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Fanconi Anemia Transplant Lacking Genotypically Identical Donor

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified February 2009 by Boston Children’s Hospital.
Recruitment status was:  Not yet recruiting
Dana-Farber Cancer Institute
Information provided by:
Boston Children’s Hospital Identifier:
First received: February 24, 2009
Last updated: NA
Last verified: February 2009
History: No changes posted
A research study for patients with Fanconi Anemia whose bone marrow has changed and now failed, giving rise to a pre-leukemia or leukemia. This study is a Phase II clinical trial in which patients will undergo allogenic transplant of stem cells, meaning they will receive bone marrow cells from a healthy donor. The purpose of this study is to see if transplant course of treatment will lower the risk of graft vs. host disease.

Condition Intervention Phase
Fanconi Anemia
Device: Miltenyi CliniMACs device
Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Multicenter Phase II Trial-Hematopoietic Stem Cell Transplantation for Treatment of Patients With FA Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine

Resource links provided by NLM:

Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • the incidence and quality of engraftment and hematopoietic reconstitution, the incidence of early transplant related mortality, the incidence and severity of acute GvHD and chronic GVHD. [ Time Frame: 2 Years ]

Secondary Outcome Measures:
  • The occurrence of severe post transplant regimen-related severe morbidity (grade III/IV toxicity) and/or mortality [ Time Frame: 2 years ]

Estimated Enrollment: 25
Study Start Date: April 2009
Estimated Primary Completion Date: April 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Treatment
Reduced-intensity transplant with non-TBI containing regimen for Fanconi ANemia
Device: Miltenyi CliniMACs device
CD34 selection


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Diagnosis: Patients must have a diagnosis of Fanconi anemia (confirmed by mitomycin C or diepoxybutane [DEB] chromosomal breakage testing at an approved laboratory)
  • Hematologic Diagnosis and Status: Patients must have one of the following hematologic diagnoses:

    1. Severe Aplastic Anemia (SAA), or Severe Isolated Single lineage

      Cytopenia with bone marrow cellularity of < 25% 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
    2. Myelodysplatic Syndrome (MDS) (Appendix 1: MDS Classification). MDS at any stage, based on either one of the following classifications:

      • WHO Classification
      • Refractory anemia and transfusion dependence
      • Any of other stages
      • IPSS Classification
      • Low risk (score 0) and transfusion dependence
      • Any other risk groups Score > 0.5
    3. Acute Myelogenous Leukemia: Patients with acute leukemia are included in this trial in remission, refractory or relapsed disease

Exclusion Criteria:

  • Active CNS leukemic involvement
  • Female patients who are pregnant or breast-feeding
  • Active uncontrolled viral, bacterial or fungal infection
  • Patient seropositive for HIV-I/II; HTLV -I/II
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00850317

United States, Massachusetts
Dana-Farber Cancer Institute Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Amber Smith    617-355-3748   
Contact: Deborah Chirnomas, M.D.    617-632-6798   
Principal Investigator: David A Williams, M.D.         
Sub-Investigator: Deborah Chirnomas, M.D.         
Sponsors and Collaborators
Boston Children’s Hospital
Dana-Farber Cancer Institute
Principal Investigator: David A Williams, MD Boston Children’s Hospital
  More Information

Responsible Party: David A. Williams, MD, Children's Hospital Boston and Dana Farber Cancer Institute Identifier: NCT00850317     History of Changes
Other Study ID Numbers: 08-377
Study First Received: February 24, 2009
Last Updated: February 24, 2009

Keywords provided by Boston Children’s Hospital:
Fanconi Anemia
Stem Cell Transplant

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors processed this record on March 24, 2017