Clinical trials on Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder where the body does not produce enough of a protein called alpha-1 antitrypsin. The deficiency can lead to respiratory and liver diseases. In individuals with AATD, the lack of functional AAT allows enzymes like neutrophil elastase to damage lung tissue, which can lead to respiratory conditions such as chronic obstructive pulmonary disease (COPD). This damage includes the breakdown of elastin, a key component of lung tissue that maintains its elasticity, crucial for normal lung function. The deficiency of AAT also has implications for liver health. The protein can accumulate in the liver, leading to various liver diseases, from inflammation and fibrosis to cirrhosis, and sometimes even requiring liver transplantation in severe cases.


  • Lung damage: Reduced levels of alpha-1 antitrypsin can lead to conditions like emphysema, which causes breathing difficulties and worsens over time.
  • Liver disease: Liver disease can develop in both children and adults. It is one of the main causes of pediatric liver transplantation.
  • Skin conditions: Some people might develop panniculitis, a skin condition causing painful lumps.

Treatment methods

  • Augmentation therapy: Regular infusions of alpha-1 antitrypsin derived from donated human plasma to help protect the lungs.
  • Medications: Drugs to manage symptoms of lung diseases associated with AATD, such as bronchodilators and inhaled steroids.
  • Lifestyle changes: Avoiding smoking, maintaining healthy weight, and regular exercise to help manage symptoms.


The prognosis for individuals with Alpha-1 Antitrypsin Deficiency varies depending on the severity of symptoms and at what age they begin. With treatment, many individuals manage their symptoms and lead longer, more active lives. Without treatment, the disease may progress more quickly, leading to significant health issues earlier in life.
  • CT-EU-00118116

    Evaluating BEAM-302 Treatment for Adults with Alpha-1 Antitrypsin Deficiency

    This clinical study explores a treatment for adults with Alpha-1 Antitrypsin Deficiency (AATD), a condition that can affect the lungs and liver. The treatment being tested is called BEAM-302. The study aims to find the safest and most effective dose of BEAM-302 and to observe its effects on the body. It involves giving the treatment and monitoring the participants for any changes or improvements in their health. This study will help determine how well the treatment works and its potential side effects.

    • BEAM-302
  • Evaluating the safety and effectiveness of Fazirsiran in treating alpha-1 Antitrypsin Deficiency-associated liver disease

    This clinical trial is focused on a disease known as Alpha-1 Antitrypsin Deficiency (AATD). In this condition, the liver produces an abnormal form of the alpha-1 antitrypsin (AAT) protein, called Z-AAT. This abnormal protein builds up in the liver, causing damage and leading to liver scarring (fibrosis), continued liver damage (cirrhosis), and can eventually progress to severe liver disease.

    The study aims to test the safety and effectiveness of a drug called Fazirsiran (also known by its code names TAK-999, ARO-AAT, and ADS-001). Fazirsiran is designed to reduce the amount of the harmful Z-AAT protein in the liver, potentially slowing down or stopping the damage it causes.

    Participants in the study will be randomly assigned to receive either Fazirsiran or a placebo. This will be done to compare the effects of the drug with no treatment. Participants will receive Fazirsiran through injections and will be monitored over an extended period, with some receiving the treatment for up to 100 weeks. The study includes regular assessments to check for any side effects and to measure the drug’s impact on liver health and the levels of Z-AAT protein in the body.

    • placebo
    • Fazirsiran Injection
  • Study comparing INBRX-101 and Zemaira for Alpha-1 Antitrypsin Deficiency-Related Emphysema

    This clinical study focuses on Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can lead to lung diseases such as emphysema. AATD is caused by low levels of the protein alpha-1 antitrypsin (AAT), which helps protect the lungs from damage.

    The study compares two treatments: INBRX-101, a new investigational drug, and a standard therapy using plasma-derived Alpha1-Proteinase Inhibitor (A1PI), commonly known as Zemaira. INBRX-101 is designed to maintain higher and more stable levels of AAT in the blood than current treatments, potentially providing better protection for the lungs over time.

    The purpose of the study is to evaluate the effectiveness, safety, and how the body processes these treatments. Participants will receive either INBRX-101 or the standard A1PI therapy, with neither the participants nor the doctors knowing which treatment each person is getting (this is called a double-blind study).

    Participants will go through a screening phase to ensure they meet the study criteria. If they are currently on other A1PI therapies, they will need a break period (washout phase) before starting the treatment phase, which lasts about 32 weeks. During this time, participants will receive their assigned treatment regularly and undergo various health assessments, including blood and urine tests, lung function tests, and imaging studies like CT scans. The study will also include some additional sub-studies to gather more detailed data on how the treatments work in the body.

    The study aims to gather important information that could lead to better treatment options for people with AATD and related lung diseases. It will help determine if INBRX-101 offers a significant improvement over the current standard treatment.

    • INBRX-101
    • Zemaira
  • Inhalation therapy study for Alpha-1 Antitrypsin deficiency

    This study focuses on Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can lead to lung diseases such as emphysema. The study aims to evaluate the safety and effectiveness of an inhaled therapy using a drug called “Kamada-AAT for Inhalation” in adults who have moderate to severe airflow limitation due to AATD.

    The therapy being tested involves the daily inhalation of 80 mg of the Kamada-AAT drug using a nebulizer. This method is being compared to a placebo to assess its impact. By delivering the medication directly to the lungs, the study hopes to achieve better outcomes than traditional intravenous infusions.

    The primary purpose of this study is to determine if this inhaled treatment can improve lung function over time. Researchers will measure how well the lungs perform after 104 weeks of treatment. They will also look at changes in lung density and the overall health and quality of life of the participants.

    • Alpha 1-Antitrypsin
  • Fazirsiran in treating liver disease caused by alpha-1 Antitrypsin Deficiency

    This study focuses on Alpha-1 Antitrypsin Deficiency (AATD), a genetic disorder that can cause severe liver disease due to the buildup of an abnormal protein in the liver. The clinical trial is evaluating a new drug called fazirsiran (also known as TAK-999 or ARO-AAT). This drug is being tested to see if it can reduce liver scarring (fibrosis) in patients with AATD by decreasing the levels of the abnormal protein.

    The study will involve about 160 adult participants who have moderate to severe liver fibrosis. Participants will be randomly assigned to receive either fazirsiran or a placebo. The treatment will be administered through injections over a period of approximately four years. Researchers will primarily assess whether the drug can reduce the severity of liver fibrosis compared to baseline measurements taken at the beginning of the study.

    • Fazirsiran
  • Study of Belcesiran’s effect in alpha-1 antitrypsin deficiency liver disease

    This study is about a new drug named Belcesiran. It’s being tested on adults who have a problem with their liver because of a disease called AATLD (Alpha-1 Antitrypsin Deficiency-associated Liver Disease). The drug will be given to three separate groups of patients. There will be no more than 16 patients in the first two groups, and about 30 patients in the third group. Each group will have different ways of taking the medicine, with some differences in things like how long they get the treatment, how many doses they take, and when they get a second liver checkup.The aim is to find out if Belcesiran is safe to take, how patients react to it, and what it does in the body and to the disease.

    • Belcesiran