Hum. Gene Ther.. 2015 Nov;26(11):709-18.

 

Alpha-1 antitrypsin (AAT) is a protease inhibitor belonging to the serpin family. A number of identified mutations in the SERPINA1 gene encoding this protein result in alpha-1 antitrypsin deficiency (AATD). A decrease in AAT serum concentration or reduced biological activity causes ...

Last Updated: 11 Nov 2015

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Progress with Recombinant Adeno-Associated Virus Vectors for Gene Therapy of Alpha-1 Antitrypsin Deficiency.
 

Author(s): Alisha M Gruntman, Terence R Flotte

Journal: Hum Gene Ther Methods. 2015 Jun;26(3):77-81.

 

The pathway to a clinical gene therapy product often involves many changes of course and strategy before obtaining successful results. Here we outline the methodologies, both clinical and preclinical, that went into developing a gene therapy approach to the treatment of alpha-1 antitrypsin ...

Last Updated: 23 Jun 2015

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Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.
 

Author(s): Timothy J Craig

Journal: J Allergy Clin Immunol Pract. ;3(4):506-11.

 

Alpha-1 antitrypsin deficiency (AATD) is a hereditary, monogenic disorder with no unique clinical features. AATD can be difficult to diagnose as patients commonly present with respiratory symptoms often mistaken for other respiratory syndromes such as asthma or smoking-related chronic ...

Last Updated: 13 Jul 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 19 Apr 2016

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Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 9 Sep 2015

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A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD)
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 28 Sep 2016

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