EARENT OR GUARDIAN CONSENT FOR A CHILD TO PARTICIPATE AS A SUBJECT IN AN 
I NVEST I GATIO NA L STU D Y 
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 
Purpose of Study: The purpose of this study is to determine whether it is possible to correct 
a dysfunction of the liver in patients with a disease called "familial hypercholesterolemia". In 
this disease the liver is unable to remove 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 the "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. 
Your child has been asked to participate in this study because he/she has the disease, 
familial hypercholesterolemia. We will attempt to correct the defective function within your 
child's liver cells by adding to their cells the gene that produces the normal LDL receptor. If 
this therapy is successful, your child's 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 child's liver cells 
by first removing a piece of his/her liver about the size of a golf ball. 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 child’s liver 
cells using the following technique. The liver cells are exposed to a mouse virus which carries 
the normal gene. The normal gene then enters your child's liver cells. These corrected liver 
cells are then infused into a vein that leads to your child's liver where they will implant and 
grow. Because these cells now produce the working protein for "fat" removal, we hope the cells 
will remove the excess "fats" from your child's blood and the level of "fats" will decrease 
towards the normal range. After infusing the liver cells back into your child's liver, we will 
study the function of these corrected cells, the levels of "fats" in his/her blood, and the way 
his/her body reacts to the corrected cells. 
.(initials) 
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Recombinant DNA Research, Volume 15 
