Alpha-1 Antitrypsin Deficiency (AATD) Clinical Trials

Alpha-1 antitrypsin deficiency (AATD) is an autosomal recessive genetic disorder affecting alpha-1 antitrypsin (AAT) production, a protease inhibitor that protects lung tissue from neutrophil elastase-mediated damage. Individuals with severe AAT deficiency (PiZZ genotype) have AAT levels less than 15% of normal, insufficient to protect against lung damage. Without protection, neutrophil elastase damages the elastic fibers of the lung, causing emphysema typically in lower lung lobes (in contrast to smoking-related emphysema in upper lobes).

The most common symptoms of Alpha-1 Antitrypsin Deficiency include Early-onset emphysema and chronic obstructive pulmonary disease (COPD), Shortness of breath with exertion, Chronic cough, Liver disease ranging from neonatal cholestasis to cirrhosis, Liver failure in severe cases, among others. Alpha-1 Antitrypsin Deficiency affects approximately 1 in 2,500 to 3,500 people; affects approximately 100,000 Americans. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Alpha-1 Antitrypsin Deficiency from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Alpha-1 augmentation therapy (infusions of AAT) can stabilize lung function and slow progression in some patients. Clinical trials are evaluating new augmentation therapies, gene therapy approaches, and small-molecule therapies to increase endogenous AAT production.

Yes. As of September 2026, Trial Friend lists 1 FDA-approved drug used to treat Alpha-1 Antitrypsin Deficiency: Prolastin-C (alpha-1 proteinase inhibitor (human)), first approved in 1987.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Alpha-1 Antitrypsin Deficiency is caused by variants in the SERPINA1 gene. The ZZ genotype carries the highest risk of lung and liver disease; SZ carries increased lung risk, and MZ a slightly increased risk.

It follows autosomal codominant inheritance. The condition affects approximately 1 in 2,500 to 3,500 people; affects approximately 100,000 Americans. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Alpha-1 Antitrypsin Deficiency looks at the SERPINA1 gene. The ZZ genotype carries the highest risk of lung and liver disease; SZ carries increased lung risk, and MZ a slightly increased risk.

It follows autosomal codominant inheritance.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Alpha-1 Antitrypsin Deficiency clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Alpha-1 Antitrypsin Deficiency clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.