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Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
Sponsor: Northwell Health
Summary
Gene therapy is a new possible treatment for the anemia of DBAS. Gene therapy will soon be available for patients with RPS19-mutated DBAS. This involves inserting the corrected RPS19 gene into the cells, leading to correction of the anemia. The application of gene therapy requires sufficient numbers of stem cells on which the correction can be performed. Stem cells must be mobilized (stimulated to move) from the bone marrow to the peripheral blood and then collected (also called 'harvested'). It is not known if patients with DBAS can mobilize enough stem cells into the peripheral blood to allow for the harvesting of sufficient numbers to permit genetic manipulation. It is important to demonstrate the ability to harvest an adequate number of stem cells before gene therapy can be tried in patients with DBAS. The purpose of this study is to determine if mobilization of stem cells from the bone marrow in patients with DBAS is enough to obtain the numbers of peripheral blood stem cells necessary for effective gene therapy. An actual harvest will not be done.
Official title: Mobilization of CD34+ Peripheral Blood Stem Cells With Filgrastim (Granulocyte-colony Stimulating Factor) and Plerixafor From Patients With Diamond Blackfan Anemia Syndrome
Key Details
Gender
All
Age Range
3 Years - 30 Years
Study Type
OBSERVATIONAL
Enrollment
10
Start Date
2025-10-01
Completion Date
2027-04-01
Last Updated
2025-09-22
Healthy Volunteers
No
Conditions
Interventions
Mobilization Regimen
This study will utilize a standard mobilization regimen that is used for peripheral blood stem cell mobilization in patients with a variety of underlying conditions. Upon study initiation, participants will undergo a peripheral blood draw and bone marrow aspiration and biopsy. They will then begin the following mobilization regimen: 1. Granulocyte-colony stimulating factor (G-CSF; filgrastim) dosed at 10mcg/kg/day administered subcutaneously in the morning for 5-7 days 2. Plerixafor dosed at 0.24mg/kg/day administered subcutaneously in the evening for 1-4 days Participants will undergo daily blood draws until criteria for study completion is achieved.
Locations (1)
Cohen Children's Medical Center
New Hyde Park, New York, United States