Last updated on January 2019

TBI Dose De-escalation for Fanconi Anemia


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Fanconi's Anemia
  • Age: - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

Meeting the definition of standard risk or high risk Fanconi anemia as defined in the next two sections:

  • Standard risk patients must be <18 years of age with a diagnosis of Fanconi anemia with 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 * 10^9/L
  • ANC <5 * 10^8/L
  • Hemoglobin <8 g/dL
  • Myelodysplastic syndrome (MDS) 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)
  • High risk patients must have one or more of the following high risk features:
  • Advanced MDS ( 5% blast) or acute leukemia
  • Require additional HSCT for graft failure
  • History at any time of systemic fungal or gram negative infection
  • Severe renal disease with a creatinine clearance <40 mL/min
  • Age > 18 years
  • Very high risk patients must have Advanced MDS ( 5% blast) or acute leukemia after initial hematopoietic stem cell transplant (HSCT)
  • Patients must have an appropriate source of stem cells. Patients and donors will be typed for HLA-A, B, C and DRB1 using high resolution molecular typing.
  • Adequate major organ function including:
  • Cardiac: ejection fraction >45%
  • Hepatic: bilirubin, AST or ALT, ALP <5 x normal
  • Karnofsky performance status >70% or Lansky >50 (if < 16 years of age)
  • Women of child-bearing age must be using adequate birth control and have a negative pregnancy test.
  • Written consent.

Exclusion Criteria:

  • Available HLA-genotypically identical related donor in standard risk patients.
  • Active central nervous system (CNS) leukemia at time of study enrollment.
  • History of squamous cell carcinoma of the head/neck/cervix within previous 2 years.
  • Prior radiation therapy that prevents further total body irradiation (TBI).

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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