SCD is affecting millions of people around the globe and is caused by a mutation in the hemoglobin gene. SCD patients’ red blood cells form a sickled shape and become sticky, attaching to vessels walls and other blood cells. This leads to a reduced blood flow and impaired transport of oxygen to vital organ.

Reduced oxygen transport causes sufferers to experience acute painful crises, so called Vaso-Occlusive Crisis (VOC), and long-term organ damage over time, which leads to severe complications and early death. The severe pain is the main reason for SCD patients to seek hospital care. Current management of these painful crises is symptomatic, only treating the pain, often with strong opioids. There is currently no disease-modifying therapy targeting the blockage in the blood vessels, which would have an effect on the severity and duration of the acute painful crisis. Prophylactic therapy may reduce the frequency of crises, but this has no proven effect on the actual crisis.

SCD is an orphan disease with around 100,000 patients in the US and 40,000 in Europe. There are additionally a significant number of patients in the Middle East, India, South America and Africa. There are genetic tests available, routinely used in newborn screening programs in many countries.