Videocapsule Endoscopy in Lynch Syndrome

April 21, 2026 updated by: Cavestro Giulia Martina MD PhD, San Raffaele University

Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Background Lynch syndrome (LS) is caused by a pathogenic germline defect in one of the mismatch repair genes (MMR), namely MLH1, MSH2/Epcam, MSH6, or PMS2. Such pathogenic defects confer a higher risk of developing not only colorectal cancer but also small bowel cancer (SBC). Patients with LS have a lifetime risk of SMB of 4.2%, with a relative risk of >100, compared to the general population. Moreover, patients with LS may develop SBC at a younger age, compared to SBC in individuals without LS.

The diagnostic standard for SBC is video capsule endoscopy (VCE). This consists in swallowing a pill with a camera inside. The VCE will record the images through the gastrointestinal tract and send them via Bluetooth to a wearable device for roughly 8 hours The capsule is then expelled with feces while the images are stored in a computer for later revision. Today, the data on the efficacy of a screening program for SBC in patients with LS is controversial.

Rationale This register study will collect prospective data on the VCEs done on patients with LS

Objective To estimate the incidence of neoplasia and preneoplastic lesions of the small bowel in patients with LS via VCE

Design Multicentric observational study with the use of approved diagnostic devices. It will not modify the current standard of care. The study design will not mandate obligatory studies of further procedures besides those that are clinically approved.

Population At least 10 subjects/year by each center (400 patients by study completion)

Controindications to VCE

  • Stenosis, obstructions, fistulas (suspected or known)
  • Cardiac defibrillators or cardiac pace-makers.
  • Dysphagia
  • Inability to provide written informed consent.
  • Pregnancy (suspected or known).

Risks of VCE VCE retention is the most dreaded adverse events. The risk may vary between 1.5 and 21%.

Allergic reactions may be possible due to the use of sticky electrodes on the skin.

Study duration 10 years from January 2016.

Confounders To date, not known.

Data management All results will remain confidential. Clinical data may become available at scientific meetings or in published articles, but patient anonymity will always be maintained

Statistics The incidence of neoplastic and preneoplastic lesions of the subjects included in the study will be estimated. The sample size was established on the basis of feasibility (10 subjects enrolled each year for each center in 10 years = 400 patients in total). The expected incidence of small bowel injury is approximately 5%. With 400 subjects it is possible to estimate the incidence with an accuracy of 2% estimated with a 95% confidence interval.

Descriptive statistical variables (mean, standard deviation, median, etc.) will be evaluated on the collected data.

Any relationships between these variables will be evaluated using inferential statistics (t-test, chi-squared, logistic regression analysis, multivariate analysis, etc.). Any relationship with a p-value less than 0.05 will be considered significant.

Ethics The investigators declare that the study will be conducted in accordance with the ethical principles deriving from the Declaration of Helsinki and the current legislation on Observational Studies.

Informed consent. All subjects will be informed of the purpose of the study, of the confidentiality of the personal data, and of the fact that this data may be subject to review, for study-related reasons, by authorized person other than the physician.

It will be emphasized that participation is entirely voluntary and that the patient can refuse further participation in the protocol at any time without affecting the patient's subsequent care. Informed consent will be obtained for all subjects included in the study prior to their inclusion in the present study, in accordance with national and local regulations.

Study Type

Interventional

Enrollment (Estimated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Italy
    • Lombardy
      • Milan, Lombardy, Italy, 20132
        • Recruiting
        • San Raffaele Scientific Institute, Gastroenterology and Gastrointestinal Endoscopy Unit
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Pathogenic germline variant in one of the MMR genes (MLH1, MSH2/Epcam, MSH6, or PMS2).

Exclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Lynch Syndrome
Video capsule endoscopy every 2 years
Device: Video capsule endoscopy
Video capsule endoscopy every 2 years

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Small bowel adenocarcinoma
Time Frame: 10 years
Annual incidence
10 years
Small bowel adenoma
Time Frame: 10 years
Annual incidence
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

San Raffaele University

Collaborators

Humanitas Hospital, Italy
Unita' di Gastroenterologia - Policlinico Universitario di Bari
Unita' di Gastroenterologia - Centro di Riferimento Oncologico di Aviano

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2018

Primary Completion (Estimated)

December 31, 2028

Study Completion (Estimated)

December 31, 2029

Study Registration Dates

First Submitted

January 13, 2023

First Submitted That Met QC Criteria

January 27, 2023

First Posted (Actual)

January 30, 2023

Study Record Updates

Last Update Posted (Actual)

April 22, 2026

Last Update Submitted That Met QC Criteria

April 21, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Lynch&VCE/01/2018

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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