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Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis

Phase 2/Phase 3
45 Years
Open (Enrolling)
Severe Osteopetrosis

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Trial Information

Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis

This revised transplant protocol will test the following: 1) the ability to achieve
engraftment with the reduced intensity protocol and a second infusion of stem cells on day
42, 2) the mortality associated with transplant by day 100, 3) patient outcomes, based on
differential imaging and biologic evaluations prior to transplantation and at designated
points after transplantation (day 100, 6 months, 1, 2 and 5 years). Additional biologic
studies will include microarray analysis, and evaluation of blood parameters and genes that
may be important in the disease process. In older patients, studies to evaluation
osteoclast differentiation and function will also be offered.

Inclusion Criteria:

- 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.

1. Bones that are uniformly markedly dense based on skeletal survey

2. No history that would suggest autosomal dominant inheritance

3. Evidence of hematologic changes that are attributed to the underlying disease,

- 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

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

Type of Study:


Study Design:

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

Estimate the rate of donor engraftment for patients treated by hematopoietic stem cell transplantation

Outcome Time Frame:

Day 100

Safety Issue:


Principal Investigator

Paul Orchard, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Masonic Cancer Center, University of Minnesota


United States: Institutional Review Board

Study ID:




Start Date:

October 2008

Completion Date:

October 2015

Related Keywords:

  • Severe Osteopetrosis
  • osteopetrosis
  • Osteopetrosis



University of Minnesota, FairviewMinneapolis, Minnesota  55455