Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

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07:56 min

June 10th, 2022

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Senne Cuyx¹^,² , Anabela S. Ramalho¹ , Nikky Corthout³^,⁴ , Steffen Fieuws⁵ , Eva Fürstová⁶ , Kaline Arnauts⁷^,⁸ , Marc Ferrante⁷^,⁹ , Catherine Verfaillie⁸ , Sebastian Munck³^,⁴ , Mieke Boon¹^,² , Marijke Proesmans¹^,² , Lieven Dupont¹⁰^,¹¹ , Kris De Boeck¹^,² , François Vermeulen¹^,²

¹Department of Development and Regeneration, Woman and Child Unit, CF research lab, KU Leuven, ²Department of Pediatrics, Pediatric Pulmonology, University Hospitals Leuven, ³VIB Bio Imaging Core, VIB-KU Leuven Center for Brain & Disease Research, ⁴Department for Neuroscience, KU Leuven, ⁵Interuniversity Center for Biostatistics and Statistical Bioinformatics, University of Leuven and University of Hasselt, ⁶Department of Pediatrics, 2<sup>nd</sup> Faculty of Medicine, Charles University and Motol University Hospital, ⁷Department of Chronic Diseases and Metabolism (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, ⁸Department of Development and Regeneration, Stem Cell Institute Leuven (SCIL), KU Leuven, ⁹Department of Gastroenterology and Hepatology, University Hospitals Leuven, KU Leuven, ¹⁰Department of Chronic Diseases, Metabolism and Ageing; Pneumology, KU Leuven, ¹¹Department of Respiratory Diseases, University Hospitals Leuven

This protocol describes rectal organoid morphology analysis (ROMA), a novel diagnostic assay for cystic fibrosis (CF). Morphological characteristics, namely the roundness (circularity index, CI) and the presence of a lumen (intensity ratio, IR), are a measure of CFTR function. Analysis of 189 subjects showed perfect discrimination between CF and non-CF.