The Alpha One Foundation was founded in 2001 to raise awareness, increase diagnosis, promote research, and improve the treatment of Alpha-1 Antitrypsin Deficiency (Alpha-1). We are based in the RCSI Education and Research Centre at Beaumont Hospital.
Alpha-1 is a genetic condition that can cause severe lung and liver problems. It is one of the most common inherited conditions in Ireland but unfortunately Alpha-1 is hugely under-diagnosed. For example, the typical person with Alpha-1 sees up to 5 doctors for a period of 7 years before a correct diagnosis is reached. Alpha-1 affects approximately 250,000 people on the island of Ireland, with 3,000 of these having severe deficiency (The Prevalence of Alpha-1 Antitrypsin Deficiency in Ireland, Respiratory Research, 2011 July 13;12:91). Most people with Alpha-1 present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD) but this presentation can occur later in life. A sub-group of people with severe Alpha-1 (those termed ZZ) present with liver disease in the first year of life and in rare cases may require liver transplantation. Early diagnosis is vital to the health and welfare of people with Alpha-1, and this is our main objective.
The Alpha One Foundation works closely with the Irish Donor Network, the Irish Asthma Society, the Medical Research Charities Group, the Irish Platform for Patient Organisations Science and Industry (IPPOSI), the Irish Lung Health Alliance, COPD Support Ireland and several other organisations dedicated to improving lung health. We support our active Alpha-1 patient support group which promotes understanding and awareness of the condition among patients and their families, as well as providing much needed peer-to-peer support for newly-diagnosed Alphas.
Our main aims include:
- Increasing awareness of Alpha-1 Antitrypsin Deficiency (Alpha-1), amongst both the medical profession and the general public.
- Promoting early diagnosis of Alpha-1 individuals.
- Providing comprehensive patient support.
- Access to clinical trials for emerging therapies.
National Alpha-1 Screening Programme:
In 2004 we began a national screening programme funded by the Department of Health and Children to reduce the under diagnosis and misdiagnosis of Alpha-1. This targeted detection programme is the only national screening programme for Alpha-1 in the world. We follow World Health Organisation (WHO), American Thoracic Society (ATS), and European Respiratory Society (ERS) guidelines which together recommend testing of:
- All chronic obstructive pulmonary disease (COPD) patients
- All non-responsive asthmatics
- All cryptogenic liver disease patients
- All first-degree relatives of known Alphas
- Individuals with reduced serum levels of AAT
- Panniculitis patients
There is a dedicated Alpha-1 clinic under the care of Professor McElvaney in Beaumont Hospital every Wednesday afternoon. The staff members of the Alpha One Foundation use the latest diagnostic methods in our screening programme, perform research in the area of Alpha-1, coordinate clinical trials testing new therapies, and strive to increase awareness of the condition throughout Ireland. Staff members liaise with the Alpha-1 clinic team, as well as patients, GPs, hospital laboratory staff, and respiratory and liver specialists throughout Ireland.
As Alpha-1 is a hereditary condition we strongly recommend that first degree family members of people diagnosed with Alpha-1 should be tested, as relatives may also be affected and at risk of lung or liver disease.
Activities of the Alpha One Foundation
We are based in the RCSI Education & Research Centre at Beaumont Hospital in Dublin.
Staff of the Alpha One Foundation:
Kitty O'Connor, CEO
Dr. Tomás Carroll, Chief Scientist
Laura Fee, Clinical Research Associate
Margaret Molloy, Research Nurse and Registry Co-ordinator