This observational study is looking at whether people with Diamond Blackfan Anemia Syndrome (DBAS), a rare blood disorder, can produce enough stem cells for a potential new gene therapy. Researchers will use a standard Mobilization Regimen (a drug treatment) to encourage stem cells to move from the bone marrow into the bloodstream. The goal is to see if enough of these CD34+ stem cells can be collected to allow for future gene therapy, which aims to correct the anemia in DBAS. You may be able to join if you are between 3 and 30 years old, have DBAS with a known gene mutation, and are enrolled in the Diamond Blackfan Anemia Registry of North America (DBAR). The study will measure if 5-30 CD34+ cells/µL can be collected within two weeks.

Study design

This is an observational study with a planned enrollment of 10 participants. It is not a randomized or blinded study.

What's involved

Upon starting the study, you will have a peripheral blood draw and a bone marrow aspiration and biopsy. The study will assess stem cell collection feasibility over 2 weeks.

Compensation

Not stated in the trial record.

Follow-up

The primary outcome of the study is measured at 2 weeks, focusing on the feasibility of collecting stem cells.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.