Detailed Description of Participation: Your child's participation in this study involves a 
number of very complicated steps and procedures. These will be explained individually in the 
order that they will be done. You should be aware that you can withdraw your child at any point 
in the study without jeopardizing your child's future care at the hospital. 
Initial Evaluation : Your child will undergo an extensive evaluation to determine if he/she is 
eligible to participate in this study. We will conduct a medical history and physical exam, blood 
tests (which will remove about 2 to 3 teaspoons of their blood with a needle), urine analysis, 
X-rays and electrocardiogram. Because patients with familial hypercholesterolemia sometimes 
experience hardening of the arteries of the heart, we may perform a cardiac catheterization. If 
your child requires this, that procedure and its risks will be explained thoroughly and your 
consent will be obtained separately. 
Liver Surgery: Your child will be admitted to the hospital one week before the operation that 
removes part of his/her liver. During this one week time period, the levels of "fats" in his/her 
blood will be monitored daily. One to two teaspoons of blood will be drawn from your child 
every day during this week. 
We will next perform the surgery that removes part of your child's liver. He/she will 
receive general anesthesia (drugs) that puts them to sleep. A tube will be inserted through 
your child's mouth into his/her lungs and a machine will breathe for him/her during the 
surgery. The surgeon will make a 4 inch cut across his/her abdomen just below his/her ribs. 
The surgeon will then remove the left part (15-20%) of the liver, being careful not to damage 
the rest of the liver. A tube will then be placed in a blood vessel which leads to the liver. This 
tube will be used three days later to infuse the corrected liver cells (see below). The surgeon 
will then close the wound by suturing (sewing) or stapling it shut. We will awaken your child 
and watch him/her closely in the recovery room to determine if any complications occur 
(explained below). After your child is stable, we will take him/her back to their hospital room 
so that he/she can recover. Your child will be able to leave the hospital two weeks after this 
surgery, although he/she may experience some pain and discomfort for a much longer period. 
Reinfusion of the Corrected Liver Cells : Three days after your child's surgery, he/she will be 
taken to a special room where doctors will to make sure that the tube is still in the blood vessel 
that leads to his/her liver. The doctors will then take the liver cells (that have been given the 
normal gene for the LDL receptor) and infuse them through this tube. They will then remove 
the tube. Your child will remain in the hospital for 7-10 days after infusion of the corrected 
liver cells so that we can monitor him/her for possible complications of the therapy (explained 
below). The total length of your child's stay in the hospital for the liver surgery and infusion of 
the liver cells will be approximately 3 weeks. It is possible that there may be technical 
problems with either isolation of the cells or placement the normal gene into your child's liver 
cells. If this occurs, we may be unable to reinfuse your child's liver cells back into his/her 
liver and the study would have to be terminated at this point. 
.(initials) 
Recombinant DNA Research, Volume 15 
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