Sickle cell anemia (or sickle cell disease, SCD) is one of the most common hereditary monogenic diseases. Approximately 90,000 people living the United States have sickle cell anemia, and worldwide, more than 275,000 children are born with the disease each year (Nature Editorial, 2021). The clinical manifestations of the disease are vaso-occlusive crises in vital organs. This eventually leads to irreversible organ damage, poor quality of life, reduced life expectancy, and even death. The primary method of treatment is the use of hydroxyurea, the mechanism of action of which is to increase the level of fetal hemoglobin (Nature Editorial, 2021). In many patients, the use of hydroxyurea is the only therapy that relieves the manifestations of the disease.
The use of gene therapy in patients with SCD may provide long-term clinical remission. As recently presented by John F. Tisdale, MD, of the National Institute of Health’s National Heart, Lung and Blood Institute, investigational gene therapy LentiGlobin takes only one dose to restore blood cells and prevents patients from getting severe vaso-occlusive events for as long as three years. This means that patients with SCD could now live a normal, longer life without being constantly threatened to experience a pain crisis suddenly.
The results obtained as a result of clinical studies confirm the high effectiveness of the treatment. All 35 patients with SCD who received the first or second dose of investigational gene therapy LentiGlobin are reported to have engraftment (Volpe, 2022). All 25 evaluable patients are reported to experience a complete resolution of painful vaso-occlusive events (Volpe, 2022). It is also noted that markers of hemolysis also dropped considerably. Three patients were registered to suffer from transient adverse effects, which all resolved after a week. Importantly, it is needed to condition a person’s marrow with high-dose chemotherapy before the gene therapy. This is necessary for old cells elimination and room clearing (Volpe, 2022). However, researchers are already searching for less toxic methods.
References
Nature Editorial. (2021). Sickle-cell disease. Nature. Web.
Volpe, K. D. (2022). Sickle cell anemia update: Gene therapy reverses pain events for years. Clinical Advisor. Web.