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Trial Title:
Videocapsule Endoscopy in Lynch Syndrome
NCT ID:
NCT05704010
Condition:
Lynch Syndrome
Lynch Syndrome I
Lynch Syndrome II
MLH1 Gene Mutation
MSH2 Gene Mutation
MSH6 Gene Mutation
PMS2 Gene Mutation
Small Bowel Adenocarcinoma
Conditions: Official terms:
Colorectal Neoplasms, Hereditary Nonpolyposis
Lynch Syndrome II
Syndrome
Conditions: Keywords:
Videocapsule
Small bowel
Study type:
Interventional
Study phase:
N/A
Overall status:
Recruiting
Study design:
Allocation:
N/A
Intervention model:
Single Group Assignment
Primary purpose:
Diagnostic
Masking:
None (Open Label)
Intervention:
Intervention type:
Device
Intervention name:
Video capsule endoscopy
Description:
Video capsule endoscopy every 2 years
Arm group label:
Lynch Syndrome
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.
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.
Criteria for eligibility:
Criteria:
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
Gender:
All
Minimum age:
18 Years
Maximum age:
N/A
Healthy volunteers:
Accepts Healthy Volunteers
Locations:
Facility:
Name:
San Raffaele Scientific Institute, Gastroenterology and Gastrointestinal Endoscopy Unit
Address:
City:
Milan
Zip:
20132
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Giulia Martina Cavestro, MD PhD
Email:
cavestro.giuliamartina@hsr.it
Start date:
November 1, 2018
Completion date:
December 31, 2026
Lead sponsor:
Agency:
San Raffaele University
Agency class:
Other
Collaborator:
Agency:
Unita' di Gastroenterologia - Policlinico Universitario di Bari
Agency class:
Other
Collaborator:
Agency:
Unita' di Gastroenterologia - Centro di Riferimento Oncologico di Aviano
Agency class:
Other
Collaborator:
Agency:
Unita' di Gastroenterologia - Istituto Clinico Humanitas, Milano
Agency class:
Other
Source:
San Raffaele University
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05704010