Status:
RECRUITING
Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
Lead Sponsor:
Northwell Health
Conditions:
Diamond Blackfan Anemia
Eligibility:
All Genders
3-30 years
Brief 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 cel...
Detailed Description
Diamond Blackfan anemia syndrome (DBAS) is a rare, inherited bone marrow failure syndrome, characterized by severe anemia, birth defects and a predisposition to cancer. The majority of patients with D...
Eligibility Criteria
Inclusion
- Diamond Blackfan anemia syndrome as defined by the known criteria with a known gene mutation
- Male or female patients of all ethnic background, greater than or equal to 3 years of age and weighing at least 10 kg, and less than or equal to 30 years of age
- Enrolled in Diamond Blackfan Anemia Registry of North America (DBAR)
- Chronically red blood cell transfusion dependent for at least 6 months
- Performance scale (Lansky Play-performance Scale for Pediatric Functional Status for age \<16 years; Karnofsky Performance Scale for age ≥16 years) ≥ 70
- Must sign informed consent
Exclusion
- Receiving prednisone therapy for treatment of DBAS (this does not include patients receiving physiologic steroid replacement for adrenal insufficiency)
- Known history of myelodysplasia or presence of a hematopoietic clone
- Current malignancy or previous treatment for malignancy
- Pregnancy or breast-feeding mother
- Known history of severe iron overload as defined by a liver iron concentration (LIC) \> 15 mg Fe/ g dry liver weight
- Significant cytopenias, defined as:
- Platelet count \<100,000/mcL
- Absolute neutrophil count \<750/mCL
- Any GCSF use in the 3 months prior to enrollment
- Liver dysfunction: aspartate aminotransferase (AST), alanine aminotransferase (ALT), or direct bilirubin values \>3 x the upper limit of normal (ULN)
- Kidney dysfunction: baseline estimated glomerular filtration rate (GFR) \<70 mL/min/1.73 m2
Key Trial Info
Start Date :
October 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 1 2027
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT07186179
Start Date
October 1 2025
End Date
April 1 2027
Last Update
September 22 2025
Active Locations (1)
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1
Cohen Children's Medical Center
New Hyde Park, New York, United States, 11040