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. 

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This clinical trial is being conducted in Beaumont Hospital by Professor McElvaney and his team. This is a placebo-controlled, double-blinded, multicentre phase III / IV study to compare the efficacy and safety of the drug Zemaira ® in patients with emphysema due to alpha-1 antitrypsin deficiency. The duration for each patient is 2 years.

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We recently undertook a research project to identify the incidence of AATD in a representative sample of the general population of Ireland. This involved screening 1000 anonymised DNA samples for the presence of the S and Z mutations and was undertaken in collaboration with Dr. Joe McPartlin of the Trinity College Biobank. The gene frequencies revealed for both the S and Z mutation were higher than anticipated based on studies in other European populations.

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Alpha-1 antitrypsin (AAT) is an antiprotease produced chiefly by the liver. Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterised by low serum levels of AAT and is associated with lung and liver disease.
In May 2004 a national targeted detection programme for alpha-1 antitrypsin deficiency was established in Beaumont Hospital. Funded directly by the Irish Government's Department of Health, the screening programme provides free testing to patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and to relatives of AATD patients.

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