Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Dyskeratosis Congenita, Aplastic Anemia
About this trial
This is an interventional treatment trial for Dyskeratosis Congenita focused on measuring severe aplastic anemia, Hematopoietic Stem Cell Transplant
Eligibility Criteria
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
Sites / Locations
- University of Minnesota Medical Center, FairviewRecruiting
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Treatment Plan for Dyskeratosis Congenita
Treatment for Severe Aplastic Anemia
Fludarabine based preparative regimen, including alemtuzumab, cyclophosphamide, fludarabine, and total body irradiation, followed by stem cell transplant for the treatment of dyskeratosis congenita.
Fludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.