Allogeneic Transplantation For Severe Osteopetrosis
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ClinicalTrials.gov Identifier: NCT00775931 |
Recruitment Status :
Completed
First Posted : October 20, 2008
Results First Posted : July 31, 2019
Last Update Posted : July 31, 2019
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Condition or disease | Intervention/treatment | Phase |
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Severe Osteopetrosis | Procedure: umbilical cord blood transplantation Drug: Campath-1H Radiation: Total Lymphoid Irradiation Drug: Cyclophosphamide Drug: Busulfan Drug: Fludarabine monophosphate Procedure: marrow graft transplantation | Phase 2 Phase 3 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 7 participants |
Allocation: | Non-Randomized |
Intervention Model: | Parallel Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis |
Study Start Date : | August 2008 |
Actual Primary Completion Date : | June 2013 |
Actual Study Completion Date : | June 2013 |

Arm | Intervention/treatment |
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Active Comparator: marrow graft transplant conditioning
Pre-transplant conditioning using Campath-1H, Busulfan, Fludarabine monophosphate, and total lymphoid irradiation followed by unrelated or matched related donor marrow graft transplantation (both peripheral blood and marrow) and a second CD34 cell infusion on Day 42.
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Drug: Campath-1H
Campath-1H will be administered 0.3 mg/kg subcutaneously per day for three days starting on Day -21 through Day -19.
Other Name: Alemtuzumab Radiation: Total Lymphoid Irradiation Dose 500 cGy via anteroposterior (AP) and posteroanterior(PA) fields (250 cGy AP and 250 cGy PA).
Other Name: TLI Drug: Busulfan patients<12 kg: 1.1 mg/kg/dose IV every 6 hours for 8 doses total; patients >12 kg: 0.8 mg/kg/dose IV every 6 hours for 8 doses. on Day -8 to -7 for donor grafts-receiving patients, and on Day -9 to -6 for cord blood grafts-receiving patients.
Other Name: Busulfex Drug: Fludarabine monophosphate Fludarabine (35 mg/m2 daily for 5 days, 175 mg/m2 total) will be administered IV over 30 minutes on days -6, -5, -4, -3, and -2 for donor grafts-receiving patients only.
Other Name: Fludara Procedure: marrow graft transplantation Related donor marrow will be collected, processed and shipped according to existing protocols of the National Marrow Donor Program or other URD registry, with the goal of achieving a cell dose of ≥ 6.0 x 108 nucleated cells/kg. The proportion of cells that are CD34+ will be determined prior to the administration of the graft. This will allow a portion of the graft (2 x 106 CD34+ cells) to be frozen for a subsequent infusion on day +42.
Other Name: HSCT |
Active Comparator: cord blood transplant conditioning
Pre-transplant conditioning using Campath-1H, Busulfan and Cyclophosphamide followed by unrelated umbilical cord blood transplantation and a second smaller portion cord blood graft infusion on Day 42.
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Procedure: umbilical cord blood transplantation
Umbilical cord blood will be collected, processed and shipped according to existing protocols. 2 cord blood units will be utilized if available. The choice of units will be based on the HLA typing standards of the University of Minnesota Blood and Marrow Program. If 2 units are not available, a single unit may be used. If a single unit is used, the unit should provide at least 10 x 107 nucleated cells/kg recipient body weight.
Other Name: UCBT Drug: Campath-1H Campath-1H will be administered 0.3 mg/kg subcutaneously per day for three days starting on Day -21 through Day -19.
Other Name: Alemtuzumab Drug: Cyclophosphamide Cyclophosphamide (50 mg/kg/dose) will be given IV on day -4, -3, -2 and -1 over 2 hours. The total dose to be given over 4 days is 200 mg/kg for cord blood grafts-receiving patients only.
Other Name: Cytoxan Drug: Busulfan patients<12 kg: 1.1 mg/kg/dose IV every 6 hours for 8 doses total; patients >12 kg: 0.8 mg/kg/dose IV every 6 hours for 8 doses. on Day -8 to -7 for donor grafts-receiving patients, and on Day -9 to -6 for cord blood grafts-receiving patients.
Other Name: Busulfex |
- Number of Patients Who Achieved Donor Cell Engraftment [ Time Frame: Day 100 ]
- Transplant Related Mortality at 100 Days [ Time Frame: day 100 ]
- Transplant Related Toxicity [ Time Frame: Day 100 post transplant ]
- Incidence of Grade II - IV Acute Graft-versus-host Disease [ Time Frame: by Day 100 after transplant ]

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Ages Eligible for Study: | 1 Day to 45 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
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Patients eligible for transplantation under this protocol will be < or = 45 years of age, and will be diagnosed with severe osteopetrosis. This will be defined as having the following manifestations of the disease.
- Bones that are uniformly markedly dense based on skeletal survey
- No history that would suggest autosomal dominant inheritance
- Evidence of hematologic changes that are attributed to the underlying disease, including
- the need for ongoing transfusions, OR
- the presence of progressive anemia or thrombocytopenia, OR
- a white blood cell differential with a predominance of immature forms and evidence of extramedullary hematopoiesis, OR
- persistence of serious infectious complications that are thought to be due to the abnormal architecture of the bone that are resistant to surgical and medical interventions.
Exclusion Criteria:
- Patients >45 years of age
- Evidence of hepatic failure
- Pulmonary dysfunction sufficient to significantly increase the risk of transplant.
- Renal dysfunction with glomerular filtration rate (GFR) <30% of predicted.
- Cardiac compromise sufficient to substantially increase the risk of transplantation
- Severe, stable neurologic impairment.
- Human immunodeficiency virus (HIV) positivity.
- Pregnant or lactating females

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): NCT00775931
United States, Minnesota | |
University of MInnesota, Fairview | |
Minneapolis, Minnesota, United States, 55455 |
Principal Investigator: | Paul Orchard, MD | Masonic Cancer Center, University of Minnesota |
Responsible Party: | Masonic Cancer Center, University of Minnesota |
ClinicalTrials.gov Identifier: | NCT00775931 |
Other Study ID Numbers: |
MT2008-20 0808M42261 ( Other Identifier: Masonic Cancer Center, University of Minnesota ) |
First Posted: | October 20, 2008 Key Record Dates |
Results First Posted: | July 31, 2019 |
Last Update Posted: | July 31, 2019 |
Last Verified: | July 2019 |
osteopetrosis |
Osteopetrosis Osteosclerosis Osteochondrodysplasias Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases Cyclophosphamide Busulfan Fludarabine Fludarabine phosphate Alemtuzumab Immunosuppressive Agents |
Immunologic Factors Physiological Effects of Drugs Antirheumatic Agents Antineoplastic Agents, Alkylating Alkylating Agents Molecular Mechanisms of Pharmacological Action Antineoplastic Agents Myeloablative Agonists Antimetabolites, Antineoplastic Antimetabolites Antineoplastic Agents, Immunological |