D. To determine whether repeated infusions of transduced peripheral blood repopulating 
cells increase the level of glucocerebrosidase activity in patients with Gaucher’s disease. 
5. Patient Selection 
A. Inclusions 
1. Patients £ 18 years of age with Type 1 Gaucher’s disease as confirmed by 
a) glucocerebrosidase enzyme level determination, or 
b) DNA sequence analysis 
2. Patients receiving glucocerebrosidase treatment must a) have had significant signs 
and symptoms of Gaucher’s disease prior to treatment with glucocerebrosidase 
and b) have responded to this treatment in a measurable way in at least two of 
the following criteria: 
a) an increase in hemoglobin of 2 g/dl 
b) an increase in platelet count of 50% 
c) a decrease in spleen size of at least 25% or 
a decrease in liver size of at least 25% 
d) an improvement in MRI or X-ray of the bones 
e) a 50% decrease in non-tartrate inhibitable acid phosphatase 
f) a 50% decrease in angiotensin converting enzyme 
3. Patients not receiving glucocerebrosidase treatment must have measurable clinical 
disease in form of at least two of the following signs and symptoms: 
a) splenomegaly or hepatomegaly 
b) anemia with a hemoglobulin < 11 g/dl 
c) thrombocytopenia with a platelet count < 90,000/mm 3 
d) disabling bone pain with degenerative changes on x-ray films 
e) pulmonary compromise with clubbing and hypoxemia (Pa0 2 < 70%) 
f) biopsy proven cirrhosis and elevation of hepatic parenchymal enzymes 
g) esophageal variceal bleeding 
4. Adequate baseline organ function as assessed by the following laboratory values: 
a) creatinine clearance > 50 ml/min 
b) SGOT, SGPT and alkaline phosphatase ^ 5 times upper limit of normal 
(ULN) 
c) PT and PTT < 1.5 times ULN 
d) Platelets ^ 50,000/mm 3 
e) WBC > 2,000/mm 3 
f) absolute neutrophil count * 1,000/mm 3 
g) serum amylase £ 1.5 times ULN 
h) bilirubin ^ 2.5 mg/dl 
i) triglyceride < 400 mg/dl 
5. Ability to give informed consent. 
6. Normal cardiac function by history and physical exam. 
7. Karnofsky Performance Status ;> 60%. 
B. Exclusions 
1. Pregnant or lactating females; patients must practice adequate birth control; 
females of child-bearing potential must have a negative serum beta-HCG 
pregnancy test. 
2. Patients with acute infections. 
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Recombinant DNA Research, Volume 18 
