RT Journal Article
SR Electronic
T1 Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 1146
OP 1149
DO 10.1136/thoraxjnl-2020-216368
VO 76
IS 11
A1 Cuyx, Senne
A1 Ramalho, Anabela Santo
A1 Corthout, Nikky
A1 Fieuws, Steffen
A1 Fürstová, Eva
A1 Arnauts, Kaline
A1 Ferrante, Marc
A1 Verfaillie, Catherine
A1 Munck, Sebastian
A1 Boon, Mieke
A1 Proesmans, Marijke
A1 Dupont, Lieven
A1 De Boeck, Kris
A1 Vermeulen, François
YR 2021
UL http://thorax.bmj.com/content/76/11/1146.abstract
AB Diagnosing cystic fibrosis (CF) when sweat chloride is not in the CF range and less than 2 disease-causing CFTR mutations are found requires physiological CFTR assays, which are not always feasible or available. We developed a new physiological CFTR assay based on the morphological differences between rectal organoids from subjects with and without CF. In organoids from 167 subjects with and 22 without CF, two parameters derived from a semi-automated image analysis protocol (rectal organoid morphology analysis, ROMA) fully discriminated CF subjects with two disease-causing mutations from non-CF subjects (p<0.001). ROMA, feasible at all ages, can be centralised to improve standardisation.