Researchers at Saint Louis University will study alpha-1 antitrypsin deficiency in adults, an inherited disease that can cause liver damage, to answer various questions that could lead to effective methods of treatment.
The multi-center study will enroll a total of 100 patients at three locations in the United States: Saint Louis University, University of Florida, Gainesville and University of California, San Diego. Participants enrolled in the study will complete yearly research visits for a period of five years.
Alpha-1 antitrypsin deficiency is a condition in which the body does not produce enough of the proteins that protects the lungs and the liver from damage. Jeffrey Teckman, M.D., professor of pediatrics at Saint Louis University and study chair, received a $1.4 million grant from the Alpha-1 Foundation in 2012 to understand the natural history and progression of the disease. The study also plans to analyze the demographics, environmental and genetic factors, and social and family history associated with more severe liver disease.
"Alpha-1 is underdiagnosed and can affect both children and adults. At this point, we don't have enough information about who it affects and how fast the liver damage progresses," Teckman said. "We will be the first study that examines and follows a group of adults over several years to understand the disease."
Alpha-1 liver disease was discovered almost 50 years ago, but researchers have not yet identified many of the basic questions that will lead to possible treatment options. The study will be helpful in passing along information about the progression of Alpha-1 liver disease in patients to companies that are looking to develop pharmaceuticals and other treatments.
"Liver disease in adults due to alpha-1 antitrypsin deficiency can be severe, leading to cirrhosis and liver cancer in some patients," said Adrian Di Bisceglie, M.D., chair of the department of internal medicine and principal investigator of the study at Saint Louis University. "However this condition has not been studied sufficiently for us to get an idea of how often these life-threatening complications occur and what factors contribute to them."
Teckman has worked with the Alpha-1 community for 15 years. Two years ago, the Alpha-1 Foundation developed a task force dedicated to finding out more about the liver disease. During the committee meetings, Teckman and other researchers identified the need to study a group of adults in order to discover basic questions about Alpha-1 liver disease to drive research for new treatment.
To be eligible for the study, patients need to be at least 18 years of age and diagnosed with Alpha-1 antitrypsin deficiency. The study includes a free exam and liver biopsy at the start of the enrollment and again in the fifth year of the study to help the researchers learn what causes liver disease in some patients and how it progresses.