Status
Conditions
Treatments
About
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.
Full description
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
Enrollment
Sex
Volunteers
Inclusion criteria
Exclusion criteria
Primary purpose
Allocation
Interventional model
Masking
15 participants in 1 patient group
Loading...
Data sourced from clinicaltrials.gov
Clinical trials
Research sites
Resources
Legal