Actively Recruiting
Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
Led by Northwell Health · Updated on 2026-04-27
10
Participants Needed
1
Research Sites
43 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of Diamond Blackfan anemia syndrome with a known gene mutation
- Male or female, aged 3 to 30 years, weighing at least 10 kg
- Enrolled in the Diamond Blackfan Anemia Registry of North America (DBAR)
- Chronically dependent on red blood cell transfusions for at least 6 months
- Performance status score of 70 or higher (Lansky scale under 16 years old or Karnofsky scale 16 years and older)
- Signed informed consent
You will not qualify if you...
- Currently receiving prednisone therapy for DBAS (except physiologic steroid replacement for adrenal insufficiency)
- History of myelodysplasia or presence of a hematopoietic clone
- Current or previous malignancy treatment
- Pregnant or breastfeeding
- Severe iron overload with liver iron concentration above 15 mg Fe/g dry liver weight
- Significant low blood counts: platelets below 100,000/mcL or neutrophils below 750/mcL
- Use of G-CSF within 3 months before enrollment
- Liver dysfunction with AST, ALT, or direct bilirubin more than 3 times the upper normal limit
- Kidney dysfunction with estimated GFR below 70 mL/min/1.73 m2
AI-Screening
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Trial Site Locations
Total: 1 location
1
Cohen Children's Medical Center
New Hyde Park, New York, United States, 11040
Actively Recruiting
Research Team
M
Maryam Hussain, MPH
CONTACT
E
Eva Atsidaftos, MPH
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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