VI. Informed Consent 
CONSENT TO ACT AS A SUBJECT IN AN INVESTIGATIONAL STUDY 
TITLE: Ex Vivo Gene Therapy of Familial Hypercholesterolemia 
Principal Investigator: James M. Wilson, M.D., Ph.D. 
Chief, Division of Molecular Medicine and Genetics 
Associate Professor of Internal Medicine 
Associate Professor of Biological Chemistry 
Purpose of Study: The purpose of this study is to determine whether it is possible to correct 
j a dysfunction of the liver in patients with a disease called "familial hypercholesterolemia". In 
this disease the liver is unable to removes lipids ("fats") from the blood. As a result, very high 
levels of "fats" accumulate in the blood. This occurs because a liver cell protein (called the LDL 
receptor) that removes "fats: from the blood does not work. This disease can cause 
atherosclerosis or "hardening of the arteries". Serious damage to the heart and the blood vessels 
can occur. The damaged vessels can produce heart attacks, strokes, and possibly death. 
You have been asked to participate in this study because you have the disease, familial 
hypercholesterolemia. We will attempt to correct the defective function within your liver cells 
by adding to your cells the gene that produces the normal LDL receptor. If this therapy is 
successful, your liver cells will make a normal version of the protein that will remove the 
excess "fats" from the blood. 
We will attempt to correct the defective LDL receptor protein in your liver cells by 
first removing a piece of your liver about the size of a chicken egg. This liver tissue will be cut 
into small pieces to release the liver cells and the cells will be grown in plastic plates in the 
lab. We will then place the gene that produces the normal LDL receptor into your liver cells 
using the following technique. The liver cells are exposed to a mouse virus which carries the 
normal gene. The normal gene enters your liver cells. The corrected liver cells are then 
infused into a vein that leads to your liver where they will implant and grow. Because the cells 
now produce the working protein for "fat" removal, we hope the cells will remove the excess 
"fats" from your blood and the level of these "fats" will decrease towards the normal range. 
After infusing the liver cells back into your liver, we will study the function of these corrected 
cells, the levels of "fats" in your blood, and the way your body reacts to the corrected cells. 
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