A Phase 1, Open-label, Single-arm Study of APR 2020 in Transfusion Dependent, Steroid Resistant Pediatric and Adolescent Subjects With RPS19 Deficient Diamond Blackfan Anemia by Transplantation of Autologous CD34+ Stem Cells Transduced With CLIN LV EFS coRPS19 PRE* (APR-2020)
Brief summary The goal of this clinical trial is to learn if APR-2020 is safe and can help treat Diamond-Blackfan Anemia (DBA) in adolescents and children. The main questions it aims to answer are: * Is APR-2020 safe and well tolerated? * Does APR-2020 modify or correct an underlying genetic condition which causes DBA? * Does APR-2020 reduce or eliminate the need for blood transfusions and/or restore certain blood counts affected by DBA? Participants will: * Take the drug one time as an infusion. * Undergo two rounds of a cellular harvest procedure in which their own cells will be used in the manufacturing of their own participant-specific product. * Initially return to the clinic for two years of follow up at increasingly sparse intervals.
• Confirmed diagnosis of RPS19-deficient DBA.
• Signed informed consent by the subject or legally authorized representative.
• Bone marrow analysis demonstrating normal cytogenetics except for RPS19-deficient DBA.
• Subjects are between 2 and 18 years of age, inclusive.
• Eligible for allogeneic marrow or stem cell transplant for DBA (non-critical cardiac and hepatic iron overload).
• Corticosteroid resistance
• Transfusion-dependent anemia
• Willingness to return for long-term follow-up
• Adequate renal and pulmonary function
⁃ Able to undergo hematopoietic stem cell transplant (HSCT) mobilization and apheresis procedures.