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Stem Cell Transplantation for Fanconi Anemia

This study has been terminated.
(Treatment with thymic shielding found safe, another study started.)
ClinicalTrials.gov Identifier:
First Posted: September 14, 2005
Last Update Posted: December 9, 2009
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
Masonic Cancer Center, University of Minnesota
September 9, 2005
September 14, 2005
July 7, 2009
November 26, 2009
December 9, 2009
March 2004
December 2008   (Final data collection date for primary outcome measure)
Number of Patients Who Exhibited Hematopoietic Recovery and Engraftment [ Time Frame: Day 42 after hematopoietic cell transplant ]
incidence of hematopoietic recovery and engraftment at day 42 after HCT
Complete list of historical versions of study NCT00167206 on ClinicalTrials.gov Archive Site
  • Number of Patients Who Exhibited Secondary Graft Failure [ Time Frame: Day 100 after hematopoietic cell transplant ]
  • Number of Patients With Acute Graft Versus-Host Disease (aGVHD) [ Time Frame: Day 100 after hematopoietic cell transplant ]
  • Number of Patients With Chronic Graft Versus-Host Disease (GVHD) [ Time Frame: 1 year after hematopoietic cell transplant ]
  • Number of Patients Who Exhibited Regimen-related Toxicity (RRT) [ Time Frame: 1 year after hematopoietic cell transplant ]
  • Immune Reconstitution - Mean Value (1 Year) [ Time Frame: 1 year post-transplant. ]
  • Immune Reconstitution - Mean Value (2 Years) [ Time Frame: at 2 years after transplant ]
  • Number of Patients Alive at 1 Year [ Time Frame: 1 year after transplant ]
  • Number of Patients Alive at 2 Years [ Time Frame: 2 years after transplant ]
  • - Incidence of secondary graft failure at day 100 after HCT
  • - Incidence of acute graft-versus-host disease (GVHD) at 100 days after HCT
  • - Incidence of chronic GVHD at 1 year after HCT
  • - Incidence of regimen-related toxicity (RRT) at 1 year after HCT
  • - Immune reconstitution over the first two years after HCT
  • 2.2.6 Probability of survival at 1 and 2 years after HCT
Not Provided
Not Provided
Stem Cell Transplantation for Fanconi Anemia
A Study of Thymic Shielding in Recipients of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Stem Cell Transplantation in Patients With Fanconi Anemia
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.
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.
Phase 1
Phase 2
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Fanconi Anemia
  • Procedure: Hematopoietic Stem Cell Transplant
    Bone marrow failure may be treated by giving patients stem cells that come from someone else. This is called a stem-cell transplant. As part of the transplant process, patients receive high doses of chemotherapy and/or radiation to treat their underlying disease. As one of its effects, this treatment also kills the healthy stem cells that are already in the marrow. The transplant provides new stem cells for the patient from a healthy donor; that replace the bone marrow and allow the blood counts to recover.
    Other Name: Bone Marrow Transplant
  • Procedure: Thymic Shielding During Radiation
    protecting the thymus during total body radiation (450 cGy administered)
    Other Name: TBI
  • Procedure: Total Body Irradiation
    Six days before the stem cells are given (day -6), subjects will receive total body irradiation with thymic shielding. Thymic shielding is done by placing a piece of lead on the chest during the irradiation treatment so that the irradiation beams do not go to the thymus.
    Other Name: Radiation Therapy, Therapuetic Radiation
  • Drug: Cyclophosphamide, Fludarabine
    Day -5 through Day -2, subjects will receive a chemotherapy regimen of Fludarabine, Cyclophosphamide via central line
    Other Name: Cytoxan, Fludara
Experimental: HSCT Patients
Patients who received total body irradiation (450 cGy [centigray]) with thymic shielding prior to chemotherapy regimen and Hematopoietic Stem Cell Transplant (HSCT)
  • Procedure: Hematopoietic Stem Cell Transplant
  • Procedure: Thymic Shielding During Radiation
  • Procedure: Total Body Irradiation
  • Drug: Cyclophosphamide, Fludarabine
MacMillan ML, DeFor TE, Young JA, Dusenbery KE, Blazar BR, Slungaard A, Zierhut H, Weisdorf DJ, Wagner JE. Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood. 2015 Jun 11;125(24):3798-804. doi: 10.1182/blood-2015-02-626002. Epub 2015 Mar 30.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
December 2008
December 2008   (Final data collection date for primary outcome measure)

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)
Sexes Eligible for Study: All
up to 18 Years   (Child, Adult)
Contact information is only displayed when the study is recruiting subjects
United States
MT2003-18 ( Other Identifier: Blood and Marrow Transplantation Program )
Not Provided
Not Provided
MacMillan, Margaret L., MD, Masonic Cancer Center, University of Minnesota
Masonic Cancer Center, University of Minnesota
Not Provided
Principal Investigator: Margaret MacMillan, MD Masonic Cancer Center, University of Minnesota
Masonic Cancer Center, University of Minnesota
November 2009

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP