Sickle Cell Disease (SCD) is a hereditary disorder of hemoglobin. It is characterized by severe hemolytic anemia with a range of clinical manifestations such as anemia, periodic episodes of pain (pain crises), frequent infections, and delayed growth or puberty among other symptoms.
More people in Africa suffer from SCD than in other parts of the world. In a quest spanning decades of work, scientists, researchers, and regulatory bodies continue to explore various treatments to find a cure for the disease albeit with slow progress. However, it appears we may have an imminent breakthrough with finding the elusive cure with advances in medical technology and increased clinical trials by the biggest healthcare players in the world.
The Past: Hydroxyurea
One major innovation in the management of sickle cell disease came in the 1980s with the discovery that a drug called hydroxyurea could reduce pain for people living with it by 50%. Other efforts have been focused mostly on prevention through health education to raise awareness for people already living with the disease and the public.
Hydroxyurea was first tested in a person with sickle cell disease in 1984 and was found to decrease the rate of acute chest syndrome (ACS) episodes and blood transfusions by about 50% in adults. Initially developed as an anticancer drug, it has since been used to treat myeloproliferative syndromes such as leukemia, melanoma, and ovarian cancer. Although it presents certain side effects such as neutropenia, bone marrow suppression, the elevation of hepatic enzymes, anorexia, nausea, vomiting, and infertility, the US Food and Drug Agency (FDA) in adults due to its efficacy at improving the quality of life when applied to SCD patients.
The Future: Gene Therapy
A new wave of innovation is bringing hope to people living with sickle cell disease. Novartis and the Bill and Melinda Gates Foundation are collaborating to develop a single-shot gene therapy that would cure sickle cell disease without the need to engineer cells outside the body. If gene-based cures do materialize, they could significantly change the lives of patients with the disease. We can be confident that in the coming years the therapeutic landscape for SCD will change due to a combination of advances in genetics and genomics.
Xcene Research is playing an active role in the very first steps toward fulfilling this vision by facilitating SCD-focused clinical trials in sub-Saharan Africa.
