In the first family study which started in 2007, researchers tried to measure the risk of lung disease in people with the common MZ type Alpha-1. At the time, it was not known if people with MZ type Alpha-1 were more likely to develop lung problems. The project was started by Dr. Valerie Morris and things developed further when Dr. Kevin Molloy took over as project lead.

In the study, large numbers of brothers and sisters from the same families took part. In fact, over 240 siblings from 51 families helped to show that if people with MZ type Alpha-1 smoke cigarettes, their risk of lung disease is greater than people who do not have any type of Alpha-1. However, if people with MZ do not smoke, their risk of lung disease is no different to the average person. 

So lifestyle choices play a huge role and people with MZ Alpha-1 have the power to greatly reduce the risk of lung disease. This is a valuable and positive health message for the 250,000 people on the island of Ireland affected by MZ type Alpha-1.

In the second study which started in 2016, the goal was to measure the risk of lung disease in people with the less common SZ type. At the time, it was not known if people with SZ type Alpha-1 should be considered at high risk of lung disease. The project lead was Dr. Alex Franciosi. 

For this study, over 160 brothers and sisters from 44 families took part. They helped to show that SZ type Alpha-1 should not be considered a severe form of the condition. Researchers found that people with SZ type Alpha-1 who never smoked (and were not exposed to dusts, fumes, or gases for long periods in the workplace) did not have lung disease. However, if people with SZ type Alpha-1 smoked, they were at greater risk of lung disease compared to the average person that is unaffected by Alpha-1. 

Again, this was another study with a positive and valuable health message. If you are SZ you can greatly reduce the risk of lung disease by lifestyle decisions such as avoiding smoking or vaping, and by paying attention to workplace dusts, fumes, or gases. For an easy to read summary of the SZ research visit https://www.alpha1.ie/new-irish-alpha-1-research-in-2020/. 

Both family studies were funded by the US Alpha-1 Foundation who provided financial support. Most importantly, the two studies could not have happened without the more than 400 people who took part. 

Many miles were travelled by the researchers in both studies with almost every county in Ireland represented. Thanks to all of the participants we now have a better idea of the risk of lung disease in people who are MZ and SZ type Alpha-1. This information is being used by the global Alpha-1 community to better educate people about their diagnosis, and to better educate healthcare providers.

If you would like to read more about the National Irish Alpha-1 Registry, important for the success of many research studies, including the family studies, visit https://www.alpha1.ie/irish-alpha-1-registry/. 

If you took part in either the MZ or the SZ family study, and would like to read the research findings published in the AJRCCM journal, please email alpha1@rcsi.ie and we would be delighted to share a copy of the research that you helped to make a success.

A third Irish family study began in 2023. This time researchers will explore and precisely measure the risk of lung disease in people with ZZ type Alpha-1, the most severe form. Once again, this project is a Dublin-Boston collaboration, has important funding from the US Alpha-1 Foundation and will rely on the generosity and goodwill of the Irish Alpha-1 community. 

If you or someone you know is affected by ZZ type Alpha-1, and you would like to learn more about this new family study, email farrellemma@rcsi.com or call 01-8093871.