Videocapsule Endoscopy in Lynch Syndrome
Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study
1 other identifier
interventional
100
1 country
1
Brief Summary
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2. These pathogenic variants confer a higher risk of developing colorectal and other cancers, including small bowel cancer. The risk of developing a small bowel adenocarcinoma is about 100 times higher compared to individuals without Lynch syndrome, and the lifetime risk of small bowel cancer is estimated at 4,2%. The diagnosis of a small bowel cancer depends on videocapsule endoscopy (VCE). This device is swalled so that it can record images of the small bowel, which are then stored on a wearable device for about 8 hours. The capsule is then expelled in the feces while the images are transferred to a computer to be analysed. To date, there is conflicting evidence on the efficacy of small bowel cancer screening with VCE Rationale: this registry study will collect prospective data from patients with LS undergoing VCE Aim: evaluate the incidence of neoplastic and pre-neoplastic lesions in patients with LS during a VCE-based small bowel cancer screening study Design: this is a multicentric, observational study that analyzes data from diagnostic techniques already approved. Patients will not undergo diagnostic procedures beyond what would be recommended by clinical practice.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Nov 2018
Longer than P75 for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
November 1, 2018
CompletedFirst Submitted
Initial submission to the registry
January 13, 2023
CompletedFirst Posted
Study publicly available on registry
January 30, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2029
April 22, 2026
April 1, 2026
10.2 years
January 13, 2023
April 21, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Small bowel adenocarcinoma
Annual incidence
10 years
Small bowel adenoma
Annual incidence
10 years
Study Arms (1)
Lynch Syndrome
EXPERIMENTALVideo capsule endoscopy every 2 years
Interventions
Eligibility Criteria
You may qualify if:
- Pathogenic germline variant in one of the MMR genes (MLH1, MSH2/Epcam, MSH6, or PMS2).
You may not qualify if:
- Patients younger than 18 years of age
- Patients unwilling or unable to provide informed consent
- Patients with prior small bowel surgery
- Patients with a contraindication to VCE
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
San Raffaele Scientific Institute, Gastroenterology and Gastrointestinal Endoscopy Unit
Milan, Lombardy, 20132, Italy
Related Publications (7)
Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009 Jul;76(1):1-18. doi: 10.1111/j.1399-0004.2009.01230.x.
PMID: 19659756BACKGROUNDKoornstra JJ, Mourits MJ, Sijmons RH, Leliveld AM, Hollema H, Kleibeuker JH. Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncol. 2009 Apr;10(4):400-8. doi: 10.1016/S1470-2045(09)70041-5.
PMID: 19341971BACKGROUNDKoornstra JJ, Kleibeuker JH, Vasen HF. Small-bowel cancer in Lynch syndrome: is it time for surveillance? Lancet Oncol. 2008 Sep;9(9):901-5. doi: 10.1016/S1470-2045(08)70232-8.
PMID: 18760246BACKGROUNDten Kate GL, Kleibeuker JH, Nagengast FM, Craanen M, Cats A, Menko FH, Vasen HF. Is surveillance of the small bowel indicated for Lynch syndrome families? Gut. 2007 Sep;56(9):1198-201. doi: 10.1136/gut.2006.118299. Epub 2007 Apr 4.
PMID: 17409122BACKGROUNDRodriguez-Bigas MA, Vasen HF, Lynch HT, Watson P, Myrhoj T, Jarvinen HJ, Mecklin JP, Macrae F, St John DJ, Bertario L, Fidalgo P, Madlensky L, Rozen P. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer. 1998 Jul 15;83(2):240-4. doi: 10.1002/(sici)1097-0142(19980715)83:23.0.co;2-u.
PMID: 9669805BACKGROUNDHaanstra JF, Al-Toma A, Dekker E, Vanhoutvin SA, Nagengast FM, Mathus-Vliegen EM, van Leerdam ME, de Vos tot Nederveen Cappel WH, Sanduleanu S, Veenendaal RA, Cats A, Vasen HF, Kleibeuker JH, Koornstra JJ. Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy. Gut. 2015 Oct;64(10):1578-83. doi: 10.1136/gutjnl-2014-307348. Epub 2014 Sep 10.
PMID: 25209657BACKGROUNDSaurin JC, Pilleul F, Soussan EB, Maniere T, D'Halluin PN, Gaudric M, Cellier C, Heresbach D, Gaudin JL; Capsule Commission of the French Society of Digestive Endoscopy (SFED). Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome. Endoscopy. 2010 Dec;42(12):1057-62. doi: 10.1055/s-0030-1255742. Epub 2010 Sep 6.
PMID: 20821360BACKGROUND
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Prof Cavestro Giulia Martina
Study Record Dates
First Submitted
January 13, 2023
First Posted
January 30, 2023
Study Start
November 1, 2018
Primary Completion (Estimated)
December 31, 2028
Study Completion (Estimated)
December 31, 2029
Last Updated
April 22, 2026
Record last verified: 2026-04