Lynch Syndrome Clinical Trial
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 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.
Status | Recruiting |
Enrollment | 100 |
Est. completion date | December 31, 2026 |
Est. primary completion date | December 31, 2025 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Years and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
Italy | San Raffaele Scientific Institute, Gastroenterology and Gastrointestinal Endoscopy Unit | Milan | Lombardia |
Lead Sponsor | Collaborator |
---|---|
San Raffaele University | Unita' di Gastroenterologia - Centro di Riferimento Oncologico di Aviano, Unita' di Gastroenterologia - Istituto Clinico Humanitas, Milano, Unita' di Gastroenterologia - Policlinico Universitario di Bari |
Italy,
Haanstra 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. — View Citation
Koornstra 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. — View Citation
Koornstra 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. — View Citation
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. — View Citation
Rodriguez-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. — View Citation
Saurin 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. — View Citation
ten 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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Small bowel adenocarcinoma | Annual incidence | 10 years | |
Primary | Small bowel adenoma | Annual incidence | 10 years |
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