frequent than every 2 months. 
3 . 4 Risks. Hazards, and Discomforts 
This gene transfer protocol would be classified as 
offering no guarantee of direct benefit to patients 
enrolled on it, but posing little risk. Information 
obtained from this pilot study could benefit future 
patients with Fanconi anemia. None of the over 50 
patients who have received bone marrow, peripheral 
blood or tumor- inf iltrating cells transduced by 
retroviruses have had any adverse events which could be 
directly attributed to the gene transfer procedure. 
Patients will be exposed to the minimal hazards, 
including bleeding complications and infection, 
associated with placement of an apheresis catheter each 
cycle. They will be treated with G-CSF for 7 days 
every cycle and may experience bone pain, fever, or 
rash, and less commonly reversible elevation of hepatic 
enzymes, transient depression of platelet count, and 
exacerbation of pre-existing inflammatory conditions. 
During apheresis the patient may experience postural 
hypotension and paresthesias. 
After the end of the treatment portion of the 
protocol, patients will be requested to participate in 
further follow-up to evaluate the duration and extent 
of FACC gene transfer and expression. Follow-up will 
usually be performed on an outpatient basis and will 
require needle sticks for blood samples and additional 
bone marrow aspirates and biopsies. As the patient is 
involved in a gene therapy trial, a regulatory 
committee has requested that all patients be followed 
periodically for detection of side effects from the 
gene transfer procedure; this request includes that the 
patient be aware that an autopsy would be requested 
when the patient dies to evaluate presence and extent 
of gene transfer. 
4.0 PATIENT SELECTION 
4 . 1 Inclusion Criteria 
Patients must meet the following criteria within 30 
days prior to study entry (Day 0) unless otherwise 
noted: 
4.11 Males or females, age > 5 years of age 
4.12 Diagnosis of Fanconi anemia, complementation group 
C, as confirmed by: 
4.121 Diepoxybutane or mitomycin C testing 
and 
4.122 DNA analysis indicating FACC mutations 
4.13 Adequate baseline organ function as assessed by 
the following laboratory values within 30 days 
prior to study entry (day -30 to 0) : 
► Adequate renal function with estimated 
creatinine clearance > 50 ml /min. This will 
be determined by serum creatinine and 24 -hour 
urine creatinine ordered concurrently. 
► Adequate liver function with SCOT, SGPT and 
alkaline phosphatase < 5 times the ULN [if 
transaminases > than the upper limit of 
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Recombinant DNA Research, Volume 19 
