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

NCT07186179 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2026-04-27

No results posted yet for this study

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

Interventions

DRUG

Mobilization Regimen

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.

Sponsors & Collaborators

  • Northwell Health

    lead OTHER

Principal Investigators

  • Alexandra Satty, MD · Northwell Health

Eligibility

Min Age
3 Years
Max Age
30 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-06-01
Primary Completion
2026-10-01
Completion
2027-04-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07186179 on ClinicalTrials.gov