Dear Patients, Friends, and Partners,
Relapsing Polychondritis (RP) is often referred to as an “invisible disease” because individuals who have it appear healthy and, despite experiencing debilitating symptoms, often remain undiagnosed for years because clinicians don’t always recognize it.
In 2022, the Relapsing Polychondritis Foundation, Race for RP, and our incredible partners started to make the invisible visible! Together with our talented collaborative research partners, we helped drive RP and related autoimmune diseases to the forefront of ground-breaking scientific discoveries. We also improved patient access to specialized, multi-disciplinary teams of clinicians and fostered a greater understanding of RP among clinicians, scientists, and the broader community.
We recognize the critical role our partners played in supporting the three pillars of our purpose: awareness, education, and research, and are thrilled to share the highlights below. We also recognize the vital need for funding to support the next wave of progress and sustain the important research that’s forging the path to a cure.
By making a tax-deductible gift today at give.polychondritis.org, you’ll help the RP Foundation maintain momentum as we drive the future of RP and related autoimmune research! This holiday season, thanks to the generosity of a matching gift provided by an anonymous donor, your gift will provide twice the impact!
Thank you, in advance, for believing in our purpose and fueling the next wave of research and discoveries!
2022 Accomplishments in Research
Because of your generous support, we fueled collaborative research projects that catalyzed changes in medical classification guidelines and powered progress for patients with RP and related autoimmune diseases. Our most notable research accomplishments include:
- Invested in collaborative 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 will explore 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.
- Supported the “Friends of Patients at NIH RP Fund” which is administered by the NIH and provides funding for travel and lodging to eligible patients traveling to the NIH for treatment.
- In 2020, the RP Foundation supported a collaborative research project conducted by NYU Grossman School of Medicine and the NIH that led to the discovery of a new autoimmune disorder, VEXAS Syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). Patients with VEXAS Syndrome often have clinical symptoms that overlap with RP1,2. In 2022, VEXAS was deemed the “year’s 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 polychondritis3.
- VEXAS Syndrome research 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 gene4.
- Two globally renowned healthcare organizations, the International Consensus Classification System (ICC) and the World Health Organization (WHO), added VEXASto 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.
- Invested in the next phase of VEXAS research that’s 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).
- Assisted in the establishment of the VEXAS Foundation to help provide a resource for VEXAS patients, researchers, and clinicians.
- Supported PURPOSE Biobank which will create a centralized, state-of-the-art collection of clinical and research data so researchers can vastly improve our understanding of relapsing polychondritis and related diseases.
- Created downloadable and printable one-pagers to share even more details about our research initiatives: MD Anderson, Penn RP Fund, VEXAS Discovery, and PURPOSE BioBank.
2022 Accomplishments in Awareness
Thanks to our awareness initiatives and the amazing progress our partners and research investments are fueling, the RP Foundation and Race for RP’s achievements are gaining recognition in the autoimmune community and the public at large. Highlights of our awareness initiatives included:
- Partnered with Race for RP and six internationally recognized motorsports teams to proudly showcase our logo and promote our purpose.
- We launched Full Throttle, a new RP awareness podcast, hosted by Greg Creamer. Full Throttle provides exclusive interviews and insights regarding RP, related autoimmune diseases, and IMSA racing to engage and energize motorsports fans. It also features our collaborative research projects that are advancing clinical knowledge regarding RP and ushering in a new era of hope for patients with RP.
- We were interviewed by CBS Sports during the Nashville Grand Prix which also featured Denise Stefanie, writer and performer of “All In,” singing the National Anthem.
- CBS Sports also provided fantastic coverage of Race for RP during the Ferrari Challenge North America.
- Launched the RP Foundation YouTube Channel
- We ignited communication via social platforms and our eNewsletter to increase awareness and support for the innovative research that we’re investing in.
