B. Posttransplant Evaluation 
The following clinical and laboratory evaluations will be performed for all patients after 
infusions of transduced peripheral blood cells at monthly intervals during the first year 
after transplantation, every 3 months during the second year after the last infusion and 
then yearly unless there is clinical reason to see the patient more often. 
1. Physical Examination. 
2. Karnofsky Performance Status. 
3. Urinalysis. 
4. Serum Chemistries: Uric acid, calcium, phosphorus, magnesium, amylase 
transaminases (SGOT, SGPT), alkaline phosphatase, LDH, total bilirubin, 
triglycerides, BUN, creatinine, albumin, total protein, electrolytes, glucose, non- 
tartrate inhibitable acid phosphatase and angiotensin converting enzyme. 
5. Hematology: Complete blood count (CBC), differential, platelets, PT 
(Prothrombin Time), PTT (Partial Thromboplastin Time), and fibrinogen. 
6. Pregnancy Test: Serum pregnancy test will be repeated monthly during the first 
year. 
7. Liver-Spleen Size: Optional, based on clinical assessment. 
8. Glucocerebrosidase enzyme level determination: Collect PBMCs. 
9. S + L-assay for helper virus. 
10. Freezing Specimens: Additional serum, plasma, and cells will be separated and 
frozen. 
11. DNA/RNA Analysis: Circulating mononuclear cells will be analyzed using PCR- 
related Techniques for the presence of vector gene sequences. 
12. Glucocerebrosidase gene mutation. 
13. Marrow MRI analysis: Analysis of marrow involvement will be performed if 
clinically indicated. 
14. X-ray of bone affected by disease. 
(Send samples for 8-12 to Dr. Schuening’s lab.) 
C. Evaluation upon premature withdrawal 
1. Discontinued patients who have not received transduced cells will not be followed 
after they are discharged. 
2. Patients who are discontinued or withdraw before completing all cycles, but have 
completed at least 1 cycle (patient was reinfused with transduced cells), will be 
asked to return to the clinic to be evaluated according to section B. 
D. Autopsy Request: 
It is very unlikely that a patient will die during their participation in this protocol. 
Should death occur, an autopsy will be requested to determine the extent of gene 
transfer into important organs such as marrow, liver, and spleen. 
10. Special Considerations 
A. Adverse Reaction Reporting Requirements 
This protocol uses retrovirus-mediated genetic material which is considered an IND 
agent. Toxicities that are not transplant related should be considered IND related. The 
following adverse reactions must be reported by the principal investigator or his 
associates to the NIH Office for Protection from Research Risks (OPRR) and the local 
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