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

NCT07186179 | Recruiting

• 1 other identifier: 24-0953-CCMC
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

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 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

Diamond Blackfan Anemia

Keywords

Diamond Blackfan Anemia; Mobilization; CD34+; GCSF

Outcome Measures

Primary Outcomes (1)

• Feasibility of collecting 5-30 CD34+ cells/µL in patients ages 3 to 30 years with Diamond Blackfan anemia syndrome

  This study will analyze the number of participants that successfully achieve 5-30 CD34+ cells/µL peripheral blood during the study period.

  2 weeks

Secondary Outcomes (5)

• Time to successful mobilization of CD34+ cells/µL peripheral blood

  2 weeks

• Correlation of bone marrow CD34+ count with the ability to mobilize an adequate number of CD34+ cells in the peripheral blood.

  2 weeks

• Correlation of mobilization of 5-30 CD34+ cells/µL peripheral blood with subject's age

  2 weeks

• Correlation of mobilization of 5-30 CD34+ cells/µL peripheral blood with bone marrow cellularity.

  2 weeks

• Correlation of mobilization of 5-30 CD34+ cells/µL peripheral blood with DBAS genotype

  2 weeks

Interventions

Mobilization Regimen DRUG

This study will utilize a standard mobilization regimen that is used for peripheral blood stem cell mobilization in patients with a variety of underlying conditions. Upon study initiation, participants will undergo a peripheral blood draw and bone marrow aspiration and biopsy. They will then begin the following mobilization regimen: 1. Granulocyte-colony stimulating factor (G-CSF; filgrastim) dosed at 10mcg/kg/day administered subcutaneously in the morning for 5-7 days 2. Plerixafor dosed at 0.24mg/kg/day administered subcutaneously in the evening for 1-4 days Participants will undergo daily blood draws until criteria for study completion is achieved.

Eligibility Criteria

• Age: 3 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Diamond Blackfan Anemia Syndrome (DBAS) ages 3-30 with red blood cell transfusion dependence

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Northwell Health: lead

Study Sites (1)

Cohen Children's Medical Center

New Hyde Park, New York, 11040, United States

RECRUITING

MeSH Terms

Conditions

Anemia, Diamond-Blackfan

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Red-Cell Aplasia, Pure; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Alexandra Satty, MD

  Northwell Health

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maryam Hussain, MPH

CONTACT

516-562-1505; mhussain9@northwell.edu

Eva Atsidaftos, MPH

CONTACT

eatsidaf@northwell.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor Hofstra University/ Attending Physician Cohen Children's Medical Center

Study Record Dates

• First Submitted: September 8, 2025
• First Posted: September 22, 2025
• Study Start (Estimated): June 1, 2026
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): April 1, 2027
• Last Updated: April 27, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)