NOVEL THERAPEUTIC APPROACHES IN THALASSEMIAS, SICKLE CELL DISEASE AND OTHER RED CELL DISORDERS

A deeper understanding of the pathophysiology of hereditary red cell disorders and the development of novel classes of pharmacologic agents in this last decade have provided novel therapeutic approaches to thalassemias, sickle cell disease (SCD) and other red cell disorders. The novel therapeutic tools are discussed according to their targets and considering the erythroid cell journey from erythropoiesis to mature erythrocytes into the peripheral circulation. We focus on active clinical exploratory and confirmatory trials on thalassemias, SCD and other red cell disorders. We found that the progress in disease knowledge and the increase thepeutic strategies have allowed the design of clinic studies for hereditary red cell disoders still lacking valuable therapeutic alternative such as -thalassemias, congenital diserythropoiestic anemia or Blackfan Diamond anemia In addition, the attempt to live a second life for agent such as bitopertin, a modulator of heme synthesis, might represent another aspect of lead development for ultra rare disease such as erythropoietic protoporphyria. Finally, our review highlights the current state of therapeutic scenario development, in which multiple indications targeting different red cell disorders are being considered for a single agent. This is welcome to bring faster orphan diseases therapies to patients with thalassemias, SCD and other red cell disorders.