Alpha-1 Study – Ages 14-17

STUDY BASICS

If your child has Alpha-1-Antitrypsin deficiency (ATD) and liver disease, he or she may be able to participate in a research study to find out if the drug carbamazepine (Tegretol®) can help to prevent or treat liver disease in people with ATD. Participants receive carbamazepine or a placebo for one year. Travel expenses compensated.

STUDY PURPOSE

Alpha-1 Antitrypsin is a protein made in the liver. For people with the genetic disorder Alpha-1-Antitrypsin deficiency (ATD), these proteins are abnormally shaped and get stuck inside the liver cells. The buildup of these abnormal cells can result in significant damage to the liver and lungs, and other problems. ATD affects 1 in 2,000 individuals; however, only about 8% of those develop serious liver disease such as cirrhosis. At the present time, there is no way to prevent or treat ATD-associated liver disease, and researchers do not know why some people develop liver disease and some do not. Recently, however, it was discovered that the drug carbamazepine (CBZ) could stimulate the process that removes abnormal proteins from cells and decrease the amount of abnormal proteins in the liver. Researchers hope that carbamazepine may help to prevent or reverse liver disease in people who have ATD. The purpose of this research study is to determine if CBZ is an effective treatment for liver disease in persons with ATD.

COULD THIS STUDY BE RIGHT FOR YOUR CHILD?

• Ages 14-17
• Have Alpha-1-Antitrypsin deficiency (ATD) and liver disease

WHAT PARTICIPANTS CAN EXPECT

Study participation involves multiple visits over a little more than 1 year. An initial screening visit to find out if you qualify for the study includes exams, blood work, a liver biopsy and liver pressure monitoring. Participants who do qualify for the study will have 6 study visits during the year. It is important to know that some people in this study will receive carbamazepine (CBZ) and some will receive a placebo. The placebo looks just like CBZ but does not contain any CBZ. You will be assigned by chance, like the flip of a coin, to receive either CBZ or placebo.