Recruiting

Gene Therapy

Sponsor:

Northwell Health

Code:

NCT07186179

Conditions

Diamond Blackfan Anemia

Eligibility Criteria

Sex: All

Age: 3 - 30

Healthy Volunteers: Not accepted

Interventions

Mobilization Regimen

Study Details

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

Study ID

NCT07186179

Start date

Jun 1, 2026

Status verified date

Apr, 2026

Completion date

Apr 1, 2027

Anticipated

Primary completion date

Oct 1, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 3 - 30

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

10 participants

Anticipated

Interventions and Outcome Measures

Interventions

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.

Primary outcome measure

  • Feasibility of collecting 5-30 CD34+ cells/µL in patients ages 3 to 30 years with Diamond Blackfan anemia syndrome [ Time Frame: 2 weeks ]

Central Contacts and Locations

Central contacts

Maryam Hussain, MPH

516-562-1505mhussain9@northwell.edu

Eva Atsidaftos, MPH

eatsidaf@northwell.edu

Locations

Cohen Children's Medical Center

Recruiting

New Hyde Park, New York, United States, 11040

Contacts

Maryam Hussain, MPH

516-562-1505mhussain9@northwell.edu

Eva Atsidaftos, MPH

eatsidaf@northwell.edu

Principal Investigator:

Alexandra Satty, MD

More Information

Sponsor

Northwell Health

Last update posted

Apr 27, 2026

Last verified

Apr, 2026

Keywords

  • Diamond Blackfan Anemia
  • Mobilization
  • CD34+
  • GCSF

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Northwell Health on 2026-04-27.