Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

May 7, 2025 updated by: Masonic Cancer Center, University of Minnesota
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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
61

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • United States
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • University of Minnesota Medical Center, Fairview

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

1 second to 70 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: 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.
Drug: Alemtuzumab
Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.
Drug: Fludarabine
Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.
Other Names:
  • Fludara
Drug: Cyclophosphamide
Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.
Biological: Stem Cell Transplant
Stem cell transplant on day 0.
Other Names:
  • HSCT
Experimental: 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.
Drug: Alemtuzumab
Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.
Drug: Fludarabine
Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.
Other Names:
  • Fludara
Drug: Cyclophosphamide
Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.
Biological: Stem Cell Transplant
Stem cell transplant on day 0.
Other Names:
  • HSCT
Radiation: Total Body Irradiation
TBI 200 cGy as a single fraction on day -1 from transplant.
Other Names:
  • TBI
Drug: Anti-thymocyte globulin
ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.
Other Names:
  • Rabbit ATG
Experimental: 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.
Drug: Alemtuzumab
Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.
Drug: Fludarabine
Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.
Other Names:
  • Fludara
Drug: Cyclophosphamide
Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.
Biological: Stem Cell Transplant
Stem cell transplant on day 0.
Other Names:
  • HSCT
Radiation: Total Body Irradiation
TBI 200 cGy as a single fraction on day -1 from transplant.
Other Names:
  • TBI
Drug: Anti-thymocyte globulin
ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.
Other Names:
  • Rabbit ATG
Experimental: 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.
Drug: Alemtuzumab
Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.
Drug: Fludarabine
Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.
Other Names:
  • Fludara
Drug: Cyclophosphamide
Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.
Biological: Stem Cell Transplant
Stem cell transplant on day 0.
Other Names:
  • HSCT
Experimental: 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.
Drug: Alemtuzumab
Alemtuzumab 0.2 mg/kg IV over 2 hours on days -10 to -6 from transplant.
Drug: Fludarabine
Fludarabine 40 mg/m2 IV over 1 hour on days -6 to -2 from transplant.
Other Names:
  • Fludara
Drug: Cyclophosphamide
Cyclophosphamide 50 mg/kg IV over 2 hours on day -7 from transplant.
Biological: Stem Cell Transplant
Stem cell transplant on day 0.
Other Names:
  • HSCT
Radiation: Total Body Irradiation
TBI 200 cGy as a single fraction on day -1 from transplant.
Other Names:
  • TBI
Drug: Anti-thymocyte globulin
ATG (Thymoglobulin - Rabbit ) 3 mg/kg IV on days -5 to -3 from stem cell transplant.
Other Names:
  • Rabbit ATG

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Incidence of Neutrophil Engraftment
Time Frame: Day 42
Incidence of neutrophil engraftment by day 42.
Day 42
Incidence of Platelet Engraftment
Time Frame: 1 year
Incidence of platelet engraftment at 1 year
1 year

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Incidence of Regimen Related Mortality
Time Frame: Day 100
Incidence of regimen related mortality by day 100.
Day 100
Incidence of Acute Graft-versus-host Disease
Time Frame: Day 100
Incidence of acute graft-versus-host disease by day 100.
Day 100
Incidence of Chronic Graft-versus-host Disease
Time Frame: 6 Months
Incidence of chronic graft-versus-host disease by 6 months
6 Months
Incidence of Chronic Graft-versus-host Disease
Time Frame: 1 Year
Incidence of chronic graft-versus-host disease by 1 year
1 Year
Incidence of Secondary Malignancies
Time Frame: 1 Year
Incidence of secondary malingancies
1 Year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Masonic Cancer Center, University of Minnesota

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Jakub Tolar, MD, University of Minnesota

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
January 10, 2015

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
August 8, 2024

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 11, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
June 10, 2014

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 10, 2014

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
June 12, 2014

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
May 8, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 7, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
May 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 2013OC127
  • MT2013-34C (Other Identifier: University of Minnesota Blood and Marrow Transplant Program)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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