Iptacopan for paroxysmal nocturnal haemoglobinuria

Iptacopan is in development for the treatment of paroxysmal nocturnal haemoglobinuria (PNH). PNH is a rare condition, which occurs due to a genetic change within cells in the bone marrow. In PNH, blood cells lack specific proteins on their surface which normally protect them from being destroyed (a process called haemolysis in red blood cells) by the body's normal defence system. PNH is characterised by the presence of brownish urine. The characteristic colour of urine is due to the presence of products from destroyed red blood cells. Patients have a low count of red blood cells and may have blood clots in the large vessels. The exact cause of PNH is not fully understood but it is known that the genetic mutation is acquired. PNH can be potentially life threatening, and thrombosis (blood clot) is recognised as the leading cause of death in PNH patients. There are currently few treatment options available for PNH and current treatments can be expensive.