HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy

Inclusion Criteria

• Patients must have a diagnosis of Fanconi anemia
• Patients must have one of the following hematologic diagnoses:
• Severe Aplastic Anemia (SAA), with bone marrow cellularity of <25% OR Severe Isolated Single Lineage Cytopenia and at least one of the following features:
• Platelet count <20 x 109/L or platelet transfusion dependence*
• ANC <1000 x 109/L
• Hgb <8 gm/dl or red cell transfusion dependence*
• Myelodysplastic Syndrome (MDS) (based on WHO or IPSS Classification
• Acute Myelogenous Leukemia (untreated, in remission or with refractory or relapsed disease)
• Donors will be either human leukocyte antigen (HLA) compatible unrelated or HLA-genotypically matched related donors (no fully matched sibling donor).
• Patients and donors may be of either gender or any ethnic background.
• Patients must have a Karnofsky adult, or Lansky pediatric performance scale status > 70%.
• Patients must have adequate physical function measured by:
• Cardiac: asymptomatic or if symptomatic then 1) left ventricular ejection fraction (LVEF) at rest must be > 50% and must improve with exercise or 2) Shortening Fraction > 29%
• Hepatic: < 5 x upper limit of normal (ULN) alanine transaminase (ALT) and < 2.0 mg/dl total serum bilirubin.
• Renal: serum creatinine <1.5 mg/dl or if serum creatinine is outside the normal range, then CrCl > 50 ml/min/1.73 m2
• Pulmonary: asymptomatic or if symptomatic, DLCO > 50% of predicted
• Each patient must be willing to participate as a research subject and must sign an informed consent form.
• Female patients and donors must not be pregnant or breastfeeding at the time of signing consent. Women must be willing to undergo a pregnancy test prior to transplant and avoid becoming pregnant while on study.

Exclusion Criteria

• Active CNS leukemia
• Female patients who are pregnant (positive serum or urine HCG) or breast-feeding.
• Active uncontrolled viral, bacterial or fungal infection
• Patient seropositive for HIV-I/II; HTLV -I/II