Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
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ClinicalTrials.gov Identifier: NCT01659606 |
Recruitment Status :
Recruiting
First Posted : August 8, 2012
Last Update Posted : April 29, 2022
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Condition or disease | Intervention/treatment | Phase |
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Dyskeratosis Congenita Hoyeraal Hreidarsson Syndrome Revesz Syndrome Aplastic Anemia | Biological: alemtuzumab Drug: Fludarabine Drug: Cyclosporins Drug: Mycophenolate mofetil Drug: Tacrolimus | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 40 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease |
Study Start Date : | July 2012 |
Estimated Primary Completion Date : | December 2022 |
Estimated Study Completion Date : | December 2034 |

Arm | Intervention/treatment |
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Experimental: alemtuzumab/fludarabine conditioning
alemtuzumab/fludarabine conditioning; calcineurin-inhibitor/mycophenolate mofetil GVHD prophylaxis
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Biological: alemtuzumab
Conditioning: alemtuzumab 0.2 mg/kg/dose IV/SC x 5 doses
Other Name: Campath-1H Drug: Fludarabine fludarabine 30 mg/m2/dose IV x 6 doses
Other Name: Fludara Drug: Cyclosporins Other Names:
Drug: Mycophenolate mofetil Other Name: Cellcept Drug: Tacrolimus Other Names:
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- Primary engraftment [ Time Frame: Up to day +100 post-BMT ]
- Survival to day+100 post-BMT [ Time Frame: Up to day+100 post-BMT ]
- Viral reactivation and infection [ Time Frame: Up to day +100 post-BMT ]Number of participants with DNA virus (cytomegalovirus, Epstein Barr virus, or adenovirus) reactivation/infection detected by PCR screening will be reported.
- Treatment related adverse events as assessed by CTCAE version 4.0 [ Time Frame: Up to 1 year post-BMT ]
- Secondary graft failure [ Time Frame: Up to 15 years post-BMT ]
- Acute and chronic graft-versus-host disease (GVHD) [ 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 ]Number of participants with quantitative defects in lymphocyte subset numbers following BMT
- Changes in pulmonary function as assessed by pulmonary function testing [ Time Frame: Up to 15 years post-BMT ]
- Secondary malignancies [ Time Frame: Up to 15 years post-BMT ]Number of patients with malignancies following BMT
- Long-term survival [ Time Frame: Up to 15 years post-BMT ]

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Ages Eligible for Study: | 30 Days to 65 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
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 dependence
- 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, ACD, NAF1, STN1, or ZCCHC8, 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 examination.
- 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, mycophenolate mofetil or both cyclosporine and tacrolimus.
- Positive patient anti-donor HLA antibody, which is deemed clinically significant.
- Prior allogeneic marrow or stem cell transplantation.
- Prior solid organ transplantation.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01659606
Contact: Suneet Agarwal, MD, PHD | 617-919-7579 | suneet.agarwal@childrens.harvard.edu |
United States, California | |
Children's Hospital Los Angeles | Recruiting |
Los Angeles, California, United States, 90027 | |
Contact: Kimberly Arieli 323-361-5744 karieli@chla.usc.edu | |
Principal Investigator: Paibel Aguayo-Hiraldo, MD | |
United States, Illinois | |
University of Chicago | Recruiting |
Chicago, Illinois, United States, 60637 | |
Contact: Shelby Gruntorad, MS, CCRP 773-702-6554 sgruntorad@peds.bsd.uchicago.edu | |
Principal Investigator: James LaBelle, MD, PHD | |
United States, Massachusetts | |
Massachusetts General Hospital | Recruiting |
Boston, Massachusetts, United States, 02114 | |
Contact: Lindsey Perry, RN 617-724-2638 lindsey.perry@mgh.harvard.edu | |
Principal Investigator: Yi-Bin Chen, MD, PHD | |
Boston Children's Hospital (pediatric patients) | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Suneet Agarwal, MD, PHD 617-919-7579 suneet.agarwal@childrens.harvard.edu | |
Contact: Leslie Lehmann, MD leslie_lehmann@dfci.harvard.edu | |
