By: Jonca Bull, M.D.
Today is a World Sickle Cell Awareness Day, an annual reminder that Sickle Cell Disease (SCD) is a major area of unmet medical need that causes serious and devastating consequences to many thousands of children and adults. It is an occasion that has been commemorated each year since 2008, when the General Assembly of the United Nations adopted a resolution recognizing SCD as a global public health concern. I am happy to have this opportunity to help raise awareness about the impact of this disease on patients and their families, and to emphasize the need for additional therapies to prevent or treat SCD and its complications.
SCD is a genetic disorder that most commonly affects people of African descent; however, it also affects Hispanics, Asians, and people of Mediterranean and Middle Eastern descent. Millions of people are living with this disease all over the world. Here in the U.S., there are about 100,000 people with SCD and it is estimated that the disease occurs in one of every 500 Black or African American and one out of every 36,000 Hispanic-American births. Additionally, one in 12 African Americans carry sickle cell trait, the gene for the disease. People with SCD have “sickled” or abnormally shaped red blood cells that get stuck in small blood vessels blocking the flow of blood and oxygen to major organs in the body. These blockages can cause severe pain, organ damage or even stroke in some cases. SCD is a chronic and debilitating disease affecting people for their entire lives.
The Food and Drug Administration is committed to continuing the dialogue around Sickle Cell Disease to facilitate the development of safe and effective treatments to prevent the disease or reduce its complications. On February 7, 2014, our agency held a Patient-Focused Drug Development meeting to ask patients with SCD and their families, caretakers, and advocates about the various aspects of their disease and how it affects their lives on a daily basis. We heard from approximately 300 people on their treatment regimens, symptoms and complications from treatments, and what they would like to see in terms of future treatments. FDA learned a great deal from this meeting, and we hope this is the first of many successful collaborations leading to the development and approval of effective therapies for SCD.
Only limited treatment options exist for this disease, and more development is needed. In 1998, the FDA approved hydroxyurea to reduce the frequency of pain crises and the need for blood transfusions in adult patients with Sickle Cell Anemia. While the use of hydroxyurea has proven to be helpful in reducing complications in some patients, it is not universally effective and the mechanism of action is not completely understood. Other treatments, such as chronic transfusion therapy, although effective for some, can present problems for patients, which limits their use. Stem cell transplantation has been noted as a potential cure for SCD, but due to the lack of matched donors and associated risks during and after the procedure, this is also a limited option. As part of the FDA’s effort to facilitate the development of new SCD treatments, our Office of Minority Health has funded research to identify new methods to improve the safety and availability of blood for transfusion, and FDA’s drug experts are working with members of the pharmaceutical industry and outside researchers.
As we take the time today to reflect on the impact of Sickle Cell Disease, our agency encourages the search for new and better SCD therapies through medical innovation by using information gained from patients and their caregivers in the recent Patient-Focused Drug Development Meeting on Sickle Cell Disease. We will continue to join our efforts with those of patients, researchers, industry, and sister agencies such as the Centers for Disease Control and Prevention and the National Institutes of Health, to lessen the burden of Sickle Cell Disease across the globe.
Jonca Bull, M.D., is Director of FDA’s Office of Minority Health