MT2013-34C: Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia: Standard of Care Considerations

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0 Years to 70 Years old
Inclusion Criteria:
Aged 0 - 70 years Acceptable hematopoeitic stem cell donor Dyskeratosis Congenita (DC) with evidence of BM failure defined as: requirement for red blood cell and/or platelet transfusions or requirement for G-CSF or GM-CSF or erythropoietin or refractory cytopenias having one of the following three platelets <50,000/uL or transfusion dependent absolute neutrophil count <500/uL without hematopoietic growth factor support hemoglobin <9g/uL or transfusion dependent Diagnosis of DC with a triad of mucocutaneous features: oral leukoplakia nail dystrophy abnormal reticular skin hyperpigmentation, or Diagnosis of DC with one of the following: short telomeres (under a research study) mutation in telomerase holoenzyme (DKC1, TERT, TERC, NOP10, NHP2, TCAB1) mutation in shelterin complex (TINF2) mutation in telomere-capping complex (CTC1) Severe Aplastic Anemia (SAA) primary transplant with evidence of BM failure: Refractory cytopenia defined by bone marrow cellularity <50% (with < 30% residual hematopoietic cells) Diagnosis of SAA with refractory cytopenias having one of the following three: platelets <20,000/uL or transfusion dependent absolute neutrophil count <500/uL without hematopoietic growth factor support absolute reticulocyte count <20,000/uL Severe Aplastic Anemia (SAA) requiring a 2nd transplant Graft failure as defined by blood/marrow chimerism of < 5% Early myelodysplastic features With or without clonal cytogenetic abnormalities Adequate organ function defined as: cardiac: left ventricular ejection fraction ≥ 35% with no evidence of decompensated heart failure pulmonary: DLCO ≥30% predicted, no supplemental oxygen requirement renal: Glomerular filtration rate (GFR) ≥30% predicted Voluntary written consent
Exclusion Criteria:
Acute hepatitis or evidence of moderate or severe portal fibrosis or cirrhosis on biopsy Pregnant or lactating Uncontrolled infection Prior radiation therapy (applies to SAA patients only) Diagnosis of Fanconi anemia based on DEB Diagnosis of dyskeratosis congenita with advanced MDS or acute myeloid leukemia with >30% blasts

Drug: Alemtuzumab, Drug: Anti-thymocyte globulin, Drug: Cyclophosphamide, Drug: Fludarabine, Biological: Stem Cell Transplant, Radiation: Total Body Irradiation

Dyskeratosis Congenita, Aplastic Anemia

Clinics and Surgery Center (CSC)

Timothy Krepski -
Christen Ebens
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