Alpha-1 Antitrypsin Deficiency (AATD) Studies

Studies Actively Enrolling

The Role of Diseases in Macrophage Function

The purpose of this research study is to evaluate the differences in inflammatory markers in the blood, pulmonary function results, and gene expression in patients with alpha 1-antitrypsin deficiency (AATD), Cystic Fibrosis (CF) patients with a Delta F 508 mutation or in individuals without these genetic conditions.

Principal Investigator: Mark Brantly, MD

Clinicaltrials.gov link: http://clinicaltrials.gov/ct2/show/NCT01851642?term=alpha-1+antitrypsin+and+macrophage&rank=1

If you are interested in participating in this study or would like more information, please contact Jesse West 352-273-8666.


SPARTA GTi1201: Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)

The purpose of this research study is to investigate whether the study drug called “Alpha1-Proteinase Inhibitor (Human), Modified Process” also known as Alpha-1 MP is safe and effective in slowing down the progression of lung damage in patients with Alpha1-antitrypsin deficiency (AATD). 

Principal Investigator: Mark Brantly, MD

Clinicaltrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT01983241?term=Grifols&rank=25

If you are interested in participating in this study or would like more information, please contact Jesse West 352-273-8666.


Pending Studies

Inhibrx: INBRX-101: An open-label, adaptive design, multicenter, Phase 1 study to assess the safety and pharmacokinetics of single and repeat IV doses of Inhibrx rhAAT-Fc (INBRX-101) in adults with alpha-1 antitrypsin deficiency (AATD)

This research is being done to test INBRX-101 as a potential new drug to treat patients with Alpha-1 Antitrypsin Deficiency (AATD). The study drug is an artificial form of Alpha-1 Antitrypsin (AAT) that has been altered to last longer in the body; this will be the first time given to humans. The aim of the study is to see if INBRX-101 is safe and to see what happens to the drug in the bodies of AATD patients.

Principal Investigator: Mark Brantly, MD

If you are interested in participating in this study or would like more information, please contact Jesse West 352-273-8666.


Arrowhead: ARO-ATT2001: A Placebo-Controlled, Multi-dose, Phase 2/3 Study to Determine the Safety, Tolerability and Effect on Liver Histologic Parameters in Response to ARO-AAT in Patients with Alpha-1 Antitrypsin Deficiency (AATD)

The main purpose of the study is to see how safe and well tolerated ARO-AAT is, and to see if low, medium, and high doses of the study treatment will decrease Alpha-1 Antitrypsin in the blood and in the liver compared to a placebo, or dummy injection. 

Principal Investigator: Mark Brantly, MD

If you are interested in participating in this study or would like more information, please contact Jesse West 352-273-8666.


Kamada-AAT (Inhaled)-008: A Prospective Phase III Multi-center, Placebo Controlled, Double Blind Study to Confirm Efficacy and Safety of “Kamada-AAT for Inhalation” 80 mg per day in Adult Patients with Congenital Alpha-1 Antitrypsin Deficiency with Moderate Airflow Limitation (50% ≤ FEV1 < 80% of predicted; FEV1/SVC ≤ 70%)

The main purpose of this study is to find out if Kamada-AAT for Inhalation can slow the progression of COPD by measuring how well the lungs work (lung function), to learn how safe the study drug is, if there are side effects compared to placebo, and whether the study drug can help preserve the structure of the lungs.

Principal Investigator: Mark Brantly, MD

If you are interested in participating in this study or would like more information, please contact Jesse West 352-273-8666.


Studies Enrolling by Invitation

Alpha-1 Foundation DNA and Tissue Bank

This is a banking protocol to provide researchers access to blood and tissue specimens for Alpha-1-antitrypsin research.

Principal Investigator: Mark Brantly, MD

Clinicaltrials.gov link: http://clinicaltrials.gov/ct2/show/NCT00884455?term=AATD&rank=28

If you would like more information, please contact Valeria Segui 352-273-6339 or 855-476-1227


Completed Enrollment

Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (AATD)

We hypothesize that individuals with Alpha-1 Antitrypsin (AAT) deficiency have ongoing liver injury which is not detected by the usual blood tests used to look at liver function. This ongoing liver injury leads to cirrhosis in a significant number of adults with AAT deficiency. Testing this hypothesis will require an initial evaluation for liver disease with liver function testing and imaging, and then histologic confirmation by liver biopsy.

Principal Investigator: Mark Brantly, MD

Co- Principal Investigator: Virginia Clark,MD

Clinicaltrials.gov link: http://clinicaltrials.gov/ct2/show/NCT01810458?term=liver+disease+in+AAT&rank=5


Adverum ADVM-043-01: Phase 1/2 Study of IV or Intrapleural Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human α1- antitrypsin cDNA (ADVM-043) to Individuals with α1-antitrypsin Deficiency.

Adverum ADVM-043-03: Follow up study for the Adverum Gene Transfer Study participants


Closed Studies

Alpha-1 Antitrypsin Deficiency: Understanding and Identifying. Does a Short Video Improve Physician Understanding and Increase Testing?

Almost 13 million adults in the United States have Chronic Obstructive Pulmonary Disease (COPD). Alpha-1 Antitrypsin Disease (AATD) is an inherited cause of COPD. COPD associated AATD is taught to medical students. Yet, fewer than 10% of Americans with AATD have been diagnosed and the average interval between onset of symptoms and diagnosis is over 8 years. Previous research has demonstrated a low level of knowledge about AATD among physicians, while research with medical students demonstrates that core basic clinical knowledge is lost during clinical years.


Pulmonary Rehabilitation Participation and Awareness among Patients with Alpha-1 Antitrypsin Deficiency: A Survey


KAMADA: Phase II, Safety and ELF Study of “Kamada-API for Inhalation”

This study plans to measure concentration of active and antigenic AAT (Alpha-1 antitrypsin) in ELF and serum as well as to evaluate the safety and tolerability of the medication.

Principal Investigator: Mark Brantly, MD

Clinicaltrials.gov link: http://www.clinicaltrials.gov/ct2/show/NCT02001688?term=Kamada&rank=2


A Study to Assess Safety and PK of Liquid Alpha1-Proteinase Inhibitor (Human) in Treating Alpha1-Antitrypsin Deficiency

Clinicaltrials.gov link: https://clinicaltrials.gov/ct2/show/NCT02282527?term=GTi1402&rank=1