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

I'm interested

up to 70 Years old
This study is NOT accepting healthy volunteers
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: Fludarabine, Drug: Cyclophosphamide, Radiation: Total Body Irradiation, Biological: Stem Cell Transplant, Drug: Anti-thymocyte globulin

Dyskeratosis Congenita, Aplastic Anemia

Clinics and Surgery Center (CSC), severe aplastic anemia, Hematopoietic Stem Cell Transplant

Timothy Krepski -
Christen Ebens
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