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

Plain-language summary

This study evaluates a mobilization regimen to collect CD34+ peripheral blood stem cells in patients with Diamond Blackfan anemia syndrome. People with a known gene mutation, aged 3 to 30 years and dependent on regular blood transfusions for at least 6 months, may take part. The study does not use a clinical phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Northwell Health

Intervention

Mobilization Regimen

Start date

6/1/2026

Estimated completion

4/1/2027

Countries

United States

Related genes

Locations

• New Hyde Park, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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