Unlocking the Mystery at AHN Autoimmunity Institute

Credit: Allegheny Health Network

The Allegheny Health Network Autoimmunity Institute, in partnership with the nonprofit Relapsing Polychondritis Foundation, 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 diagnosed with relapsing polychondritis (RP).

“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. Joseph Ahearn, MD, the study’s principal investigator and chair of the AHN Autoimmunity Institute.

“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.”

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 RP and other autoimmune diseases.

Accurate diagnosis to accelerate treatment

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 US, 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,” Ahearn said.

Pioneers in autoimmunity

The AHN Autoimmunity Institute, founded in 2018, offers in-depth appointments during which patients often see multiple specialists during one visit. The institute is a referral source for physicians across the country, as patients have traveled from more than 40 states to receive the care and expertise.

Physician-scientists within the Autoimmunity Institute have been extraordinarily successful in the commercialization of laboratory tests for the diagnosis, monitoring, and prognosis of autoimmune diseases.

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.

A new model for patient-centered research

PURPOSE offers a new model for research in that participating patients are engaged directly by AHN versus having physicians providing the connection. According to Dr. Ahearn, the COVID-19 pandemic accelerated this concept of reaching patients where they live, given the increase in the 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 RP, are between the ages of 18 and 90, and are interested in participating should send an email to PURPOSE@ahn.org. AHN will schedule a video visit with the patient and 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.”

If you have a patient interested in participating in the PURPOSE trial, have them email PURPOSE@ahn.org.