A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients with Fanconi Anemia

Fanconi anemia (FA) is a genetic disease characterized by the inability to repair injury to DNA. Patients can have (1) physical abnormalities and (2) bone marrow problems which may result in bone marrow failure (causing aplastic anemia), or gives rise to a pre-leukemia called myelodysplastic syndrome (MDS) or leukemia (typically acute myelogenous leukemia, or AML).

If bone marrow and blood problems arise, the complications can be fatal. Currently, the only treatment for these blood and marrow disorders is transplantation of stem cells from a healthy donor. A combination of low doses of radiation to the whole body (total body irradiation) and low doses of the chemotherapy drugs cyclophosphamide and fludarabine have been used to treat FA in the past. Unfortunately, the use of radiation can increase the risk of secondary cancers later on.

The purpose of this study is to determine whether researchers can perform the stem cell transplant using chemotherapy drugs but without the radiation, in an effort to eliminate the risks of radiation. A chemotherapy drug called busulfan would be used instead of the radiation and added to the other two drugs usually used for transplantation of patients with FA (cyclophosphamide and fludarabine).