NCT07186179 Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
| NCT ID | NCT07186179 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Northwell Health |
| Condition | Diamond Blackfan Anemia |
| Study Type | OBSERVATIONAL |
| Enrollment | 10 participants |
| Start Date | 2026-06-01 |
| Primary Completion | 2026-10-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 10 participants in total. It began in 2026-06-01 with a primary completion date of 2026-10-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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
Contact & Investigator
Alexandra Satty, MD
PRINCIPAL INVESTIGATOR
Northwell Health
Frequently Asked Questions
Who can join the NCT07186179 clinical trial?
This trial is open to participants of all sexes, aged 3 Years or older, up to 30 Years, studying Diamond Blackfan Anemia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07186179 currently recruiting?
Yes, NCT07186179 is actively recruiting participants. Contact the research team at mhussain9@northwell.edu for enrollment information.
Where is the NCT07186179 trial being conducted?
This trial is being conducted at New Hyde Park, United States.
Who is sponsoring the NCT07186179 clinical trial?
NCT07186179 is sponsored by Northwell Health. The principal investigator is Alexandra Satty, MD at Northwell Health. The trial plans to enroll 10 participants.