Non-invasive Blood Test for Diagnosing Crohn's Disease and Ulcerative Colitis

Diagnosis and sub-typing of inflammatory bowel disease (IBD) subsets, such as Crohn's disease (CD) and ulcerative colitis (UC), often require the use of repeated, invasive, and expensive endoscopy procedures, which are not without risk. Furthermore, 10–20% of patients with indeterminate colitis are misdiagnosed because it is difficult to differentiate CD from UC when disease is confined to the colon, but each condition benefits from distinct therapeutic approaches.

Researchers at Stanford have developed a non-invasive method, based on the identification of novel immune signatures in the blood, for diagnosing CD or UC in patients with IBD. 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. The blood-based diagnostic signatures are non-invasive, low risk, cost-effective, and highly accurate for differentiating Crohn's disease from ulcerative colitis, including the challenging Crohn's disease confined to the colon from ulcerative colitis.

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Stage of Development: Proof of Concept

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.