Fanconi Anemia Transplant Lacking Genotypically Identical Donor

Status: Recruiting
Phase: Phase 2
Diagnosis: Pediatric Hematology/Blood Related, Pediatric Hematopoetic Stem Cell Transplant (HSCT)
NCT ID: NCT00850317 (View complete trial on
DFCI Protocol ID: 08-377


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.


Conducting Institutions:
Dana-Farber Cancer Institute, Children's Hospital Boston

Overall PI:
David Williams, MD, Dana-Farber Cancer Institute

Site-responsible Investigators:

Dana-Farber Cancer Institute: Childrens Hospital Pediatric Clinical Translation Investigation Program CTIP,

Eligibility Criteria

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
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