PITTSBURGH – The Allegheny Health Network (AHN) Autoimmunity Institute, in partnership with the Relapsing Polychondritis Foundation, today announced that it has launched a nationwide, first-of-its-kind study, known as ‘Patients’ Universal Relapsing Polychondritis Open Specimen Endeavor’ (PURPOSE).
Led by AHN, PURPOSE is an unprecedented effort to create a biospecimen repository, known as a biobank, including clinical data and blood samples from patients across the country who have been diagnosed with relapsing polychondritis (RP). Once enough specimens are collected, leading researchers at the AHN Autoimmunity Institute and investigators nationwide – and eventually around the world – will have access to the information as part of the collective effort to advance diagnostic accuracy, monitoring and treatment of relapsing polychondritis and other autoimmune diseases.
Relapsing polychondritis (RP) is a rare autoimmune disease type that affects multiple organ systems, causing inflammation most commonly of the ears, nose, joints and airways. It can also affect the eyes, skin and heart, as well as the neurological, vestibular and vascular systems. While its incidence is rare, impacting fewer than 5,000 people in the U.S., many believe it is underdiagnosed given there is no diagnostic test for RP.
Without an accurate diagnosis, needed treatments may be delayed, increasing the likelihood of long-term complications, says Joseph Ahearn, MD, the study’s principal investigator and chair of the AHN Autoimmunity Institute.
“The key to developing a laboratory test that detects RP is the discovery of informative RP biomarkers, or biological molecules in the blood that reveal abnormal processes and simplify diagnosis,” said Dr. Ahearn. “Along with our longtime partners at the Relapsing Polychondritis Foundation, we are so pleased to be leading this charge to make breakthrough biomarker discoveries through the collection of biological samples from patients who are living with RP.”
Physician-scientists within the Autoimmunity Institute have been highly successful in the commercialization of laboratory tests for the diagnosis, monitoring and prognosis of autoimmune diseases. Dr. Ahearn and Susan Manzi, MD, also of the Autoimmunity Institute, helped design Avise-SLE™– a blood test to help clinicians diagnose lupus with greater ease and accuracy. Avise-SLE, which became commercially available in 2012, uses one blood sample from a patient to check for five distinct biomarkers that help to rule-in the diagnosis of systemic lupus erythematosus while ruling out other rheumatic diseases.
“If we can uncover answers for one condition, we know these insights may have a ripple effect – propelling research forward across the entire spectrum of autoimmunity. This aptly named project offers promise not just for patients with RP, but for all people living with autoimmune diseases,” said Dr. Manzi, chair of the AHN Medicine Institute, director of the AHN Autoimmunity Institute’s Lupus Center of Excellence and medical director for the Lupus Foundation of America’s board of directors.
PURPOSE offers a new model for research in that participating patients are engaged directly by AHN versus having to be connected through their physician or health system. According to Dr. Ahearn, this concept of reaching patients where they live was accelerated by the COVID-19 pandemic, given the increase in use of telemedicine. He says this direct-to-patient research concept will initially be employed to study RP, with plans to expand to lupus and other autoimmune diseases.
Patients who have a diagnosis of relapsing polychondritis, are between the ages of 18-90, and are interested in participating should send an email to PURPOSE@ahn.org. A video visit will be scheduled with an AHN research team member to discuss the study and learn more about participation. Patients will next receive a blood collection kit in the mail and may opt to have their sample drawn either at home or at a nearby collection site. Samples will be sent directly to the PURPOSE biobank at the AHN Autoimmunity Institute. Participation is free, including no charge to the patient or their insurance provider.
“This project correlates with two of the RP Foundation’s goals; empowering patients by providing them with the opportunity to actively contribute to RP-focused research and supporting clinical researchers by supplying them with valuable biological samples,” said Michael Linn, director and vice chair of the RP Foundation and longtime advocate for autoimmune disease awareness, education and research. “By partnering with the PURPOSE biobank project, we hope to advance our efforts to forge the path to a cure by fueling groundbreaking autoimmune disease discoveries.”
The AHN Autoimmunity Institute, founded in 2018, offers in-depth appointments during which patients often see multiple specialists during one visit. The Institute has been enthusiastically embraced by health care providers and patients who have traveled from more than 40 states, including Alaska and Hawaii. To learn more, visit www.ahn.org/autoimmunity.
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About the RP Foundation
The RP Foundation is a non-profit organization that invests in RP focused research, education and awareness programs with the goal of improving the care of those affected by relapsing polychondritis and related autoimmune diseases. Learn more at www.polychondritis.org.
