Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)

Conditions

• Diamond Blackfan Anemia

Eligibility Criteria

Sex

ALL

Age

3 Years - 30 Years

Healthy Volunteers

Not accepted

Interventions

• Mobilization Regimen — DRUG
  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.

Study Details

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.

Key Dates

Start date

Jun 1, 2026

Status verified

Apr 2026

Primary completion

Oct 1, 2026

Completion

Apr 1, 2027

Study Design

Enrollment

10 participants (estimated)

Primary Outcome Measure

Feasibility of collecting 5-30 CD34+ cells/µL in patients ages 3 to 30 years with Diamond Blackfan anemia syndrome [ Time Frame: 2 weeks ]

Central Contacts

• Maryam Hussain, MPH
  516-562-1505
  [email protected]
• Eva Atsidaftos, MPH
  [email protected]

Locations (1)

Find similar trials in New Hyde Park, NY

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