Expired Study
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Memphis, Tennessee 38105


Malignant infantile osteopetrosis (MIOP) is a rare fatal genetic disorder that is characterized by the bone's inability to regulate remodeling. The only curative therapy is hematopoietic stem cell transplantation. Stem cells provided from an HLA identical matched sibling donor is the standard of care, but not feasible for the majority of patients. In addition, due to the potentially rapid progression of this disease, the time to identify a suitable HLA matched unrelated donor is not optimal. Therefore this study is designed to test the hypothesis that children with osteopetrosis can properly engraft hematopoietic stem cells that are donated from a partially matched parental donor, or "haploidentical" stem cell donor that are processed on the investigational device, CliniMACS selection system.

Study summary:

The primary objective of this trial will be answered strictly by those patients enrolled who receive a haploidentical stem cell donor graft. Patients with a matched sibling donor will be offered participation in this clinical trial and will receive a standard myeloablative conditioning regimen followed by the infusion of an unmanipulated bone marrow graft. However, data from these transplant recipients will be reported in a descriptive manner only. Secondary Objectives in this trial include the following: - To describe the outcome of children with MIOP who receive hematopoietic stem cells from a matched sibling donor or a haploidentical donor utilizing a uniform approach one year from transplant - To estimate the fraction of children with MIOP who have a genetic defect correlating to the osteopetrosis phenotype - To assess carrier-state of the genetic mutation in parents with an affected child - To assess carrier-state of the genetic mutation in siblings of affected children - To estimate the effect of age at the time of hematopoietic stem cell transplantation on the overall outcome of children with MIOP - To describe the kinetics of select cytokine expression before and after transplantation


Inclusion Criteria: - Clinical diagnosis of malignant osteopetrosis as documented by bone marrow biopsy and radiographic imaging - A suitable hematopoietic stem cell donor is available Exclusion Criteria: - Participant has the Carbonic Anhydrase II (CAII) deficiency osteopetrosis variant - Symptomatic cardiac disease or evidence of significant cardiac dysfunction by ECHO (shortening fraction <30%) - Creatinine clearance ≤ 40ml/min/1.73m^2 - Bilirubin ≥ 3mg/dL - SGPT ≥ 500 U/L - Evidence of current severe infection which would preclude ablative chemotherapy or a successful transplantation - Karnofsky or Lansky score < 70 noting expected abnormalities

Study is Available At:

Original ID:




Secondary ID:

Study Acronym:

Brief Title:

Stem Cell Transplantation for Children Affected With Osteopetrosis

Official Title:

Allogeneic Hematopoietic Stem Cell Transplantation for Children Affected With Malignant Osteopetrosis: A Pilot Study

Overall Status:


Study Phase:




Minimum Age:


Maximum Age:


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

St. Jude Children's Research Hospital

Oversight Authority:

United States: Food and Drug Administration

Reasons Why Stopped:

Study Type:


Study Design:

Allocation: Non-Randomized, Endpoint Classificati

Number of Arms:


Number of Groups:


Total Enrollment:


Enrollment Type:


Overall Contact Information

Official Name:Kimberly A Kasow, DO
Principal Investigator
St. Jude Children's Research Hospital

Study Dates

Start Date:July 2004
Completion Date:February 2009
Completion Type:Actual
Primary Completion Date:February 2009
Primary Completion Type:Actual
Verification Date:January 2011
Last Changed Date:January 7, 2011
First Received Date:September 1, 2005

Study Outcomes

Outcome Type:Primary Outcome
Measure:To determine the feasibility of engraftment by 100 days after transplantation for children with osteopetrosis who receive a haploidentical hematopoietic stem cell graft.
Time Frame:July 2009
Safety Issues:True

Study Interventions

Intervention Type:Procedure
Name:Stem Cell Transplantation
Description:An infusion of HLA partially matched family member donor stem cells processed through the use of the investigational Miltenyi Biotec CliniMACS device.
Arm Name:1
Other Name:Haploidentical stem cell transplant
Intervention Type:Device
Name:Miltenyi Biotec CliniMACS
Description:Stem cell selection device
Arm Name:1
Other Name:T-cell depletion
Intervention Type:Drug
Name:Systemic chemotherapy and antibodies
Description:Haploidentical stem cell transplant recipients will receive a reduced intensity conditioning regimen consisting of OKT-3, Fludarabine, Thiotepa , and Melphalan followed by an infusion of a T-cell depleted donor stem cell product. Rituximab will be administered within 24 hours of the infusion in an effort to prevent PTLPD. In addition to T-cell depletion of the donor product, cyclosporine will be provided as prophylaxis for GVHD. Recipients of a matched sibling donor product will receive a my
Arm Name:1
Other Name:Transplantation for Osteopetrosis

Study Arms

Study Arm Type:Other
Arm Name:1

Study Agencies

Agency Class:Other
Agency Type:Lead Sponsor
Agency Name:St. Jude Children's Research Hospital

Sample and Retention Information

There are no available Sample and Retention Information

Study References

There are no available Study References

Data Source: ClinicalTrials.gov

Date Processed: November 18, 2019

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