New York – January 25, 2023 – This information is from the Relapsing Polychondritis Foundation Inc. (RP Foundation) with Race for RP.
A new study by investigators from the National Institutes of Health (NIH) and New York University Grossman School of Medicine (NYU Grossman), published online in the Journal of the American Medical Association (JAMA) on January 24, found that the recently discovered inflammatory disease VEXAS syndrome is more common than previously understood.
The team of researchers analyzed the health records of 163,096 adult volunteers enrolled in the Geisinger MyCode Community Health Initiative which collected data for over 25 years from a network of Pennsylvania hospitals. 12 participants, 10 men and two women, were found to have the UBA1 mutation and all exhibited VEXAS symptoms.
The findings corresponded to one in 4,269 American men over age 50 and one in 26,238 women over age 50 having or being likely to develop VEXAS, making it more common than many other inflammatory conditions, including vasculitis and myeloid dysplasia syndrome (MDS).
Study researchers plan to analyze patient records in more diverse groups, with an emphasis on patients with higher rates of rheumatologic and blood disease, to better measure VEXAS risk. They also plan to look for additional genetic causes, test new therapies, and develop a simple diagnostic blood test for the UBA1 gene, mutations in which have been identified as a cause of VEXAS.
“Philanthropic partners like the Relapsing Polychondritis Foundation are vital to this research,” said geneticist and study lead investigator David B. Beck, MD, PhD. “I appreciate the foundation’s support that helped get us here. We are grateful for their continued commitment to improving outcomes for people suffering from VEXAS and related autoimmune disease.” Dr. Beck is an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology at NYU Langone Health and director of NYU Langone’s clinical Inflammatory Disease Genetics Program.
Previous studies have established an overlap of clinical symptoms between VEXAS syndrome and other autoimmune disorders, with more than 50% of patients with VEXAS meeting diagnostic criteria for relapsing polychondritis (RP) and mutations in UBA1 being causal for disease in a subset of patients with RP.
The RP Foundation contributed to funding for this study and continues to invest in collaborative research, including ongoing investigations by Dr. Beck’s team at NYU Grossman and the University of Texas MD Anderson Cancer Center to study the mechanisms of progression of RP to myelodysplastic syndromes and other hematological (blood-based) malignancies using genetic and transcriptomic approaches.
More information on the study can be found here.
For more information about relapsing polychondritis, the RP Foundation, and the Race for RP, please visit http://www.polychondritis.org and http://raceforrp.org/. For all general and media inquiries, please contact David Bammert at (906) 869-3962 or firstname.lastname@example.org.
About the Relapsing Polychondritis Foundation Inc. The Relapsing Polychondritis Foundation Inc. is a 501(c)(3) non-profit organization which strives to raise awareness and educate the public, as well as represent its patients to the global medical community and support medical research toward a cure. For more information about the RP Foundation, please visit the foundation’s website.
About Race for RP Race for RP is a non-profit organization that supports research, awareness programs, and care, for those affected by relapsing polychondritis and related diseases. RP is a painful, debilitating, and sometimes fatal autoimmune disease in which the immune system misfires, turning on the patient’s cartilage. For more information about Race for RP, please visit the organization’s website.
Company Name: Relapsing Polychondritis Foundation
Name: David Bammert
Phone: (906) 869-3962
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