Clinical Research Directory

AATD-Liver Scan Study

The goal of this study is to provide liver stiffness screenings (FibroScans) to patients with Alpha-1 Antitrypsin Deficiency for the following purposes: To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene. To assess whether the coexistence of metabolic or environmental cofactors, such as obesity, diabetes, alcohol use, or hepatic steatosis, modifies the risk of liver fibrosis among those with alpha 1 antitrypsin deficiency.

A Study of the Safety and Efficacy of Prime Editing (PM647a) in Participants With Alpha-1 Antitrypsin Deficiency

The purpose of this study is to evaluate the safety, tolerability, biological activity, and initial efficacy of PM647a, an investigational Prime Editing therapy, in adults and adolescents with Alpha-1 Antitrypsin Deficiency (AATD). AATD is caused by a mutation (change) in a gene called SERPINA1 that prevents the cells in your liver from producing a functional protein (alpha-1 anti-trypsin; AAT) that helps protect your lung tissue. PM647a is designed to precisely correct the prevalent disease-causing mutation (SERPINA1 Pi\*Z (E342K)) with the goal of restoring functional AAT. This is the first study of PM647a in humans. Participants will receive a single intravenous (IV) infusion of PM647a and will be monitored closely to evaluate safety, how the body responds to treatment, changes in AAT protein levels, and whether treatment may improve signs and symptoms of AATD.

A Phase 1b/2a, Open-label Single Ascending Doses and Multiple Ascending Doses Study in Participants With Pi*ZZ AATD

The purpose of this open-label study is to assess the safety, tolerability, pharmacodynamics, and pharmacokinetics of WVE-006 in participants with alpha-1 antitrypsin deficiency (AATD) following Period 1 single ascending dose (SAD) and Period 2 multiple ascending doses (MAD), respectively.

Alpha-1 Antitrypsin Deficiency Adult Liver Study

The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, and undiagnosed. In addition, the investigators believe that the genetic and environmental factors that play an important role in the development of alpha-1 antitrypsin (AAT) liver disease, can be identified by comparing a cohort database of clinical disease information to linked biospecimen and DNA samples.

The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study

The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.

Lung Disease and Its Affect on the Work of White Blood Cells in the Lungs

The purpose of this study is to look at how Alpha-1-antitrypsin (AAT) deficiency and Cystic Fibrosis (CF) affect white blood cells in the lungs, called macrophages, and their ability to work.