Alpha 1 antitrypsin deficiency

This early-stage trial tests a new drug called AIR-001 in 54 adults with alpha-1 antitrypsin deficiency (AATD) who have a specific genetic type (PiZZ). The study aims to check safety and how the body processes the drug. Participants receive increasing doses of AIR-001 under the s…

This study tests a new way to give Alpha1-Proteinase Inhibitor—a medicine that helps protect the lungs in people with Alpha-1 Antitrypsin Deficiency. Instead of getting it through a vein at a clinic, participants will receive it as a weekly injection under the skin. The trial wil…

This study tests a new gene-editing treatment called BEAM-302 for adults with Alpha-1 antitrypsin deficiency, a genetic condition that can cause lung and liver disease. The therapy is given as an infusion and aims to correct the faulty gene. The trial will enroll 106 people to ch…

This early-stage study tests a gene therapy for people with alpha-1 antitrypsin deficiency, a condition that can damage the lungs. The treatment is given once through a vein and aims to produce a special protein that protects the lungs. Researchers will check safety and measure p…

This study creates a confidential registry of people diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and those who are carriers. The goal is to gather detailed patient data over time to help researchers understand how the condition progresses and to support the developmen…

This study aims to create a prediction tool for people with emphysema caused by alpha-1-antitrypsin deficiency, a rare genetic disorder. Researchers will analyze clinical data, lab results, and lung CT scans from 230 patients to identify those at highest risk of death or needing …

This study follows 80 adults with PiMZ alpha-1 antitrypsin deficiency and mild-to-moderate COPD over three years. Researchers will use CT scans and blood tests to measure lung density changes and look for biomarkers that could be used in future treatment trials. No new treatment …

This study aims to learn more about alpha-1 antitrypsin deficiency, a genetic condition that can affect the lungs and liver. Researchers will enroll up to 50,000 people who are at risk due to symptoms or family history. Participants will complete questionnaires to help track heal…

This study from the University of Florida is looking at how two genetic lung conditions—Alpha-1 antitrypsin deficiency and cystic fibrosis—affect immune cells called macrophages. Researchers will collect blood and measure lung function in 220 adults to see how well these cells wo…