RecruitingNot Applicable

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

United States10 participantsStarted 2026-06-01

Plain-language 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.

Who can participate

Age range

3 Years – 30 Years

Sex

ALL

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Inclusion criteria

. 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

Exclusion criteria

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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

Timeframe: 2 weeks

Trial details

NCT IDNCT07186179

SponsorNorthwell Health

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-10-01

Contact for this trial

Maryam Hussain, MPH

516-562-1505 mhussain9@northwell.edu

View on ClinicalTrials.gov More Diamond Blackfan Anemia trials