Clinical Trial: Stem Cell Transplantation for Children Affected With Osteopetrosis

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

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

Brief Summary: 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.

Detailed 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

Sponsor: St. Jude Children's Research Hospital

Current Primary Outcome: Engraftment [ Time Frame: 100 days post-transplant ]

To determine the need for blood or platelet transfusions and the presence of donor cells being present in the transplant recipient's bone marrow or peripheral blood by 100 day after transplantation for children with malignant infantile osteopetrosis who have received a haploidentical stem cell graft.


Original Primary Outcome: To determine the feasibility of engraftment by 100 days after transplantation for children with osteopetrosis who receive a haploidentical hematopoietic stem cell graft.

Current Secondary Outcome:

Original Secondary Outcome:

  • To study the outcome (good and bad) of stem cell transplantation in children with malignant osteopetrosis one year after transplant who receive either a matched sibling donor transplant or a haploidentical stem cell transplant.
  • To study the genetics of patients, parents and siblings of children with malignant osteopetrosis


Information By: St. Jude Children's Research Hospital

Dates:
Date Received: September 1, 2005
Date Started: July 2004
Date Completion:
Last Updated: July 26, 2012
Last Verified: January 2011