Principal Investigator: Suneet Agarwal, MD, PHD | |
Sub-Investigator: Leslie Lehmann, MD | |
Dana-Farber Cancer Institute (adult patients) | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Suneet Agarwal, MD, PHD suneet.agarwal@childrens.harvard.edu | |
Contact: Joseph Antin, MD Joseph_Antin@dfci.harvard.edu | |
Principal Investigator: Suneet Agarwal, MD, PHD | |
Sub-Investigator: Joseph Antin, MD | |
United States, Minnesota | |
Mayo Clinic | Recruiting |
Rochester, Minnesota, United States, 55905 | |
Contact: Jenn Hull 507-422-4820 hull.jennifer2@mayo.edu | |
Principal Investigator: William J. Hogan, M.B.,B.Ch. | |
United States, Missouri | |
Children's Mercy Hospital Kansas City | Recruiting |
Kansas City, Missouri, United States, 64108 | |
Contact: Erin Hall, MD 816-302-6808 emhall@cmh.edu | |
Principal Investigator: Erin Hall, MD | |
United States, New Jersey | |
Hackensack University Medical Center | Recruiting |
Hackensack, New Jersey, United States, 07601 | |
Contact: Alfred P Gillio, MD 551-996-5600 Alfred.Gillio@hackensackmeridian.org | |
Principal Investigator: Alfred P Gillio, MD | |
United States, North Carolina | |
Duke University Medical Center, Pediatric BMT | Recruiting |
Durham, North Carolina, United States, 27705 | |
Contact: Linda S. Brown, RN 919-668-1100 linda.brown@duke.edu | |
Principal Investigator: Vinod K. Prasad, MD, FRCP | |
United States, Ohio | |
Cincinnati Children's Hospital Medical Center | Recruiting |
Cincinnati, Ohio, United States, 45229 | |
Contact: Kasiani Myers, MD Kasiani.Myers@cchmc.org | |
Principal Investigator: Kasiani Myers, MD | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | Recruiting |
Philadelphia, Pennsylvania, United States, 19104 | |
Contact: Barb McGlynn 215-590-1303 MCGLYNN@email.chop.edu | |
Principal Investigator: Tim Olson, MD, PHD | |
United States, Texas | |
Baylor College of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
Contact: Ghadir Sasa, MD 832-824-4524 gssasa@txch.org | |
Principal Investigator: Ghadir Sasa, MD | |
United States, Washington | |
Fred Hutchinson Cancer Research Center/University of Washington Cancer Consortium | Recruiting |
Seattle, Washington, United States, 98109 | |
Contact: Lauri Burroughs, MD 206-667-2396 lburroug@fhcrc.org | |
Principal Investigator: Lauri Burroughs, MD | |
United States, Wisconsin | |
University of Wisconsin Hospital and Clinics, American Family Children's Hospital | Recruiting |
Madison, Wisconsin, United States, 53792 | |
Contact: Jenny Weiland 608-890-8070 jlweiland@pediatrics.wisc.edu | |
Contact: Peds Hem Onc Main Office 608-263-6200 PedsHemOncResearch@lists.wisc.edu | |
Principal Investigator: Inga Hofmann, MD | |
Norway | |
Oslo University Hospital | Recruiting |
Oslo, Norway | |
Contact: Jochen Büchner, MD, PHD +47 2307 4560 jocbuc@ous-hf.no | |
Principal Investigator: Jochen Büchner, MD, PHD | |
Sweden | |
Karolinska University Hospital | Recruiting |
Stockholm, Sweden | |
Contact: Mikael Sundin, MD, PHD +46 8 585 848 43 mikael.c.sundin@sll.se | |
Principal Investigator: Mikael Sundin, MD, PHD |
Principal Investigator: | Suneet Agarwal, MD, PHD | Boston Children's Hospital |
Responsible Party: | Suneet Agarwal, Associate Professor of Pediatrics, Boston Children's Hospital |
ClinicalTrials.gov Identifier: | NCT01659606 |
Other Study ID Numbers: |
12-950 IRB-P00003466 ( Other Identifier: Boston Children's Hospital ) |
First Posted: | August 8, 2012 Key Record Dates |
Last Update Posted: | April 29, 2022 |
Last Verified: | April 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
dyskeratosis congenita bone marrow failure aplastic anemia bone marrow transplantation |
reduced intensity conditioning campath fludarabine telomere |
Anemia, Aplastic Dyskeratosis Congenita Syndrome Disease Pathologic Processes Anemia Hematologic Diseases Bone Marrow Failure Disorders Bone Marrow Diseases Congenital Bone Marrow Failure Syndromes Skin Abnormalities Congenital Abnormalities Genetic Diseases, X-Linked Genetic Diseases, Inborn Skin Diseases, Genetic |
Skin Diseases Cyclosporine Mycophenolic Acid Fludarabine Alemtuzumab Tacrolimus Cyclosporins Antineoplastic Agents Molecular Mechanisms of Pharmacological Action Immunosuppressive Agents Immunologic Factors Physiological Effects of Drugs Calcineurin Inhibitors Enzyme Inhibitors Antifungal Agents |