In autoimmune diseases, many conditions share similar symptoms as well as similar treatments. Off-label drugs are often used to treat autoimmune diseases for which they were not originally approved. The repurposing of existing drugs is useful because it can save money, time, and lives.
A study by the National Institutes of Health’s (NIH) National Institute of Allergy and Infectious Diseases (NIAID) found that ruxolitinib, a drug for autoimmune diseases and cancers, can alleviate symptoms of autoimmune polyendocrine syndrome type 1 (APS-1). APS-1 is a rare autoimmune condition caused by a genetic mutation of the autoimmune regulatory gene (AIRE). This causes a deficiency in the gene that keeps the immune system's T-cells from attacking the body, leading to autoimmunity.
Researchers discovered that APS-1 is associated with elevated levels of interferon-gamma (IFN-gamma), and looked for an existing drug that can lower IFN-gamma. Through this process, they identified ruxolitinib, which had been previously approved as an immunosuppressant for the treatment of a rare type of blood cancer and chronic graft-versus-host disease.
There were three stages to the study. First, researchers examined the blood and tissue samples of 110 patients with APS-1 and found elevated levels of IFN-gamma. Second, researchers looked at a mouse model where mice with the APS-1 showed similarly elevated IFN-gamma levels and tissue damage. When they administered ruxolitinib to these mice, it normalized IFN-gamma responses and prevented tissue damage. Third, researchers tested the medication on human subjects by treating five APS-1 patients with ruxolitinib. This showed reduced IFN-gamma levels and improved symptoms.
The next stage of the research is to test the medication on a larger and more diverse population to confirm its efficacy (Phase II/III clinical trials). These clinical trials are necessary for the approval of new treatments or the approval of existing treatments for new medical conditions.
The Autoimmune Registry supports various clinical trials and hosts an educational webinar series in order to accelerate the approval of new treatments for autoimmune diseases. To support the Autoimmune Registry, please share our information with others affected by autoimmune diseases. Donations are also greatly appreciated!
