Health
Existing drug shows promise as treatment for rare genetic disease
A drug approved to treat certain autoimmune diseases and cancer has been shown to successfully alleviate symptoms of a rare genetic syndrome called autoimmune polyendocrine syndrome type 1 (APS-1). Researchers identified the treatment after discovering that the syndrome is associated with elevated levels of interferon-gamma (IFN-gamma), a protein involved in immune system responses, providing new insights into the role of IFN-gamma in autoimmunity. The study, led by researchers at the National Institute of Allergy and Infectious Diseases at the National Institutes of Health, was reported today. New England Journal of Medicine.
Researchers conducted a three-phase study in mice and humans to investigate how APS-1 causes autoimmune disease. The syndrome is characterized by the failure of multiple organs, usually beginning in childhood, and is fatal in more than 30 percent of cases. The genetic syndrome is caused by a genetic defect that prevents the immune system's T cells from attacking the body's own cells, leading to autoimmunity, chronic yeast infections of the skin, nails, and mucous membranes, and insufficient production of hormones from endocrine organs such as the adrenal glands. Symptoms include stomach inflammation, liver inflammation, lung inflammation, hair loss, loss of skin pigmentation, tissue damage, and organ failure.
In the first phase of the study, researchers led by scientists in NIAID's Clinical Immunology and Microbiology Laboratory investigated the natural history of APS-1 in 110 adults and children. They analyzed blood and tissues and compared gene and protein expression between APS-1 patients and non-patients. They found that IFN-γ responses were elevated in the blood and tissues of APS-1 patients, indicating that IFN-γ may play an important role in the disease and provide a pathway that can be targeted therapeutically.
In the second phase of the study, the scientists tested mice with the same gene defect that causes APS-1 in humans and found that the animals also experienced autoimmune tissue damage and elevated levels of IFN-γ. Mice that were also deficient in the IFN-γ gene did not show autoimmune tissue damage, indicating a direct link between IFN-γ and APS-1 symptoms. Based on this understanding, the researchers searched for a drug that could be used to reduce IFN-γ activity in humans. They selected ruxolitinib, a Janus kinase inhibitor that works by blocking the pathway driven by IFN-γ. Administering ruxolitinib to mice with the gene defect that causes APS-1 normalized the IFN-γ response and prevented T cells from infiltrating tissues and damaging organs. These results indicate that ruxolitinib can reduce the effects of the gene defect, suggesting that it may be effective in treating APS-1 in humans.
In the third phase of the study, the researchers administered ruxolitinib, provided by the NIH Clinical Center, to five APS-1 patients (two adults and three children). Dosage and regimens were tailored to the individual, and treatment was continued for at least a year. The drug was safe and well tolerated, and all study participants experienced improvement in their symptoms. Blood and tissue analysis revealed reduced production of IFN-γ from T cells and normalized IFN-γ levels in the blood. Many symptoms associated with APS-1 were alleviated, including hair loss, oral yeast infections, gastroenteritis, hives, and thyroiditis.
The results revealed that normalizing IFN-gamma levels with ruxolitinib may reduce the harmful effects of APS-1 in humans. The scientists note that studies with larger and more diverse patient groups are needed to determine whether ruxolitinib and similar drugs are suitable treatments for APS-1 patients. They write that understanding the role of IFN-gamma in autoimmunity could lead to the development of treatments for related diseases. The study highlights the importance of finding causes and cures for rare diseases.
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Sources 2/ https://www.sciencedaily.com/releases/2024/05/240530132311.htm The mention sources can contact us to remove/changing this article |
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