The Relapsing Polychondritis Foundation is collaborating with clinical researchers at The University of Texas MD Anderson Cancer Center and NYU Grossman School of Medicine to continue the search for additional genetic mutations in patients with RP-related autoimmune diseases and bring science closer to the discovery of a biomarker for RP. The powerful research study, led by Dr. Rashmi Kanagal-Shamanna at MD Anderson, Houston, TX, will study the mechanisms of progression of relapsing polychondritis (RP) to myelodysplastic syndromes (MDS) and other hematological (blood-based) malignancies and will focus on mapping the hematologic dynamics over the evolution of disease using state-of-the-art genetic and transcriptomic approaches.
Dr. Kanagal-Shamanna’s research will be conducted in close collaboration with Dr. David B. Beck, M.D., Ph.D., New York University Grossman School of Medicine, New York, NY, who, with the financial support of the RP Foundation, partnered with the NIH to discover a new autoimmune disease named VEXAS Syndrome in 2020.
“The RP Foundation is pleased to support the exciting RP-related research,” said David Bammert, RP Foundation President. “We are confident that Drs. Kanagal-Shamanna and Beck’s collaborative study will generate a greater understanding of RP and MDS. Our investment in this novel study also represents the RP Foundation’s commitment to leveraging partnerships that continue to build upon our robust research initiatives and fuel discoveries in RP and related autoimmune diseases.”
The study is expected to significantly enhance existing knowledge regarding RP and MDS and will potentially reveal additional insights that lead to the development of novel preventive and therapeutic strategies. The interdisciplinary nature of the research study targeting clinical, cytomorphologic, and genetic components of this disease is designed to improve all aspects of care for patients with RP and related disorders by facilitating early diagnosis and prompt intervention with novel therapeutics.
Relapsing polychondritis (RP) and related disorders (VEXAS syndrome) are adult-onset inflammatory conditions that may be fatal. Some of the prominent clinical symptoms associated with RP include low blood counts and an associated higher risk of progression to hematological (blood-based) malignancies, myelodysplastic syndromes (MDS), and rarely chronic myelomonocytic leukemia or plasma cell neoplasms. The recent discovery of UBA1 mutations in a subset of patients affected by relapsing polychondritis and related conditions (VEXAS syndrome) has resulted in substantial understanding of the genetic etiology of these conditions (Beck et al. N Engl J Med 2020).
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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 isn’t a biomarker to help with the diagnosis of the 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. Learn more about our purpose by visiting Polychondritis.org.
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. Check out our webpage at RaceforRP.org.