Active, not recruitingPhase 2
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Key facts
- Who runs it
- Boston Children's Hospital
- Where
- Boston, Chicago, Cincinnati, Hackensack, Houston, Kansas City, Madison, Philadelphia, and Seattle, United StatesSee the 11 sitesAlso in 2 other countries, 2 sites
- Trial code
- Status
- Active, not recruiting
- Phase
- Phase 2
- People taking part
- 40 people, planned
- Started
- Jul 2012
- Expected to end
- Dec 2034
- Type of study
- Interventional
- Treatments tested
- alemtuzumab
- Fludarabine
- Cyclosporins
- Mycophenolate mofetil
- Tacrolimus
- Record updated
- 27 March 2026
Who can take part
- Age
- 30 days to 65 years
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
Show all 17 criteriaShow less
Who can take part
- 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
Who cannot take part
- Positive patient anti-donor HLA antibody, which is deemed clinically significant
- Prior allogeneic marrow or stem cell transplantation
- Prior solid organ transplantation
- Uncontrolled bacterial, viral or fungal infections
- Positive test for the human immunodeficiency virus (HIV)
- Known severe or life-threatening allergy or intolerance to fludarabine, alemtuzumab, mycophenolate mofetil or both cyclosporine and tacrolimus
- Clonal cytogenetic abnormalities associated with MDS or AML on bone marrow examination
- Karnofsky/Lansky performance status < 40
- Pregnancy or breastfeeding
Where in United States
Also in 2 other countries, 2 sites
- Boston Children's Hospital (pediatric patients)Boston, United StatesNo longer taking part
- Dana-Farber Cancer Institute (adult patients)Boston, United StatesNo longer taking part
- Massachusetts General HospitalBoston, United StatesNo longer taking part
- University of ChicagoChicago, United StatesNo longer taking part
- Cincinnati Children's Hospital Medical CenterCincinnati, United StatesNo longer taking part
- Hackensack University Medical CenterHackensack, United StatesNo longer taking part
- Baylor College of MedicineHouston, United StatesNo longer taking part
- Children's Mercy Hospital, Kansas CityKansas City, United StatesNo longer taking part
- University of Wisconsin Hospital and ClinicsMadison, United StatesNo longer taking part
- Children's Hospital of PhiladelphiaPhiladelphia, United StatesNo longer taking part
- Fred Hutch/University of Washington/Seattle Children's Cancer ConsortiumSeattle, United StatesNo longer taking part
About the trial
What the trial wants to find out
Dyskeratosis congenita is a disease that affects numerous parts of the body, most typically causing failure of the blood system. Lung disease, liver disease and cancer are other frequent causes of illness and death. Bone marrow transplantation (BMT) can cure the blood system but can make the lung and liver disease and risk of cancer worse, because of DNA damaging agents such as alkylators and radiation that are typically used in the procedure. Based on the biology of DC, we hypothesize that it may be possible to avoid these DNA damaging agents in patients with DC, and still have a successful BMT. In this protocol we will test whether a regimen that avoids DNA alkylators and radiation can permit successful BMT without compromising survival in patients with DC.
The group in the trial
- alemtuzumab/fludarabine conditioningTreatment being tested
alemtuzumab/fludarabine conditioning; calcineurin-inhibitor/mycophenolate mofetil GVHD prophylaxis
Treatment: alemtuzumab, Fludarabine, Cyclosporins, Mycophenolate mofetil, and Tacrolimus
Data and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease
- Record updated
- 27 March 2026