The Relapsing Polychondritis Foundation Invests in the Next Phase of VEXAS Research

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The Relapsing Polychondritis Foundation is partnering with the researchers at NYU Langone Health and the NIH who, in 2020, discovered a new autoimmune disease named VEXAS Syndrome, to build upon this exciting and potentially ground-breaking work.

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VEXAS is an acronym for: Vacuoles, E1 ubiquitin Activating Enzyme, X-linked, Autoinflammatory, Somatic, with each letter representing one of the hallmark features of this novel autoinflammatory syndrome¹,². The discovery of VEXAS syndrome is revolutionary because it demonstrated that autoimmune disorders previously thought to be unrelated to each other, like relapsing polychondritis (RP), polyarteritis nodosa, Sweet syndrome, and giant cell arteritis, share a common acquired, somatic mutation in the UBA1 gene². UBA1 gene mutations result in the decreased production of an enzyme that breaks-down misfolded proteins and are clinically associated with systemic inflammation, anemia, and bone marrow dysplasia.

The VEXAS discovery will potentially improve the classification of hematologic (blood-based) and adult-onset recurrent autoimmune diseases like RP, it was deemed the “year’s best” advancement in hematology-related diagnoses¹. More importantly, the VEXAS study provides researchers with the opportunity to develop treatments for patients with rheumatologic diseases as well as patients with bone marrow dysplasia (i.e. myeloid neoplasms).

The RP Foundation is investing in the next phase of the VEXAS research project to continue the search for additional genetic mutations in patients with autoimmune diseases and bring science closer to the discovery of a biomarker for RP. Genetic variants will be correlated with the clinical history of the subjects, followed by laboratory-based experiments to determine the mechanism by which these genetic variations lead to systemic inflammation and disease. This project will leverage a collaborative network of talented researchers in Inflammatory Disease Genetics Program at NYU Langone in the Center for Human Genetics and Genomics and Division of Rheumatology and the Relapsing Polychondritis and Autoinflammatory Clinics at the NIH.

To learn more about VEXAS and the research that the RP Foundation’s support is expanding upon, check out the following articles:

1. Year’s best in discovery at the American Society of Hematology:
2. UBA1 mutations as a frequent driver of Relapsing Polychondritis:
3. UBA1 mutations as a cause of Lupus:
4. Predictors of mortality in VEXAS syndrome:

About Relapsing Polychondritis
Relapsing Polychondritis (RP) is a rare, debilitating autoimmune disease that affects three to five people per million. RP is difficult to diagnose because of its insidious onset, and variable severity and frequency of symptoms which may include: inflammation of the cartilage in the ears, bridge of nose and trachea; shortness of breath; painful joints; fatigue; numbness in the hands; visual disturbances; skin rashes; voice changes; and weakened blood vessel walls, including the aorta.

Because it is rare, few physicians are familiar with RP and there is not a biomarker to help with the diagnosis of rare autoimmune disease. Consequently, it typically takes numerous multi-specialty doctor visits to receive a diagnosis. While having a diagnosis provides some comfort to patients, this comfort is short-lived because there isn’t a targeted treatment for RP and immunosuppressant therapy is palliative at best.

RP continues to be an underserved research and patient care area. Simply stated, RP-focused research is greatly needed to advance the path to a cure and provide tangible hope to patients with RP and their families.

About the RP Foundation
The Relapsing Polychondritis (RP) Foundation is a 501(c)3, non-profit organization whose mission is to increase awareness and educate the broader community and medical professionals regarding relapsing polychondritis and RP-related autoimmune diseases, and support research initiatives that advance the path to a cure.

About Race for RP
The Race for RP drives awareness and accelerates research support for the Relapsing Polychondritis Foundation. Our drivers are passionate about raising awareness for the autoimmune disease community and RP. While our drivers race for RP, our organization is speeding to find a cure. We’re working with the Relapsing Polychondritis Foundation to facilitate research and studies to help diagnose, prevent, and cure RP and its related diseases. Whether you’re a professional driver, amateur racer, or a weekend warrior passionate about racing, we encourage you to connect with us to discover how you can Race for RP. For more information about Race for RP, please visit our website.

1. Hasserjian, R. P., M.D. (2022). This year's best in hematology diagnosis: A new disease is discovered. The Hematologist, 19(1), 1-8.

2. Evans, J., & Jancin, B. (2021). VEXAS: A novel rheumatologic, hematologic syndrome that's making waves. Internal Medicine, April, 1-9.

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David Bammert
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