Lynch SyndromeNCT05704010
Videocapsule Endoscopy in Lynch Syndrome
A study testing Video capsule endoscopy in people with Lynch Syndrome and Lynch Syndrome I, run by San Raffaele University at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II
- What is being tested?
- Video capsule endoscopy
- Type of treatment
- Pill or oral medicine, Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteItaly
- Study dates
- 1 Nov 2018to 31 Dec 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Pathogenic germline variant in one of the MMR genes (MLH1, MSH2/Epcam, MSH6, or PMS2).
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
San Raffaele Scientific Institute, Gastroenterology and Gastrointestinal Endoscopy Unit
Milan, Lombardy, 20132
Giulia Martina Cavestro, MD PhD, cavestro.giuliamartina@hsr.it
About this study
Official title: 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
Read more
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.
Read the 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.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation, MSH2 Gene Mutation, MSH6 Gene Mutation
- Being tested
- Video capsule endoscopy
- Keywords
- Videocapsule, Small bowel
- Medical subject headings
- Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch Syndrome II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Video capsule endoscopyDevice
Video capsule endoscopy every 2 years
| Study group | Role | What they receive |
|---|---|---|
| Lynch Syndrome | Experimental | Video capsule endoscopy every 2 years Receives: Device: Video capsule endoscopy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Small bowel adenocarcinoma
Annual incidence
Measured: 10 years
Small bowel adenoma
Annual incidence
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jan 2023
- Study start1 Nov 2018
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Lynch SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- San Raffaele University
- Sponsor type
- University, hospital or other
- Collaborators
- Unita' di Gastroenterologia - Policlinico Universitario di Bari, Centro di Riferimento Oncologico - Aviano, Humanitas Hospital, Italy
- Responsible party
- Principal investigator, Cavestro Giulia Martina MD PhD, San Raffaele University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05704010
- Sponsor's protocol ID
- Lynch&VCE/01/2018
- Status last verified
- Apr 2026
- First submitted
- 13 Jan 2023
- Last updated
- 22 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 19659756Koornstra 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.
PubMed 19341971Koornstra 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.
PubMed 18760246ten 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.
PubMed 17409122Rodriguez-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.
PubMed 9669805Haanstra 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.
PubMed 25209657Saurin 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.
PubMed 20821360
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study
- ClinicalTrials.gov ID
- NCT05704010
- Acronym / sponsor ID
- Lynch&VCE/01/2018
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation, MSH2 Gene Mutation, MSH6 Gene Mutation
- Keywords
- Videocapsule, Small bowel
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- San Raffaele UniversityUniversity, hospital or other
- Collaborators
- Unita' di Gastroenterologia - Policlinico Universitario di Bari, Centro di Riferimento Oncologico - Aviano, Humanitas Hospital, Italy
- Study start
- 1 Nov 2018 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2029 (estimated)
- First posted
- 30 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Lynch Syndrome | Experimental | Device: Video capsule endoscopyVideo capsule endoscopy every 2 years |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- Pathogenic germline variant in one of the MMR genes (MLH1, MSH2/Epcam, MSH6, or PMS2).
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Video capsule endoscopyVideo capsule endoscopy every 2 years | Device | Lynch Syndrome |
Primary outcome
Small bowel adenocarcinoma
Time frame: 10 years
Annual incidence
Small bowel adenoma
Time frame: 10 years
Annual incidence
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2026.
- Background: PubMed 19659756Lynch 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.
- Background: PubMed 19341971Koornstra 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.
- Background: PubMed 18760246Koornstra 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.
- Background: PubMed 17409122ten 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.
- Background: PubMed 9669805Rodriguez-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.
- Background: PubMed 25209657Haanstra 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.
- Background: PubMed 20821360Saurin 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Video capsule endoscopy in people with Lynch Syndrome and Lynch Syndrome I, run by San Raffaele University at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Giulia Martina Cavestro, MD PhD (+390226437217, cavestro.giuliamartina@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Small bowel adenocarcinoma (time frame: 10 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05704010, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2026.