Our First Clinical Focus, Diamond Blackfan Anemia Syndrome (“DBAS”) (RPS19 variant)
RPS19-deficient Diamond-Blackfan Anemia Syndrome (DBAS) is a rare, pediatric bone marrow failure syndrome characterized by a patient’s inability to produce red blood cells (RBCs). RBCs carry oxygen throughout the body, without them human beings cannot survive.
Treatments for DBA include chronic red blood cell transfusions and corticosteroid therapy, both of which can cause serious side effects including organ failure, iron overload and cancer.
Currently, the only “curative” treatment for DBAS is a bone marrow transplant (HSCT). This procedure requires high-intensity myeloablative chemotherapy to eliminate the existing hematopoietic system to allow the donated cells to engraft.
Patients who survive transplantation are at risk of chronic graft vs. host disease (cGVHD) as well as the well-known side effects of chemotherapy – which can include terminal forms of cancer.
DBAS is considered an ultra-rare pediatric and orphan disease. APR-2020, Apriligen’s lead therapeutic candidate has been granted Orphan Drug, Rare Pediatric Disease, Fast Track and Rare Disease Evidence Principles (RDEP) designations by the US Food and Drug Administration (FDA) and Orphan Drug Designation by European Medicines Agency (EMA).