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Alpha-1 Suite, RCSI Building, Beaumont Hospital, Dublin 9, Ireland
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Alpha-1 Patient & Family Conference 2025
The 2025 Alpha-1 Patient & Family Conference took place on Saturday 18th October in the Marino Institute of Education in Glasnevin in Dublin. A large crowd gathered in the morning with tea and scones on arrival and a hearty lunch was organized for later in the day.
Anne Marie O’Dowd, CEO of Alpha-1 Foundation Ireland welcomed the families and speakers before Alpha-1 Board Member Michelle Hughes introduced the first speaker, Prof Gerry McElvaney.
Update on New and Emerging Therapies Â
Prof Gerry McElvaney, Professor of Medicine RCSI and Consultant Respiratory Physician Beaumont Hospital
Professor McElvaney began his talk with some context noting that firstly, a diagnosis is essential. He briefly discussed the targeted detection programme and the cohorts of patients that are targeted for testing. He highlighted the importance of smoking cessation, vaccination, pulmonary rehabilitation, standard COPD medications, monitoring of liver disease and then any specific treatments. If Alpha-1 was added to the newborn screening programme, this would provide crucial information to parents which could lead to lifestyle modification and disease prevention. Liver disease in Alpha-1 is variable and studies highlight the importance of monitoring liver function.
In terms of treatment, augmentation therapy from donated plasma, is the only current licensed treatment. It is given weekly, usually in the patients home and studies have shown that this treatment can slow the progression of emphysema and increase life expectancy. Irish Alphas have been involved in some of the important studies showing that this treatment is effective. Sadly, it is not yet available for patients in Ireland but Alpha-1 Foundation Ireland continues to advocate and campaign for access for patients. Thankfully, there are even better treatments being developed and it is hoped that Irish people with ZZ type Alpha-1 will be able to take part in some of the clinical trials that will test these. The new treatment include gene therapy and RNA editing that seek to correct the single abnormal letter in the gene that causes Alpha-1.
The ZZ Family Study
Dr Emma Farrell, Clinical Lecturer and AATD Researcher
Emma was the winner of the 2024 Alpha-1 Prize for Best Communication of Research to a Lay Audience and therefore had a speaking slot at the 2025 conference.
Starting her presentation by describing how Alpha-1 is inherited, Emma noted that there are over 500 people diagnosed in Ireland with the severe form of Alpha-1 (ZZ) and over 6,000 with the moderate form (MZ). It is estimated, however, that there are over 2,300 people with the ZZ gene (3,000+ if northern Ireland is included). Therefore, there is considerable underdiagnosis. Emma’s study aims to learn how much more likely a person is to develop lung or liver disease with Alpha-1; what risk does smoking pose; does smoking cessation slow the decline of lung function. Previous studies were challenged by low numbers participating and were biased as the focus was on the sickest patients. Emma’s cohort are people within families diagnosed with Alpha-1 and those without the condition who act as a control. The study aims to recruit 100 patients who present with lung symptoms and 400 siblings, either with or without Alpha-1.
3-Minute Lighting Presentations
Introduced by Dr Mark Murphy, Senior Research Fellow
This is the annual competition for early-stage Alpha-1 researchers for Best Communication of Research to a Lay Audience.
Dr David Quigley, a respiratory doctor working on Alpha-1, presented ‘Understanding inflammation in ZZ Alpha-1 bronchiectasis’. The goal of the study is to translate laboratory studies on samples from the lungs of patients into improvements in breathing, well-being and quality of life.
Lucy Kirwan, a first-year PhD student, presented ‘Cutting-edge techniques to explore the immune system in Alpha-1′. The research is looking at cellular senescence – a kind of ‘cell aging’ – and if this plays a role in Alpha-1. This may lead to new ways to treat or even prevent some complications of Alpha-1.
Dr Kate Breathnach, a medical doctor who graduated from University of Limerick in 2015 and is training as a Respiratory Specialist, presented ‘Defining the risk of lung disease associated with MZ Alpha-1′. The research is exploring how lung health changes over time in the MZ population and how smoking, social and environmental factors can influence disease risk and progression.
