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Recently, I had the pleasure of watching video presentations from the latest Alpha-1 National Conference in Dallas, Texas, which took place in June. The Alpha-1 Foundation and other organizations are making headway with a lot of interesting studies, and I found one in particular very exciting. The foundation and its partners are going to learn a lot about biomarkers in predicting lung disease in patients with alpha-1 antitrypsin deficiency (AATD).

This is extremely encouraging because as a person living with AATD, I need all the information I can get. The study, known as the Biomarker Consortium, will study hundreds of patients with AATD who have the PiZZ genotype over a period of 3 years. They will only study patients who are in the Alpha-1 Foundation Research Registry.

The researchers will be looking at extremely accurate computed tomography (CT) scans, blood samples, questionnaires, pulmonary function tests, and perhaps even more involved things such as sputum tests. The study will be extensive and will follow the same patients, whether they are on augmentation therapy or not. The study centers (9 in total) are all over the United States, and a validation trial is going to be started in Ireland.

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One of the panelists in the presentation I watched was a doctor who pointed out that the researchers have a goal that the “placebo group” will consist of those who were not on augmentation therapy begin with and would not receive it throughout. The goal is to be aware of the effects of zero augmentation on the patients with regard to their lung and liver health.

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The study recruited only patients with the PiZZ genotype because they tend to have more severe outcomes than people with other genotypes, especially when it comes to liver health. This will allow them to more clearly identify biomarkers in these patients. However, they did recruit a small amount of patients with the PiMZ genotype as well.

I think there is more to why one person is lung affected and one person is not, even though they have the same genotype. So, this study is a giant step forward in my mind. And it seems that this consortium had that in mind when these people came together.

I just think about all the grief I could have spared myself when, after all this time, I found out I had emphysema at age 34, even though I never smoked and I was a PiSZ. I could have been more proactive, planned my life better, and found a job I could do and love a lot sooner.

I do want to thank this group of physicians and researchers, as well as all the schools of study involved in this. AATD is an intimidating condition, for both doctors and for patients. There are so many unknowns; it takes a lot of confidence and hard work to even try to tackle something as difficult as finding biomarkers for a rather newly discovered lung disorder.

All 4 panelists who introduced the consortium seemed like very careful and caring individuals. They were Jeanine D’Armiento, Monica Goldklang, Charlie Strange, and Mike Wells, all doctors. They also seemed very knowledgeable. I am encouraged that the consortium has such professionals working for it and motivated to find more answers to the questions posed by AATD.