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Dyskeratosis CongenitaNCT02162420

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

A study testing Alemtuzumab, Fludarabine and Cyclophosphamide in people with Dyskeratosis Congenita and Aplastic Anemia, run by Masonic Cancer Center, University of Minnesota at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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… Read more about this study

Who is it for?
Ages 0 to 70 years
Conditions the study is for
Dyskeratosis Congenita, Aplastic Anemia
What is being tested?
Alemtuzumab, Fludarabine and Cyclophosphamide
Could I receive a placebo?
No, everyone receives an active treatment
How many people
61 participants
Where
1 siteUnited States
Study dates
10 Jan 2015to 11 Mar 2025
Phase
Interventional
Are there results?
Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 0 to 70 years
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • 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
Show all 33Show fewer
  • 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

Who cannot join

  • 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

Trial locations and contacts

1 site in 1 country.

United States1 site

  • University of Minnesota Medical Center, Fairview

    Minneapolis, Minnesota, 55455

Other trials in United States

About this study

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.

Being tested
Alemtuzumab, Fludarabine, Cyclophosphamide, Total Body Irradiation, Stem Cell Transplant
Keywords
severe aplastic anemia, Hematopoietic Stem Cell Transplant
Medical subject headings
Dyskeratosis Congenita, Anemia, Aplastic

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • AlemtuzumabDrug

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

  • FludarabineDrug

    Also called Fludara

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

  • CyclophosphamideDrug

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

  • Total Body IrradiationRadiation

    Also called TBI

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

  • Stem Cell TransplantBiological

    Also called HSCT

    Stem cell transplant on day 0.

  • Anti-thymocyte globulinDrug

    Also called Rabbit ATG

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

Study groups in NCT02162420
Study groupRoleWhat they receive
Arm A Dyskeratosis Congenita (DKC) (non-haploidentical donor)ExperimentalFludarabine based preparative regimen, including alemtuzumab, cyclophosphamide, fludarabine, followed by stem cell transplant for the treatment of dyskeratosis congenita.
Receives: Drug: Alemtuzumab; Drug: Fludarabine; Drug: Cyclophosphamide; Biological: Stem Cell Transplant
Arm B: Severe Aplastic Anemia (SAA ) (non-matched related, non-haploidentical donor)ExperimentalFludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.
Receives: Drug: Alemtuzumab; Drug: Fludarabine; Drug: Cyclophosphamide; Radiation: Total Body Irradiation; Biological: Stem Cell Transplant; Drug: Anti-thymocyte globulin
Arm C: Severe Aplastic Anemia (matched related donor)ExperimentalFludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.
Receives: Drug: Alemtuzumab; Drug: Fludarabine; Drug: Cyclophosphamide; Radiation: Total Body Irradiation; Biological: Stem Cell Transplant; Drug: Anti-thymocyte globulin
Arm D: Dyskeratosis Congenita (DKC), PTCy platformExperimentalFludarabine based preparative regimen, including alemtuzumab, cyclophosphamide, fludarabine, followed by stem cell transplant for the treatment of dyskeratosis congenita.
Receives: Drug: Alemtuzumab; Drug: Fludarabine; Drug: Cyclophosphamide; Biological: Stem Cell Transplant
Arm E: Severe Aplastic Anemia (SAA), PTCy platformExperimentalFludarabine based preparative regimen which includes: cyclophosphamide, fludarabine, rabbit ATG and total body irradiation. Followed by stem cell transplant.
Receives: Drug: Alemtuzumab; Drug: Fludarabine; Drug: Cyclophosphamide; Radiation: Total Body Irradiation; Biological: Stem Cell Transplant; Drug: Anti-thymocyte globulin

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Incidence of Neutrophil Engraftment

    Incidence of neutrophil engraftment by day 42.

    Measured: Day 42

  2. Incidence of Platelet Engraftment

    Incidence of platelet engraftment at 1 year

    Measured: 1 year

Secondary outcomes (5)

  1. Incidence of Regimen Related Mortality

    Incidence of regimen related mortality by day 100.

    Measured: Day 100

  2. Incidence of Acute Graft-versus-host Disease

    Incidence of acute graft-versus-host disease by day 100.

    Measured: Day 100

  3. Incidence of Chronic Graft-versus-host Disease

    Incidence of chronic graft-versus-host disease by 6 months

    Measured: 6 Months

  4. Incidence of Chronic Graft-versus-host Disease

    Incidence of chronic graft-versus-host disease by 1 year

    Measured: 1 Year

  5. Incidence of Secondary Malignancies

    Incidence of secondary malingancies

    Measured: 1 Year

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted12 Jun 2014 (estimated)
  2. Study start10 Jan 2015
  3. Primary completion8 Aug 2024
  4. Study completion11 Mar 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Treatment
Allocation
Non-randomised
Intervention model
Single group
Masking
None (open label)
Enrolment
61 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02162420
Sponsor's protocol ID
2013OC127
Other IDs
MT2013-34C
Status last verified
May 2025
First submitted
10 Jun 2014
Last updated
8 May 2025
Data monitoring committee
Yes

Questions about this trial

What is this clinical trial studying?

A study testing Alemtuzumab, Fludarabine and Cyclophosphamide in people with Dyskeratosis Congenita and Aplastic Anemia, run by Masonic Cancer Center, University of Minnesota at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 33 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 8 May 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 8 May 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Incidence of Neutrophil Engraftment (time frame: Day 42). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02162420.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 May 2025.

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