SS) University of Pittsburgh 
Informed Consent 
Approved by Biomedical IRB, 
University of Pittsburgh on 
Consent to Act as a Subject in an Experimental Study 
Competent Adults (18 years of age or older) 
TITLE: 
Clinical Trial of Gene Therapy for Gaucher Disease 
INVESTIGATORS: 
John A. Barranger, M.D., Ph.D. 
Professor, Department of Human Genetics 
Graduate School of Public Health 
Dept, of Molecular Genetics & Biochemistry 
School of Medicine 
Dept, of Pediatrics, School of Medicine 
Principal Investigator 
Edward Ball , M.D. 
Professor of Medicine 
Chief, Division of Hematology/BMT 
Montefiore University Hospital 
University of Pittsburgh Medical Center 
Co-Investigator 
Sallie Boggs, Ph.D. 
Associate Professor 
Dept, of Radiation Oncology 
School of Medicine 
University of Pittsburgh 
Co-Investigator 
SOURCE OF SUPPORT: 
National Institutes of Health; University of Pittsburgh 
DESCRIPTION: 
This study is being done to evaluate gene therapy as a treatment for 
Gaucher disease. The specific purpose is to see if we can restore the ability 
of cells in your bone marrow and blood to break down a lipid or "fat" that 
accumulates in them. Some years ago we showed that cells grown from a patient's 
skin could be made normal by putting a good gene for an enzyme into them. The 
good gene makes the enzyme (called gl ucocerebrosidase or GC for short) that your 
cells lack. The good gene overcomes the deficiency of GC that causes Gaucher 
disease. We have also shown that only a small amount of enzyme activity in only 
a few cells is enough to treat Gaucher disease. My laboratory showed this by 
making GC which was taken up by cells called macrophages . This is the name we 
use for the cells that eat up (phages) big (macro) molecules. The macrophages 
Recombinant DNA Research, Volume 17 
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