Stem Cell Transplantation for Fanconi Anemia

University of Minnesota (UMN) logo

University of Minnesota (UMN)

Status and phase

Phase 2
Phase 1


Fanconi Anemia


Procedure: Hematopoietic Stem Cell Transplant
Drug: Cyclophosphamide, Fludarabine
Procedure: Thymic Shielding During Radiation
Procedure: Total Body Irradiation

Study type


Funder types



MT2003-18 (Other Identifier)

Details and patient eligibility


The purpose of this study is to determine whether thymic shielding during total body irradiation can be given and whether it will reduce the risk of infections in Fanconi Anemia patients undergoing alternate donor (not a matched sibling) stem cell transplants.

Full description

All subjects will be given the same treatment regimen of total body irradiation (TBI), Fludarabine, Cyclophosphamide, and anti-thymocyte globulin (ATG), followed by an alternate donor stem cell transplant. Since this treatment regimen has been given before, without thymic shielding, we will compare the outcomes of these patients with the historical data from subjects who did not receive thymic shielding.


16 patients




1 day to 18 years old


No Healthy Volunteers

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)

Trial design

Primary purpose




Interventional model

Single Group Assignment


None (Open label)

16 participants in 1 patient group

HSCT Patients
Experimental group
Patients who received total body irradiation (450 cGy [centigray]) with thymic shielding prior to chemotherapy regimen and Hematopoietic Stem Cell Transplant (HSCT)
Procedure: Total Body Irradiation
Procedure: Thymic Shielding During Radiation
Drug: Cyclophosphamide, Fludarabine
Procedure: Hematopoietic Stem Cell Transplant

Trial contacts and locations



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