Mobilizing CD34+ stem cells in Diamond Blackfan anemia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.