Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

  • STATUS
    Recruiting
  • End date
    Jul 24, 2024
  • participants needed
    50
  • sponsor
    Masonic Cancer Center, University of Minnesota
Updated on 24 March 2022
total body irradiation
fludarabine
cyclophosphamide
ejection fraction
glomerular filtration rate
antithymocyte globulin
cytopenia
erythropoietin
neutrophil count
blood transfusion
g-csf
alemtuzumab
platelet transfusion
aplastic anemia
severe aplastic anemia
pancytopenia
reticulocyte count
telomerase rna
nop10

Summary

Fludarabine-based preparative regimen followed by an allogeneic hematopoietic stem cell transplant using related or unrelated donor in persons 0-70 years of age diagnosed with dyskeratosis congenita or severe aplastic anemia who have bone marrow failure characterized by a requirement for red blood cell and platelet transfusions. Three different preparative regimens are included based on disease and donor type.

Details
Condition Dyskeratosis Congenita, Aplastic Anemia
Treatment anti-thymocyte globulin, cyclophosphamide, Fludarabine, Total body irradiation, alemtuzumab, Stem Cell Transplant
Clinical Study IdentifierNCT02162420
SponsorMasonic Cancer Center, University of Minnesota
Last Modified on24 March 2022

Eligibility

Yes No Not Sure

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
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