Giles Campion, MD, Head of R&D at Silence Therapeutics, discuss SLN124, a gene silencing therapy in development for the treatment of thalassemia.
As Dr. Campion explains, thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin. This causes a shortage of red blood cells, low levels of oxygen in the bloodstream, and iron overload, all leading to a variety of health concerns. There are two main types of thalassemia, alpha thalassemia (caused by mutations in the HBB gene) and beta thalassemia (caused by mutations in the HBA1 and/or HBA2 genes). Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, jaundice, and bone problems.
Hepcidin deficiency is a large contributing factor of iron overload in thalassemia. SLN124 is a gene silencing therapy which aims to temporarily silence TMPRSS6, a gene that prevents the liver from producing hepcidin. As hepcidin increases, iron levels in the blood are expected to decrease, which may increase the production of healthy red blood cells and thereby reduce anemia.
In May 2021, Silence Therapeutics completed the GEMINI phase 1 study of SLN124 in healthy volunteers. Data from the study showed SLN124 was safe and effective in reducing plasma iron levels and had a long duration of action.
Currently, Silence Therapeutics is evaluating SLN124 in the GEMINI II phase 1 study in adults with thalassemia and myelodysplastic syndrome, which they expect to have data from in the third quarter of 2022. This clinical trial is currently still enrolling.
To learn more about this and other rare blood disorders, visit checkrare.com/diseases/blood-diseases/