Informed Consent! j 
Retroviral Mediated Transfer of cDNA for Fanconi ' s Anemia Type C 
into Hematopoietic Stem Cells of Patients with Fanconi ' s Anemia ■; 
BACKGROUND AND PURPOSE I, 
I 
Fanconi ' s anemia is an inherited disorder that can produce bone li 
marrow failure. Some patients with Fanconi ' s anemia have ■' 
physical defects, usually involving the skeleton or kidneys. The ■! 
major problem for most patients is aplastic anemia. In aplastic ■; 
anemia, the blood counts for red blood cells, white blood cells, 
and platelets are low because the bone marrow fails to produce I, 
these cells. Some patients with Fanconi ' s anemia also can ■! 
develop leukemia or cancers in other organs. I! 
The only successful permanent treatment for the bone marrow Ij 
failure caused by Fanconi ' s anemia is bone marrow I 
transplantation. Bone marrow transplantation has been performed H 
most successfully using sibling donors whose cells are a perfect B 
match with the patient's. Unfortunately, the majority of H 
patients do not have appropriate family donors. A few cases of ■ 
Fanconi ' s anemia have also been cured by bone marrow H 
transplantation from donors other than siblings, as for example B 
from individuals with similar genes from other families, but the B 
risks of this procedure are high. In general, there are many B 
serious risks associated with bone marrow transplantation, B 
especially from alternative donors. Death following bone marrow B 
transplantation from a matched sibling may occur in 25-30 percent B 
of patients and the rate may be higher using other donors. Other B 
types of therapy, including male hormones, corticosteroids, and B 
hematopoietic growth factors may temporarily increase blood B 
counts but do not cure the disease. You (your child) will be B 
eligible for this protocol if you (your child) are not pursuing B 
immediate bone marrow transplantation; however, participation in B 
this protocol will not preclude subsequent bone marrow B 
transplantation if it becomes available for you (your child) . B 
Many laboratory studies have suggested that Fanconi ' s anemia is B 
due to an inherited defect in the ability of cells to repair DNA. B 
Recently, the gene for one of the four types of Fanconi ' s anemia, B 
type C, has been identified. This is a novel gene, in that it is B 
not similar to other known genes, and its function has not been B 
characterized. It is known that this gene is defective in B 
patients with Fanconi ' s anemia type C. B 
GENE THERAPY FOR FANCONI ' S ANEMIA fl 
Studies in our own laboratory have suggested that Fanconi ' s B 
anemia type C may respond to gene therapy. We have placed the I 
normal Fanconi ' s anemia type C gene into a virus that acts as a ■ 
gene- carrier and introduced the gene into cells, derived from B 
Fanconi ' s anemia type C patients. In the laboratory, when we B 
have compared cell lines and bone marrow cells from Fanconi ' s B 
anemia patients before and after this procedure, we see a return B 
towards normal of cell growth, resistance to the chemical agents B 
(5721 
Recombinant DNA Research, Volume 19 
