Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 100
- Locations
- 2
- Primary Endpoint
- Small bowel adenoma
Study Overview
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.
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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
Arms & Interventions
Lynch Syndrome
Video capsule endoscopy every 2 years
Intervention: Video capsule endoscopy (Device)
Outcomes
Primary Outcomes
Small bowel adenoma
Time Frame: 10 years
Annual incidence
Small bowel adenocarcinoma
Time Frame: 10 years
Annual incidence
Secondary Outcomes
No secondary outcomes reported
Investigators
Cavestro Giulia Martina MD PhD
Prof Cavestro Giulia Martina
San Raffaele University