- As a result of robust communications across all social media channels, we experienced substantial growth in the number of followers, with our eNewsletters demonstrating a 60% open rate (significantly exceeding industry standards).
2022 Accomplishments in Education
The RP Foundation and Race for RP are continually inspired and energized by the courage, perseverance, and strength of those living with RP. Our rapidly expanding network of patients, donors, and researchers provides unique opportunities for identifying, sharing, and discussing the latest RP and related autoimmune disease discoveries. In 2022, we:
- Supported several RP patients, advocates, and researchers who exhibited at this year’s Rare Disease Day at the National Institutes of Health. The exhibits emphasized awareness, partnership, and collaboration.
- Supported RP patient, Melissa Allman, Ph.D.’s scientific poster titled, “It is Due to Stress – But Which Type of Stress?” which was selected for display at the American College of Rheumatology’s (ACR) annual meeting in Philadelphia, PA.
2022 Accomplishments in Fundraising
Our mantra is “Where there’s research, there’s hope.” Fundraising fuels and drives our research initiatives. In 2022, we invested in innovative, engaging ways to raise funds. The highlights include:
- Inaugural RP Warrior 5k Walk. Organized by RP Warrior, Dan Smith, the inaugural 5k Warrior Walk was a tremendous success. From California to Florida and even Canada to Israel, RP Warriors and their supporters showed up in a big way. Twenty-five teams and dozens of individuals participated in the walk, and together, they raised over $25,000 from more than 260 donors to fuel relapsing polychondritis research. Dan’s son designed and sold t-shirts, and the proceeds from the t-shirt sales brought the grand total to over $26,000! The bar has been set high, and we can’t wait for next year’s walk!
- Inaugural eRace for RP. Race for RP partnered with Podium eSports and Monday Night Racing for the Inaugural Simulation eRacing Charity Event. The event was held on the iRacing.com platform at Daytona International Speedway’s Road Course in a two-hour timed endurance race. Thanks to the generosity of a long-standing partner who provided a 3:1 match for gifts received, the sim eRace raised $401,000 to support RP and related autoimmune research.
- New RP Foundation Website. We designed and implemented a new, highly engaging RP Foundation website to increase awareness regarding the bold, purposeful research we’re investing in.
- 300% increase in the amount of donations received by the Foundation in 2022.
Looking Ahead to 2023
We’re incredibly thankful for the RP and related autoimmune disease discoveries and advancements that our partners helped us make in 2022. With your ongoing support, we will continue to be a source of hope and a catalyst for research that will ultimately treat and cure RP.
“Where there’s research, there’s hope!” Help us drive the future of RP and related autoimmune research by making a tax-deductible gift at give.polychondritis.org today! This year, thanks to the generosity of a matching gift provided by an anonymous donor, your gift will have twice the impact! Please make your gift today.
References:
- Koster MJ, Kourelis T, Reichard KK, Kermani TA, Beck DB, Cardona DO, Samec MJ, Mangaonkar AA, Begna KH, Hook CC, Oliveira JL, Nasr SH, Tiong BK, Patnaik MM, Burke MM, Michet CJ Jr, Warrington KJ. Clinical Heterogeneity of the VEXAS Syndrome: A Case Series. Mayo Clin Proc. 2021 Oct;96(10):2653-2659. doi: 10.1016/j.mayocp.2021.06.006. Epub 2021 Sep 3. PMID: 34489099.
- Khitri M-Y, Guedon AF, Georgin-Lavialle S, et al. Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients. RMD Open 2022;8:e002255. doi:10.1136/ rmdopen-2022-002255
- Hasserjian, Robert P. (7 January 2022). “This Year’s Best in Hematology Diagnosis: A New Disease Is Discovered”. The Hematologist. 19 (1). doi:1182/hem.V19.1.2022117. ISSN 1551-8779.
- UBA1 mutations as a frequent driver of Relapsing Polychondritis: https://pubmed.ncbi.nlm.nih.gov/33779074/
