Duodenal Polyposis Classification in FAP

NCT07199127 | Recruiting

• 1 other identifier: IRB# INT-12/18
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 2

Brief Summary

Duodenal cancer is the leading cause of cancer-related mortality in patients with familial adenomatous polyposis (FAP), yet the current Spigelman staging system provides limited predictive accuracy for advanced neoplasia. The DRACO study (Duodenal Risk Assessment in adenomatous polyposis Coli -Oncogene) is a multicenter, STROBE- and CONSORT-compliant cohort study that analyzes upper endoscopies from genetically confirmed FAP patients across independent cohorts to develop, validate, and externally test two multivariable risk models.

Conditions

Duodenum Cancer; Familial Adenomatous Polyposis; Duodenal Polyposis; Ampulla of Vater Adenoma; FAP Gene Mutation; FAP; Duodenal Neoplasms; Duodenal Adenoma; Ampulla of Vater Cancer

Keywords

Spigelman; Duodenal Polyposis

Outcome Measures

Primary Outcomes (1)

• Sensitivity

  True Positivity Rate: the probability of a positive test result, conditioned on the individual truly developing duodenal or ampullary high-grade dysplasia or adenocarcinoma

  Through study completion, on average 5 years

Secondary Outcomes (2)

• Specificity

  Through study completion, on average 5 years

• Proportion of correct predictions (true positives and true negatives) among the total cases (i.e., accuracy)

  Through study completion, on average 5 years

Study Arms (6)

Individuals with duodenal advanced neoplasia (Training cohort)

Individuals who developed biopsy-confirmed duodenal or ampullary high-grade dysplasia (HGD) or adenocarcinoma after the index EGD, within the training cohort (aka, cases)

Diagnostic Test: DRACO

Individuals with duodenal advanced neoplasia (validation cohort)

Individuals who developed biopsy-confirmed duodenal or ampullary high-grade dysplasia (HGD) or adenocarcinoma after the index EGD, within the validation cohort (aka, cases)

Diagnostic Test: DRACO

Individuals with duodenal advanced neoplasia (Testing cohort)

Individuals who developed biopsy-confirmed duodenal or ampullary high-grade dysplasia (HGD) or adenocarcinoma after the index EGD, within the testing cohort (aka, cases)

Diagnostic Test: DRACO

Individuals without duodenal advanced neoplasia (Training cohort)

Individuals who remained free from duodenal or ampullary high-grade dysplasia and adenocarcinoma after the index EGD, within the training cohort (aka, controls)

Diagnostic Test: DRACO

Individuals without duodenal advanced neoplasia (Validation cohort)

Individuals who remained free from duodenal or ampullary high-grade dysplasia and adenocarcinoma after the index EGD, within the validation cohort (aka, controls)

Diagnostic Test: DRACO

Individuals without duodenal advanced neoplasia (Testing cohort)

Individuals who remained free from duodenal or ampullary high-grade dysplasia and adenocarcinoma after the index EGD, within the testing cohort (aka, controls)

Diagnostic Test: DRACO

Interventions

DRACO DIAGNOSTIC_TEST

A novel endoscopic classification to predict the risk of duodenal and ampullary high-grade dysplasia and cancer from baseline esophagogastroduodenoscopy (EGD)

Also known as: Duodenal Risk Assessment in adenomatous polyposis Coli Oncogene

Individuals with duodenal advanced neoplasia (Testing cohort); Individuals with duodenal advanced neoplasia (Training cohort); Individuals with duodenal advanced neoplasia (validation cohort); Individuals without duodenal advanced neoplasia (Testing cohort); Individuals without duodenal advanced neoplasia (Training cohort); Individuals without duodenal advanced neoplasia (Validation cohort)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with familial adenomatous polyposis, defined by a pathogenic/likely pathogenic germline Adenonomatous Polyposis Coli (APC) gene variant, undergoing surveillance for duodenal polyposis using esophagogastroduondeoscopy (EGD)

You may qualify if:

• Confirmed germline diagnosis of FAP, as defined by genetic testing
• Two or more upper gastrointestinal endoscopies
• Complete documentation of all Spigelman classification variables at each endoscopic evaluation

You may not qualify if:

• Histological grading of duodenal polyps incomplete
• Follow-up data were unavailable
• Duodenal surgery before study baseline endoscopy

Sponsors & Collaborators

• Fondazione IRCCS Istituto Nazionale dei Tumori, Milano: lead
• IRCCS Ospedale San Raffaele: collaborator

Study Sites (2)

IRCCS Ospedale San Raffaele

Milan, MI, 20129, Italy

RECRUITING

Fondazione IRCCS Istituto Nazionale dei Tumori

Milan, 20133, Italy

RECRUITING

Related Publications (4)

• Bulow S, Christensen IJ, Hojen H, Bjork J, Elmberg M, Jarvinen H, Lepisto A, Nieuwenhuis M, Vasen H. Duodenal surveillance improves the prognosis after duodenal cancer in familial adenomatous polyposis. Colorectal Dis. 2012 Aug;14(8):947-52. doi: 10.1111/j.1463-1318.2011.02844.x.

  PMID: 21973191 BACKGROUND

• Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Huneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sanchez-Guillen L, Seppala TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Moslein G. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070.

  PMID: 38722804 BACKGROUND

• Mannucci A, Puzzono M, Goel A, Moslein G, Balafas S, Di Serio MS, Cavestro GM. The Spigelman Staging System and the Risk of Duodenal and Papillary Cancer in Familial Adenomatous Polyposis: A Systematic Review and Meta-Analysis. Am J Gastroenterol. 2024 Apr 1;119(4):617-624. doi: 10.14309/ajg.0000000000002688. Epub 2024 Jan 31.

  PMID: 38294150 BACKGROUND

• Karstensen JG, Bulow S, Hojen H, Jelsig AM, Jespersen N, Andersen KK, Wewer MD, Burisch J, Pommergaard HC. Cancer in Patients With Familial Adenomatous Polyposis: A Nationwide Danish Cohort Study With Matched Controls. Gastroenterology. 2023 Sep;165(3):573-581.e3. doi: 10.1053/j.gastro.2023.05.010. Epub 2023 May 16.

  PMID: 37201686 RESULT

MeSH Terms

Conditions

Duodenal Neoplasms; Adenomatous Polyposis Coli

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Duodenal Diseases; Intestinal Diseases; Adenomatous Polyps; Adenoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Colorectal Neoplasms; Neoplastic Syndromes, Hereditary; Colonic Diseases; Intestinal Polyposis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Marco Vitellaro, M.D.

  Fondazione IRCCS Istituto Nazionale dei Tumori, Milano

  STUDY CHAIR

Central Study Contacts

Marco Vitellaro, M.D.

CONTACT

+393480197920; marco.vitellaro@istitutotumori.mi.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 22, 2025
• First Posted: September 30, 2025
• Study Start: February 2, 2018
• Primary Completion: August 25, 2025
• Study Completion (Estimated): January 15, 2030
• Last Updated: September 30, 2025

Record last verified: 2025-09

Locations

IT (2)