Mobilizing CD34+ stem cells in Diamond Blackfan anemia
Mobilization of CD34+ Peripheral Blood Stem Cells With Filgrastim (Granulocyte-colony Stimulating Factor) and Plerixafor From Patients With Diamond Blackfan Anemia Syndrome
This will see if people with Diamond Blackfan anemia can mobilize enough CD34+ stem cells into the blood so they can be collected for possible future gene therapy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 10 (estimated) |
| Ages | 3 Years to 30 Years |
| Sex | All |
| Sponsor | Northwell Health Academic / other |
| Drugs / interventions | prednisone |
| Locations | 1 site (New Hyde Park, New York) |
| Trial ID | NCT07186179 on ClinicalTrials.gov |
What this trial studies
This observational protocol gives a mobilization regimen (for example, G-CSF) to patients with genetically confirmed Diamond Blackfan anemia and measures peripheral blood CD34+ counts and harvest yields. Participants who are chronically transfusion-dependent and enrolled in the DBAR will undergo mobilization and apheresis to determine whether sufficient stem cells can be collected. The study excludes patients on prednisone for DBAS, those with myelodysplasia or malignancy, pregnant or breastfeeding individuals, and those with severe iron overload. Results will inform whether autologous gene-correction approaches are feasible in this patient population.
Who should consider this trial
Good fit: Children and young adults (ages 3–30) with genetically confirmed Diamond Blackfan anemia who are chronically red blood cell transfusion–dependent and enrolled in the DBAR are the intended participants.
Not a fit: Patients receiving prednisone for DBAS, with known myelodysplasia or a hematopoietic clone, current or prior malignancy, severe iron overload, or who are pregnant or breastfeeding are unlikely to benefit from this mobilization approach.
Why it matters
Potential benefit: If successful, this could enable collection of enough stem cells to permit autologous gene therapy for some patients with DBAS, potentially correcting the anemia.
How similar studies have performed: Mobilizing CD34+ cells with G-CSF or similar agents is well established in other marrow disorders, but its effectiveness specifically in DBAS has not been well documented.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Diamond Blackfan anemia syndrome as defined by the known criteria with a known gene mutation 2. 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 3. Enrolled in Diamond Blackfan Anemia Registry of North America (DBAR) 4. Chronically red blood cell transfusion dependent for at least 6 months 5. Performance scale (Lansky Play-performance Scale for Pediatric Functional Status for age \<16 years; Karnofsky Performance Scale for age ≥16 years) ≥ 70 6. Must sign informed consent Exclusion Criteria: 1. Receiving prednisone therapy for treatment of DBAS (this does not include patients receiving physiologic steroid replacement for adrenal insufficiency) 2. Known history of myelodysplasia or presence of a hematopoietic clone 3. Current malignancy or previous treatment for malignancy 4. Pregnancy or breast-feeding mother 5. Known history of severe iron overload as defined by a liver iron concentration (LIC) \> 15 mg Fe/ g dry liver weight 6. Significant cytopenias, defined as: * Platelet count \<100,000/mcL * Absolute neutrophil count \<750/mCL 7. Any GCSF use in the 3 months prior to enrollment 8. Liver dysfunction: aspartate aminotransferase (AST), alanine aminotransferase (ALT), or direct bilirubin values \>3 x the upper limit of normal (ULN) 9. Kidney dysfunction: baseline estimated glomerular filtration rate (GFR) \<70 mL/min/1.73 m2
Where this trial is running
New Hyde Park, New York
- Cohen Children's Medical Center — New Hyde Park, New York, United States (Recruiting)
Study contacts
- Principal investigator: Alexandra Satty, MD — Northwell Health
- Study coordinator: Maryam Hussain, MPH
- Email: mhussain9@northwell.edu
- Phone: 516-562-1505
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.