Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

NCT ID: NCT02162420

Last Updated: 2025-05-08

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

61 participants

Study Classification

INTERVENTIONAL

Study Start Date

2015-01-10

Study Completion Date

2025-03-11

Brief Summary

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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.

Detailed Description

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Conditions

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Dyskeratosis Congenita Aplastic Anemia

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Arm A Dyskeratosis Congenita (DKC) (non-haploidentical donor)

Fludarabine based preparative regimen, including alemtuzumab, cyclophosphamide, fludarabine, followed by stem cell transplant for the treatment of dyskeratosis congenita.

Group Type EXPERIMENTAL

Alemtuzumab

Intervention Type DRUG

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Fludarabine

Intervention Type DRUG

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Stem Cell Transplant

Intervention Type BIOLOGICAL

Stem cell transplant on day 0.

Arm B: Severe Aplastic Anemia (SAA ) (non-matched related, non-haploidentical donor)

Fludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.

Group Type EXPERIMENTAL

Alemtuzumab

Intervention Type DRUG

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Fludarabine

Intervention Type DRUG

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Total Body Irradiation

Intervention Type RADIATION

TBI 200 cGy as a single fraction on day -1 from transplant.

Stem Cell Transplant

Intervention Type BIOLOGICAL

Stem cell transplant on day 0.

Anti-thymocyte globulin

Intervention Type DRUG

ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.

Arm C: Severe Aplastic Anemia (matched related donor)

Fludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.

Group Type EXPERIMENTAL

Alemtuzumab

Intervention Type DRUG

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Fludarabine

Intervention Type DRUG

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Total Body Irradiation

Intervention Type RADIATION

TBI 200 cGy as a single fraction on day -1 from transplant.

Stem Cell Transplant

Intervention Type BIOLOGICAL

Stem cell transplant on day 0.

Anti-thymocyte globulin

Intervention Type DRUG

ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.

Arm D: Dyskeratosis Congenita (DKC), PTCy platform

Fludarabine based preparative regimen, including alemtuzumab, cyclophosphamide, fludarabine, followed by stem cell transplant for the treatment of dyskeratosis congenita.

Group Type EXPERIMENTAL

Alemtuzumab

Intervention Type DRUG

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Fludarabine

Intervention Type DRUG

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Stem Cell Transplant

Intervention Type BIOLOGICAL

Stem cell transplant on day 0.

Arm E: Severe Aplastic Anemia (SAA), PTCy platform

Fludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.

Group Type EXPERIMENTAL

Alemtuzumab

Intervention Type DRUG

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Fludarabine

Intervention Type DRUG

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Total Body Irradiation

Intervention Type RADIATION

TBI 200 cGy as a single fraction on day -1 from transplant.

Stem Cell Transplant

Intervention Type BIOLOGICAL

Stem cell transplant on day 0.

Anti-thymocyte globulin

Intervention Type DRUG

ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.

Interventions

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Alemtuzumab

Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.

Intervention Type DRUG

Fludarabine

Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.

Intervention Type DRUG

Cyclophosphamide

Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.

Intervention Type DRUG

Total Body Irradiation

TBI 200 cGy as a single fraction on day -1 from transplant.

Intervention Type RADIATION

Stem Cell Transplant

Stem cell transplant on day 0.

Intervention Type BIOLOGICAL

Anti-thymocyte globulin

ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.

Intervention Type DRUG

Other Intervention Names

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Fludara TBI HSCT Rabbit ATG

Eligibility Criteria

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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
Minimum Eligible Age

0 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Masonic Cancer Center, University of Minnesota

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Minnesota Medical Center, Fairview

Minneapolis, Minnesota, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Study Protocol and Statistical Analysis Plan

View Document

Document Type: Informed Consent Form

View Document

Other Identifiers

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MT2013-34C

Identifier Type: OTHER

Identifier Source: secondary_id

2013OC127

Identifier Type: -

Identifier Source: org_study_id

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