Alpha-1 Antitrypsin Deficiency (AATD)

Studies Actively Enrolling

The Role of Diseases in Macrophage Function

Alpha-1-antitrypsin (AAT) deficiency and Cystic Fibrosis (CF) share a similar pathway during the folding of the affected protein. In both conditions the mutation leading to the disease causes a misfolding of the affected protein causing several biological effects that we intend to explore. Investigators will collect peripheral blood monocytes, pulmonary function tests and serum C-reactive protein levels from PIMM, PIMZ, PISZ, PIZZ and other rare allele individuals, along with healthy controls and individuals with cystic fibrosis (CF)specifically, homozygous for Delta F508 CFRT mutation, measure the differences in the gene expression of AAT and various other genes in these monocytes at various stages of maturation to macrophages, evaluate the differences in the macrophage function, and determine the mechanisms contributing to these differences.

Principal Investigator: Mark Brantly, MD link:

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

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

This is a multi-centered study to compare two doses of alpha-1 MP® to placebo using chest CT measurement as an efficacy endpoint.

Principal Investigator: Mark Brantly, MD link:

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 link:

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 link:

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 link:

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

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