Apriligen, Inc.
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.
This open-label, single-arm study evaluates the safety and efficacy of APR-2020 in transfusion-dependent, steroid-resistant pediatric and adolescent patients with RPS19-deficient Diamond-Blackfan Anemia (DBA). Disease Background: DBA is a congenital bone marrow (BM) failure syndrome characterized by early-onset hypoplastic anemia secondary to selective erythroid aplasia. The cardinal hematologic manifestation is a severe normochromic, macrocytic anemia in the presence of preserved leukocyte and platelet counts. In approximately 90% of affected individuals, hematologic abnormalities manifest w…
Key Inclusion Criteria: 1. Confirmed diagnosis of RPS19-deficient DBA. 2. Signed informed consent by the subject or legally authorized representative. 3. Bone marrow analysis demonstrates normal cytogenetics except for RPS19-deficient DBA. 4. Between 2 and 25 years of age, inclusive. 5. Eligible for allogeneic marrow or stem cell transplant for DBA (noncritical cardiac and hepatic iron overload). 6. Corticosteroid resistance 7. Transfusion-dependent anemia 8. Willingness to return for long-term follow-up 9. Adequate renal and pulmonary function 10. Able to undergo hematopoietic stem cell tran…
The drug product (DP) is designated as APR-2020 and is composed of autologous human CD34+ cells derived from each clinical patient with RPS19-deficient DBA that have been transduced ex vivo with the drug substance.