Non-invasive blood test for diagnosing Crohn's disease and ulcerative colitis

Researchers at Stanford have developed a non-invasive method, based on the identification of novel immune signatures in the blood, for diagnosing Crohn's disease (CD) or ulcerative colitis (UC) in patients with inflammatory bowel disease (IBD). This diagnosis has conventionally relied on invasive, expensive and risky endoscopic procedures. Misdiagnosis and delayed diagnosis due to time required for endoscopy and histopathology analysis of biopsies remain serious problems that delay optimal treatment representing a critical unmet need. Earlier treatment leads to better outcomes, and treatment for patients with active disease is frequently delayed by the time required for differentiation of CD versus UC by these invasive and costly procedures. In contrast, the new method may be implemented easily on existing equipment using a single fresh or frozen blood specimen, potentially enabling earlier and more definitive diagnosis, as well as with minor adaptations better monitoring and precision treatment of IBD patients.

Figure:

Figure description: Circulating leukocytes distinguish Crohn's disease (CD) and ulcerative colitis (UC). A) Schematic of the study conducted. Blood was drawn from study subjects and peripheral blood mononuclear cells (PBMCs) were isolated. B) Samples were analyzed by mass cytometry (CyTOF) or flow cytometry for independent validation. C) The discriminatory performance of blood markers was compared to standard-of-care colonoscopy, and diagnostic models were optimized. Adapted from Rubin et al., Nature Communications, 2019.

Stage of Development
The researchers have identified several blood-based signatures that differentiate CD from UC, and most importantly perform similarly to the standard-of-care endoscopy/colonoscopy for patients who have active disease – the most significant clinical unmet need. They have developed the diagnostic markers on a training patient cohort using mass cytometry (CyTOF) and validated the discriminatory performance on an independent validation patient cohort dataset using conventional clinical flow cytometry. They continue to study the markers on additional patients and optimize the diagnostic model to differentiate other clinically-relevant subtypes of IBD and predict therapeutic response to improve precision medicine in IBD and save patients and the healthcare system time, cost and adverse effects.