WS04.06 Validation of rectal organoid morphology analysis (ROMA) as a novel physiological CFTR assay for diagnosis of cystic fibrosis

Abstract

Objectives: When a diagnosis of CF remains inconclusive (intermediate sweat chloride concentration (SCC) and inconclusive genetics), physiological CFTR assays are the next step in the diagnostic algorithm. Nasal potential difference and intestinal current measurement are however not readily available and not feasible at all ages. We propose rectal organoid morphology analysis (ROMA) as a novel diagnostic assay. ROMA quantifies morphological differences between patient-derived rectal organoids (PDRO) from subjects with CF (no visible lumen, irregular shape) and without CF (visible lumen, round shape).