ABSTRACT 
Scientific Abstract 
Gaucher disease is an autosomal recessive storage disorder which causes an excess 
accumulation of glucocerebroside in bone marrow-derived cells called macrophages due to the 
functional absence of the enzyme glucocerebrosidase. Patients with Gaucher disease will be 
treated by gene therapy by inserting the cDNA for the normal glucocerebrosidase (GC) enzyme 
into hematopoietic stem cells (CD34+). Either G-CSF mobilized peripheral blood or bone 
marrow will be harvested from the patient and enriched for CD34-F cells. The CD34+ cells 
will be transduced with retroviral vector supernatant containing the cDNA for GC, over 72 hours 
in the presence of IL-3, IL-6 and stem cell factor. The transduced cells will be reinfused 
intravenously into the patient. Patients will be retreated four times 2-4 months apart if 
peripheral blood stem cells are treated. Bone marrow will be treated only one time. The patient 
will be monitored for any evidence of toxicity and for the number of cells containing the 
retroviral vector. If enough cells are found to contain the retroviral vector the cells of the 
subjects will also be evaluated for the expression of GC. It is hoped that the information 
obtained from this study will permit the development of gene therapy for Gaucher disease. 
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Recombinant DNA Research, Volume 17 
