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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.
Last refreshed on: 12 December 2020
Main ID:  NCT01659606
Date of registration: 06/08/2012
Prospective Registration: Yes
Primary sponsor: Boston Children's Hospital
Public title: Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Scientific title: Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease
Date of first enrolment: July 2012
Target sample size: 40
Recruitment status: Recruiting
Study type:  Interventional
Study design:  Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).  
Phase:  Phase 2
Countries of recruitment
Norway Sweden United States
Name:     Suneet Agarwal, MD, PHD
Telephone: 617-919-7579
Name:     Suneet Agarwal, MD, PHD
Affiliation:  Boston Children's Hospital
Key inclusion & exclusion criteria

Inclusion Criteria:

- Bone marrow hypocellular for age

- Moderate or severe aplastic anemia defined by one of the following: peripheral blood
neutrophils < 0.5 x 10^9/L; platelets < 30 x 10^9/L or platelet transfusion
dependence; reticulocytes < 50 x 10^9/L in anemic patients or red cell transfusion

- Diagnosis of dyskeratosis congenita based on clinical triad of abnormalities of skin
pigmentation, nail dystrophy, oral leukoplakia; OR one of clinical triad and presence
of two or more associated features; OR a pathogenic mutation in DKC1,TERC, TERT,
NOP10, NHP2, TCAB1, TINF2, CTC1, PARN, RTEL1, or ACD as reported by a CLIA-approved
laboratory; OR age-adjusted mean telomere length < 1%ile in peripheral blood
lymphocytes as reported by a CLIA-approved laboratory; OR Hoyeraal-Hreidarsson
syndrome; OR Revesz syndrome

- Availability of a related or unrelated donor with a 7/8 or 8/8 match for HLA-A, B, C,
and DRB1.

- Patient and/or legal guardian must be able to sign informed consent.

- Donor must provide a marrow allograft.

- Diagnosis of Fanconi anemia must be excluded by mitomycin C or diepoxybutane
chromosomal breakage testing on peripheral blood at a CLIA-approved laboratory (not
required for patients with a genetic mutation consistent with DC)

- Adequate renal function with glomerular filtration rate equal to or greater than 30
ml/min/1.73 m2

Exclusion Criteria:

- Clonal cytogenetic abnormalities associated with MDS or AML on bone marrow

- Karnofsky/Lansky performance status < 40.

- Uncontrolled bacterial, viral or fungal infections.

- Positive test for the human immunodeficiency virus (HIV).

- Pregnancy or breastfeeding.

- Known severe or life-threatening allergy or intolerance to fludarabine, alemtuzumab,
cyclosporine, or mycophenolate mofetil.

- Positive patient anti-donor HLA antibody, which is deemed clinically significant.

- Prior allogeneic marrow or stem cell transplantation.

- Prior solid organ transplantation

Age minimum: N/A
Age maximum: 65 Years
Gender: All
Health Condition(s) or Problem(s) studied
Aplastic Anemia
Dyskeratosis Congenita
Hoyeraal Hreidarsson Syndrome
Revesz Syndrome
Biological: alemtuzumab
Drug: Cyclosporins
Drug: Fludarabine
Drug: Mycophenolate mofetil
Primary Outcome(s)
Primary engraftment [Time Frame: Up to day +100 post-BMT]
Secondary Outcome(s)
Acute and chronic graft-versus-host disease (GVHD) [Time Frame: Up to 15 years post-BMT]
Changes in pulmonary function as assessed by pulmonary function testing [Time Frame: Up to 15 years post-BMT]
Engraftment monitoring (chimerism) [Time Frame: Up to 15 years post-BMT]
Immune reconstitution as assessed by quantitation of lymphocyte subsets [Time Frame: Up to 15 years post-BMT]
Long-term survival [Time Frame: Up to 15 years post-BMT]
Secondary graft failure [Time Frame: Up to 15 years post-BMT]
Secondary malignancies [Time Frame: Up to 15 years post-BMT]
Survival to day+100 post-BMT [Time Frame: Up to day+100 post-BMT]
Treatment related adverse events as assessed by CTCAE version 4.0 [Time Frame: Up to 1 year post-BMT]
Viral reactivation and infection [Time Frame: Up to day +100 post-BMT]
Secondary ID(s)
Source(s) of Monetary Support
Please refer to primary and secondary sponsors
Secondary Sponsor(s)
Baylor College of Medicine
Children's Hospital Los Angeles
Children's Hospital Medical Center, Cincinnati
Children's Hospital of Philadelphia
Children's Mercy Hospital Kansas City
Dana-Farber Cancer Institute
Duke University
Fred Hutchinson Cancer Research Center/University of Washington Cancer Consortium
Hackensack Meridian Health
Karolinska University Hospital
Memorial Sloan Kettering Cancer Center
Oslo University Hospital
University of Wisconsin, Madison
Ethics review
Results available:
Date Posted:
Date Completed:
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