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

Full Title
A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients with Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction with Busulfan, Cyclophosphamide and Fludarabine

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).


To be eligible for this study, patients must meet several criteria, including but not limited to the following:

  • Patients must have a diagnosis of Fanconi anemia.
  • Patients must also have one of the following: AML, MDS, severe aplastic anemia, or severe isolated single-lineage cytopenia.
  • Patients must have adequate physical vital organ function to undergo transplant.

For more information and to inquire about eligibility for this study, please contact Dr. Farid Boulad at 212-639-6684.

Blood and Marrow Transplantation: Transplantation
Hematology: Aplastic Anemia
Hematology: Myelodysplastic Syndrome
Leukemia: Acute Myelogenous Leukemia
Leukemia: Myelodysplastic Syndrome
Pediatric Blood Disorders