Relapsing Polychondritis Foundation

The RP Foundation’s goal is to facilitate awareness, education, and research to improve the quality of life for patients with relapsing polychondritis (RP) and advance a cure for this disease.

The RP Foundation will achieve its goals by developing relationships (with donors and highly skilled, collaborative research scientists), participating in awareness and educational events, and funding research programs.

The RP Foundation has demonstrated its capabilities to develop relationships (with donors and highly skilled, collaborative research scientists), participate in awareness and educational events, and fund research programs.

The RP Foundation made significant investments in collaborative research that helped drive RP and related autoimmune diseases to the forefront of ground-breaking discoveries. The Foundation supported research being conducted at The University of Texas MD Anderson Cancer Center and NYU Grossman School of Medicine to search for genetic markers in patients with RP-related autoimmune disease and bone marrow diseases. This study is exploring the mechanisms of progression of relapsing polychondritis (RP) to myelodysplastic syndromes (MDS) and blood-based malignancies and will map the hematologic changes that take place during the trajectory of disease using state-of-the-art genetic and transcriptomic approaches.

The Foundations investments in the NYU Grossman School of Medicine and NIH VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) Syndrome research continues to advance scientific knowledge and improve patient care. In 2022, VEXAS was deemed the years best advancement in hematology-related diagnoses by the American Society of Hematology. Clinical scientists believe knowledge gained from VEXAS research will potentially improve the classification of blood-based and adult-onset recurrent autoimmune diseases like relapsing polychondritis.

VEXAS Syndrome research also brought several autoimmune diseases closer to the discovery of a biomarker by demonstrating 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 gene.

Two globally renowned healthcare organizations, the International Consensus Classification System (ICC) and the World Health Organization (WHO), added VEXAS to their classification systems for hematological cancers. The ICC listed VEXAS under the spectrum of pre-malignant clonal cytopenias, and the WHO acknowledged the close relationship between systemic inflammation, clonal somatic mutations, and myeloid malignancies based on data from VEXAS with UBA1 mutations and other emerging entities. The inclusion of VEXAS in the classification resources that clinicians use to categorize blood-based cancers is extremely important. It increases awareness of VEXAS and related systemic inflammatory diseases among clinicians and pathologists and promotes a holistic approach to patient care, from diagnosis to post-diagnosis management.

The RP Foundation invested in the next phase of VEXAS research thats searching for additional genetic mutations in patients with autoimmune diseases and is being conducted by a collaborative network of talented researchers in the Inflammatory Disease Genetics Program at NYU Langone and the Relapsing Polychondritis and Autoinflammatory Clinics at the National Institutes of Health (NIH).