Stem Cell Transplantation for Fanconi Anemia

Inclusion Criteria:

• Patients must be less than (<) 18 years of age with a diagnosis of Fanconi anemia.
• Patients must have an HLA-A, B, DRB1 identical unrelated donor or less than or equal to (≤)1 antigen mismatched related (non-HLA-matched sibling) or <1 antigen mismatched unrelated UCB donor. Patients and donors will be typed for HLA-A and B using serological or molecular techniques and for DRB1 using high resolution molecular typing.

• Patients with FA must have aplastic anemia (AA), myelodysplastic syndrome without excess blasts, or high risk genotype as defined below.

  • Aplastic anemia is defined as having at least one of the following when not receiving growth factors or transfusions
  • Platelet count <20 x 10^9/L
  • ANC <5 x 10^8/L
  • Hgb <8 g/dL
  • Myelodysplastic syndrome with multilineage dysplasia with or without chromosomal anomalies
  • High risk genotype (e.g. IVS-4 or exon 14 FANCC mutations, or BRCA1 or 2 mutations)

• Adequate major organ function including

  • Cardiac: ejection fraction greater than (>)45%
  • Hepatic: bilirubin, AST/ALT, ALP <2 x normal
  • Karnofsky performance status >70% or Lansky performance status >50%
• Women of child-bearing age must be using adequate birth control and have a negative pregnancy test

Exclusion Criteria:

• Available HLA-genotypically identical related donor
• History of gram negative sepsis or systemic fungal infection (proven or suspected based on radiographic studies)
• Refractory anemia with excess blasts, or leukemia
• Active central nervous system (CNS) leukemia at time of hematopoietic cell transplant (HCT)
• History of squamous cell carcinoma of the head/neck/cervix within 2 years of HCT
• Pregnant or lactating female
• Prior radiation therapy preventing use of total body irradiation (TBI) 450 centigray (cGy)