Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

• Register: ClinicalTrials.gov
• Last refreshed on: 5 February 2024
• Main ID: NCT02162420
• Date of registration: 10/06/2014
• Prospective Registration: Yes
• Primary sponsor: Masonic Cancer Center, University of Minnesota
• Public title: Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
• Scientific title: Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
• Date of first enrolment: January 10, 2015
• Target sample size: 50
• Recruitment status: Recruiting
• URL: https://clinicaltrials.gov/ct2/show/NCT02162420
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: N/A

Countries of recruitment

United States

Contacts

• Name: Timothy Krepski

• Name: Timothy Krepski

• Name: Jakub Tolar, MD
• Affiliation: University of Minnesota

Key inclusion & exclusion 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



Age minimum: 0 Years
Age maximum: 70 Years
Gender: All

Health Condition(s) or Problem(s) studied

Dyskeratosis Congenita

Aplastic Anemia

Intervention(s)

Drug: Fludarabine

Biological: Stem Cell Transplant

Drug: Anti-thymocyte globulin

Drug: Alemtuzumab

Drug: Cyclophosphamide

Radiation: Total Body Irradiation

Primary Outcome(s)

Incidence of platelet engraftment [Time Frame: 1 year]

Incidence of neutrophil engraftment [Time Frame: Day 42]

Secondary Outcome(s)

Incidence of chronic graft-versus-host disease [Time Frame: 6 Months]

Incidence of chronic graft-versus-host disease [Time Frame: 1 Year]

Incidence of acute graft-versus-host disease [Time Frame: Day 100]

Incidence of secondary malignancies [Time Frame: 1 Year]

Incidence of regimen related mortality [Time Frame: Day 100]

Secondary ID(s)

2013OC127

MT2013-34C

Source(s) of Monetary Support

Please refer to primary and secondary sponsors