Project Description: This clinical research study, to clarify the risk of COPD in MZ individuals, commenced in July 2007 and is supervised by Professor Gerry McElvaney, Department of Medicine RCSI, Smurfit Building, Beaumont Hospital, Dublin 9, Ireland.
The purpose of this study is to obtain information about individuals (and their family members) that are carriers of alpha-1 antitrypsin (AAT) deficiency. Acquisition of an abnormal alpha-1 gene from each parent leads to severe deficiency in alpha-1 protein levels which may result in serious lung disease in adults and/or liver disease in infants, children and adults. If an individual inherits an abnormal alpha-1 gene from only one parent, they are a carrier and may be predisposed to developing lung disease. The main objective of this study is to determine whether carriers of alpha-1 antitrypsin deficiency are at an increased risk of developing lung disease. We aim to identify subtle changes in lung function especially in close family members that may allow earlier intervention and treatment. We also aim to investigate whether there are any environmental factors that interact with the abnormal alpha-1 gene that predisposes some but not others to serious lung disease. If identified correctly, such environmental factors may then be avoided thus preventing the development of serious lung disease in carriers of alpha-1 antitrypsin deficiency. Our aim is to enroll 400 parents and siblings of 100 alpha-1 antitrypsin carriers (PiMZ) with diagnosed GOLD Stage 3 or 4 COPD into this study. The inclusion criteria for PiMZ carriers are as follows:
Age >30
GOLD Stage 3 or 4 COPD (post-bronchodilator FEV1 <50% predicted; FEV1/FVC ratio 0.7)
Confirmed PiMZ genotype
No other lung diseases that would affect pulmonary function testing (PFT)
The exclusion criteria for relatives of the above PiMZ carriers are as follows:
Any interstitial lung diseases
Genotypes other than PiMM or PiMZ
Non-biological siblings of the PiMZ COPD proband
Each individual will perform a lung function test (using a portable spirometer), complete a detailed questionnaire (respiratory and liver questions, family history, smoking history etc) and provide blood samples to confirm their carrier status and allow DNA extraction. In the last year, we have recruited 125 individuals into the study from 25 families. Our preliminary results have shown approximately equal numbers of MZ carriers and MM individuals within each family. Our goal is to include as many siblings and parents from each family as possible to participate in this ground-breaking clinical research study. We will determine whether the PiMZ carrier status is associated with an increased risk of COPD and whether cigarette smoking confers an increased risk of COPD in carriers of alpha-1 antitrypsin deficiency.
If you are an MZ carrier, fulfill the above criteria and are interested in partaking in this clinical research study, please contact:
Dr. Valerie Morris Respiratory Research Laboratory, Smurfit Building, Beaumont Hospital, Dublin 9. Tel: +353-1-8093861 or 085-7255506
Alpha-1 antitrypsin is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke. It can be easily measured by a simple blood test.
WhatisAlpha-1AntitrypsinDeficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, after cystic fibrosis, is the commonest genetic disorder in Ireland. It severely affects more than 15,000 people, with another 250,000 carriers also at risk of lung and liver disease on the island of Ireland. It is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD).
HowDoIGetTested?
The Alpha-1 Foundation Ireland provides free testing for Alpha-1 as part of a national screening programme which is funded by the HSE. It is a simple blood test. For more details ring 01-8093871 or email alpha1@rcsi.ie
Clarification of the Risk of COPD in Alpha-1 antitrypsin (MZ) Individuals
Monday, 24 November 2008 12:20
Funding Body: Alpha-1 Foundation (USA)
Project Description: This clinical research study, to clarify the risk of COPD in MZ individuals, commenced in July 2007 and is supervised by Professor Gerry McElvaney, Department of Medicine RCSI, Smurfit Building, Beaumont Hospital, Dublin 9, Ireland.
The purpose of this study is to obtain information about individuals (and their family members) that are carriers of alpha-1 antitrypsin (AAT) deficiency. Acquisition of an abnormal alpha-1 gene from each parent leads to severe deficiency in alpha-1 protein levels which may result in serious lung disease in adults and/or liver disease in infants, children and adults. If an individual inherits an abnormal alpha-1 gene from only one parent, they are a carrier and may be predisposed to developing lung disease. The main objective of this study is to determine whether carriers of alpha-1 antitrypsin deficiency are at an increased risk of developing lung disease. We aim to identify subtle changes in lung function especially in close family members that may allow earlier intervention and treatment. We also aim to investigate whether there are any environmental factors that interact with the abnormal alpha-1 gene that predisposes some but not others to serious lung disease. If identified correctly, such environmental factors may then be avoided thus preventing the development of serious lung disease in carriers of alpha-1 antitrypsin deficiency. Our aim is to enroll 400 parents and siblings of 100 alpha-1 antitrypsin carriers (PiMZ) with diagnosed GOLD Stage 3 or 4 COPD into this study. The inclusion criteria for PiMZ carriers are as follows:
The exclusion criteria for relatives of the above PiMZ carriers are as follows:
Each individual will perform a lung function test (using a portable spirometer), complete a detailed questionnaire (respiratory and liver questions, family history, smoking history etc) and provide blood samples to confirm their carrier status and allow DNA extraction. In the last year, we have recruited 125 individuals into the study from 25 families. Our preliminary results have shown approximately equal numbers of MZ carriers and MM individuals within each family. Our goal is to include as many siblings and parents from each family as possible to participate in this ground-breaking clinical research study. We will determine whether the PiMZ carrier status is associated with an increased risk of COPD and whether cigarette smoking confers an increased risk of COPD in carriers of alpha-1 antitrypsin deficiency.
If you are an MZ carrier, fulfill the above criteria and are interested in partaking in this clinical research study, please contact:
Dr. Valerie Morris
Respiratory Research Laboratory, Smurfit Building, Beaumont Hospital, Dublin 9.
Tel: +353-1-8093861 or 085-7255506
vbmorris@hotmail.com
Info Centre
What is Alpha-1 Antitrypsin?
Alpha-1 antitrypsin is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke. It can be easily measured by a simple blood test.
What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which, after cystic fibrosis, is the commonest genetic disorder in Ireland. It severely affects more than 15,000 people, with another 250,000 carriers also at risk of lung and liver disease on the island of Ireland. It is a proven genetic risk factor for chronic obstructive pulmonary disease (COPD).
How Do I Get Tested?
The Alpha-1 Foundation Ireland provides free testing for Alpha-1 as part of a national screening programme which is funded by the HSE. It is a simple blood test. For more details ring 01-8093871 or email alpha1@rcsi.ie