A study that will be conducted at a trio of sites around the nation, including the University of Florida, will seek to fill in knowledge gaps surrounding a liver-destroying genetic disorder.
Although people of all ages suffer from alpha-1 antitrypsin deficiency, the study will focus on the disease in adults.
The research, led by Jeffrey Teckman, professor of pediatrics at Saint Louis University, is being conducted with a 2012 grant of $1.4 million from the Coral Gables-based Alpha-1 Foundation.
The study is an outgrowth of meetings of a task force that Alpha-1 Foundation organized two years ago. The researchers who took part decided there was a need for a study of adults with alpha-1 antitrypsin deficiency. The goal of the study is to gain information about the disease that will yield new treatment options.
“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, the director of the Division of Gastroenterology and Hepatology at the Saint Louis University School Medicine, said. “We will be the first study that examines and follows a group of adults over several years to understand the disease.”
In alpha-1 antitrypsin deficiency, the body of the sufferer does not produce enough of the protein molecule alpha-1 antitrypsin, which protects tissue from enzymes produced by cells involved in the inflammatory reponse.
Alpha-1 antitrypsin deficiency can lead to impaired liver function; and in some cases, cirrhosis, liver failure or even liver cancer can result. It also affects the lungs, where it can cause problems such as emphysema and chronic obstructive pulmonary disease.
Alpha-1 antitrypsin deficiency was indentified in 1963 at the University of Lund, in Sweden. More than 50 years later, however, the continuing gaps in knowledge about the disease are hampering efforts to develop 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, chair of the Saint Louis University Department of Internal Medicine and principal investigator of the study. “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.”
The study, which will cover five years, is trying to recruit 100 people 18 and older with alpha-1 antitrypsin deficiency. Study participants will receive a free medical exam and undergo an initial liver biopsy and another at the end of the study.
For additional information, or to enroll in the research study, please contact Rosemary Nagy, clinical research coordinator, at (314) 977 9350(314) 977 9350; or Jacki Cerkoski, clinical research nurse, at (314) 977-5239(314) 977-5239.