Alpha 1-antitrypsin deficiency

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 early-stage trial tests a new gene-editing medicine called TSRA-196 in 72 adults with a severe form of alpha-1 antitrypsin deficiency (the PiZZ genotype) who have lung or liver problems. The treatment is given by IV infusion and aims to raise levels of a protective protein. …

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 an experimental drug called fazirsiran in 160 adults with Alpha-1 antitrypsin deficiency who have moderate to severe liver scarring. The goal is to see if fazirsiran can reduce fibrosis and slow disease progression compared to a placebo. Participants will receive…

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 tests a medicine called fazirsiran for people with Alpha-1 antitrypsin deficiency who already have mild liver scarring. The drug works by reducing the buildup of an abnormal protein in the liver that causes damage. About 50 participants will receive either fazirsiran o…

This study is looking at whether a genetic condition called Alpha-1 antitrypsin deficiency (AATD) is more common in people who have shortness of breath and signs of airway blockage on breathing tests. Researchers will measure AAT levels and check for related gene mutations in 734…

This study follows 500 adults with alpha-1 antitrypsin deficiency (AATD) for up to 5 years to see how their liver disease progresses without any special treatment. Researchers will track changes in liver scarring, symptoms, and overall health using medical records and yearly ques…

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 looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

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 aims to understand why some people with alpha-1 antitrypsin deficiency (AATD) get more respiratory infections. Researchers will compare immune responses to a pneumonia vaccine (PCV20) in 30 adults who carry one abnormal copy of the SERPINA1 gene. Half have had frequent…

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…