Exploring genetic causes of duodenal polyposis using healthy volunteer
Research type
Research Study
Full title
Using 3D organoid models to explore the genetic causes of duodenal polyposis by comparing affected patients with healthy volunteers
IRAS ID
268541
Contact name
Laura Thomas
Contact email
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Patients with the inherited cancer predisposition syndromes FAP (familial adenomatous polyposis) and MAP (MUTYH associated polyposis) are at risk of developing polyps and cancer in their small and large bowel (colon and duodenum). Duodenal cancer has become the most common cause of FAP associated death in patients who have had prophylactic colectomy to prevent colorectal cancer. Understanding of the genetic causes of polyp development and the natural history of duodenal polyposis is limited in both FAP and MAP.\n\nThe aim of this research study is to derive and establish 3D organoid models of normal duodenum from patients not affected by polyposis (healthy control group). We will use these models to investigate the mechanisms of polyp and cancer development in sporadic settings and in the genetic syndromes of FAP and MAP. We will investigate genetic factors, inherited and somatic, which are associated with growth and progression of duodenal adenomas to cancer in MAP and FAP, by comparing them to samples of patients unaffected by polyposis. \n\nWe wil recruit individuals undergoing gastrointestinal screening who are not affected by polyps in their duodenum and stomach and do not have any family history of bowel cancer. Eligible patients for this study will be recruited prior to their endoscopy. Samples from patients who have consented to the study and who meet the eligibility criteria will be used to establish a control baseline for comparison to samples from patients affected with polyposis and a genetic diagnosis of FAP or MAP. Any patients who are diagnosed with inflammation or polyps as outlined in the exclusion criteria during their endoscopy will be removed from the study.
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
19/YH/0310
Date of REC Opinion
6 Sep 2019
REC opinion
Favourable Opinion