Dr Suzanne Roche, a Respiratory Clinician currently undertaking a Clinical Research Fellowship in Alpha-1 and is in her 3rd year of a PhD in the area, presented ‘Genetic discrimination – an emerging issue in Alpha-1′.
Dr Tomás McHugh, a Respiratory Medicine trainee and Lecturer in RCSI, presented ‘Clarifying the risk of lung and liver disease in people with Alpha-1 caused by the SZ genotype’.
And the winner was Dr Suzanne Roche who was voted best presentation by the audience – presented here with her prize by Dr. Mark Murphy. Â
Update on the National Targeted Detection Programme and National Alpha-1 Registry
Dr Tomás Carroll, Chief Scientist Alpha-1 Foundation Ireland & RCSI
Tomás gave a background on the Targeted Detection Programme (TDP) and the Alpha-1 Registry. He highlighted that in the 21 years of the detection programme 510 ZZs, 6023 MZs and 629 SZs have been diagnosed. A total of 25,500 people have been tested for Alpha-1 since 2004.
Tomás described the pathway to care in the National Centre of Expertise in Beaumont Hospital and what a patient can expect when attending the clinic. At this clinic, patients may also be invited to participate in the National Alpha-1 Registry. The Registry in a confidential database which records medical information. It is used to improve care and quickly identify potential eligible patients for clinical trials. It is also used for Alpha-1 research. Tomás concluded by highlighting the support provided by Alpha-1 Foundation Ireland, a registered charity, which supports Alpha-1 patients and promotes patient care and research.
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Rosie’s Role – Supporting people with Alpha-1 as a Specialist Respiratory Nurse
Rosie Carroll, Clinical Nurse Specialist
Rosie Carroll gave a presentation about her role as the specialist nurse in the Alpha-1 Clinic. Putting the person with Alpha-1 at the centre, the role involves co-ordinating care, education, addressing physical and psychological need, supporting the wider family and advocating. The clinic takes place on Wednesdays with a new Friday clinic. The clinic is led by respiratory consultants and a team of clinical researchers also attend and engage with patients for various studies. A range of tests can take place – pulmonary function tests to test breathing, fibroscan and ultrasound to look at the liver, oscillometry which measures air flow in the lungs, CT scans of the lung, 6-minute walk tests and blood tests.
Rosie talked about staying well with Alpha-1 to include exercise and if specifically indicated, referral to pulmonary rehabilitation. Pulmonary rehab takes place in specialised hubs in the community with dedicated nurses and physio. She also highlighted the benefits of healthy eating, preventive supports such as vaccination and avoiding airborne toxins, recognising symptoms and acting upon them and also looking after your mental health. Rosie noted that Alpha-1 Foundation was developing a leaflet in relation to mental health which would provide signposting to resources.
How I live well with Alpha-1Â
Orla Keane, a person living with Alpha-1
Orla gave a powerful talk about her journey with Alpha-1 over the past 35 years. She described being initially diagnosed and the shock she experienced, and her journey since then which has included advocacy, fundraising, multiple Alpha-1 awareness events, presentations at scientific conferences, and participation in an important international clinical trial.
Orla is an extraordinary advocate for people with Alpha-1. She has been a great supporter of Alpha-1 Foundation Ireland since her diagnosis – and is always willing to help others affected by Alpha-1. Her uplifting talk received a standing ovation.
The Living Well and Building Better Caregivers Programme
Dr Jennifer Wilson O’Raghallaigh, Clinical Psychologist HSE & Carol Conway, Co-Facilitator
Jennifer and Carol described this HSE programme which aims to provide classes for adults with chronic illnesses to live well and self manage their condition. There are also programmes for care givers. This evidence-based programme involves a free 6-week programme, once per week. Sessions take place in-person or online. Trained leaders facilitate with one of the leaders living with a long-term health condition. People participating may or may not have similar conditions. Each person receives a book about self-management at the end. www.hse.ie/livingwell
We are very grateful to everyone for attending and for their feedback which helps us plan and improve future conferences.
A final thank you to A.Menarini and AIRNA who provided unrestricted educational grants to help us host this important annual national Alpha-1 conference.
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