GTI0101 (04/08/93) 
Page 8 of 35 
ABSTRACT 
Patients with Gaucher disease suffer from a lack of functional glucocerebrosidase (GC). Disease 
symptoms are a result of macrophage engorgement secondary to this enzyme deficiency. This study 
is designed to determine if the cDNA encoding normal GC can be introduced into macrophage 
precursors using a retroviral vector. CD34 + cells obtained from G-CSF mobilized peripheral blood 
stem cells or from bone marrow will be transduced ex vivo over a 72-hour period in the presence of IL- 
3, IL-6, and Stem Cell Factor with a GC retroviral vector. These transduced cells will be reinfused 
into the patient and the patient monitored for toxicities as well as evidence of successful gene transfer 
and expression. If peripheral blood stem cells are used this procedure will be repeated a total of 4 times 
with each treatment 2-4 months apart. If bone marrow is used, only one treatment with gene-modified 
cells will be used. 
Ten patients will be enrolled in the protocol. Two sites will be involved, the National Institutes of 
Health and Childrens Hospital of Los Angeles. 
Recombinant DNA Research, Volume 17 
[793] 
