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Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified May 2012 by Tehran University of Medical Sciences.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
Tehran University of Medical Sciences Identifier:
First received: March 13, 2010
Last updated: May 31, 2012
Last verified: May 2012
The purpose of this study is to evaluate the efficacy and side effects of donor hematopoietic cells using chemotherapy regimen without total-body irradiation in children undergoing a hematopoietic stem cell transplant for Malignant infantile osteopetrosis. The blood stem cells will be derived from either related donor or unrelated umbilical cord blood or haploidentical donor.

Condition Intervention Phase
Drug: Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen)
Procedure: Stem Cell Transplantation
Drug: Cyclosporin, Methotrexate (GVHD prophylaxis)
Phase 2
Phase 3

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis

Resource links provided by NLM:

Further study details as provided by Tehran University of Medical Sciences:

Primary Outcome Measures:
  • Overall Survival and Progressive Free Survival in patient with infantile Osteopetrosis who receive allogeneic HSCT [ Time Frame: 1 year ]

Secondary Outcome Measures:
  • One year overall survival after allogeneic HSCT [ Time Frame: 1 year ]
  • One year Progressive Free Survival after allogeneic HSCT [ Time Frame: 1 year ]
  • Transplantation Related Mortality (TRM) after allogeneic HSCT [ Time Frame: 1 year ]
  • Acute and chronic GVHD rate after allogeneic HSCT [ Time Frame: 1 year ]

Estimated Enrollment: 10
Study Start Date: September 2009
Estimated Study Completion Date: December 2012
Estimated Primary Completion Date: November 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Intervention Drug: Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen)

For sibling full match:

  • Busulfan 16 mg/kg >5year - 20 mg/kg <5year po
  • Cyclophosphamide 200 mg/kg iv

For other related full match, sibling or other related with one antigen mismatch and umbilical cord blood:

  • Busulfan 16 mg/kg >5year - 20 mg/kg <5year po
  • Cyclophosphamide 200 mg/kg iv
  • ATG rabbit (Thymoglobulin) 10 mg/kg or ATG horse (Atgam) 40 mg/kg

For haploidentical:

  • Busulfan 16 mg/kg >5year - 20 mg/kg <5year po
  • Cyclophosphamide 200 mg/kg iv
  • Fludarabine 160 mg/m^2
Other Name: Systemic chemotherapy
Procedure: Stem Cell Transplantation

Patients undergoing Hematopoietic Stem Cell Transplantation from one of below source:

  1. Sibling full match
  2. Other related full match
  3. Sibling or other related with 1 mismatch antigen
  4. Cord Blood
  5. Haploidentical
Other Name: HSCT
Drug: Cyclosporin, Methotrexate (GVHD prophylaxis)
  • Cyclosporin A 1.5 mg/kg/day iv from -2, then 3 mg/kg/day iv (from +7 in PBSCT and +11 in BMT or UCBT) then 9 mg/kg/day po
  • 10 mg/m^2 iv day +1 then 6 mg/m^ iv day +3 and +6 (Not for UCBT)
Other Name: Graft-versus-host disease (GVHD) prophylaxis


Ages Eligible for Study:   up to 5 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Diagnosis of Osteopetrosis confirm by bone biopsy and radiographic imaging
  • Age up to 5 year old

Exclusion Criteria:

  • Carbonic Anhydrase II (CAII) deficiency osteopetrosis variant
  • Creatinine clearance ≤ 40ml/min/1.73m^2 or RTA
  • Bilirubin ≥ 3mg/dL
  • SGPT ≥ 500 U/L
  • Current severe infection
  • Evidence of CNS involvement
  • Morbidity such as blindness or deafness
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01087398

Contact: Amir Ali Hamidieh, MD 84902645 ext +98-21

Iran, Islamic Republic of
Hematology-Oncology & SCT Research Center Recruiting
Tehran, Iran, Islamic Republic of, 14114
Contact: Amir Ali Hamidieh, MD    84902645 ext +98-21   
Sub-Investigator: Ardeshir Ghavamzadeh, MD         
Sub-Investigator: Mahdi Jalili, MD         
Sponsors and Collaborators
Tehran University of Medical Sciences
Principal Investigator: Amir Ali Hamidieh, MD Hematology-Oncology and SCT Research Center
  More Information

Additional Information:
Responsible Party: Tehran University of Medical Sciences Identifier: NCT01087398     History of Changes
Other Study ID Numbers: HORCSCT-0905
Study First Received: March 13, 2010
Last Updated: May 31, 2012

Keywords provided by Tehran University of Medical Sciences:

Additional relevant MeSH terms:
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Fludarabine phosphate
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
Abortifacient Agents, Nonsteroidal
Abortifacient Agents
Reproductive Control Agents
Dermatologic Agents
Enzyme Inhibitors
Folic Acid Antagonists processed this record on May 22, 2017