[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lynch-syndrome-i\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lynch-syndrome-i":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,80,107],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":47,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":79},"100570529","lynch-syndrome-x-talk-of-enteral-mucosa-with-immune-system-100570529",false,"NCT06708429","Lynch Syndrome X-Talk of Enteral Mucosa With Immune System","Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome","LYNX-EYE","Inclusion Criteria (for participants with Lynch syndrome):\n\n* Age ≥18 years\n* All sexes eligible\n* Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic\u002Flikely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM\n* Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and\u002For surgery according to clinical practice\n* Fertile patients (both males and females) are eligible\n* Lactating women are eligible\n\nInclusion Criteria (for participants without Lynch syndrome):\n\n* Age ≥18 years\n* All sexes eligible\n* Patients with sporadic colorectal lesions, including colorectal cancer and colorectal adenomas\n* Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain\n* PREMM5 \\\u003C 2.5 \\[PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome\\].\n\nExclusion Criteria (for participants with or without Lynch syndrome):\n\n* Age \\\u003C 18 years;\n* Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease);\n* Patients unable\u002Funwilling to provide consent;\n* Pregnancy","ALL","18 Years",{"count":20,"type":21},300,"ESTIMATED","OBSERVATIONAL","Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM.\n\nDespite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46],"Lynch Syndrome","Lynch Syndrome I","Lynch Syndrome II","Lynch Syndrome I (Site-specific Colonic Cancer)","HNPCC","HNPCC Gene Mutation","Hereditary Cancer Syndrome","Hereditary Cancer","MLH1 Gene Mutation","MLH1 Gene Deletion+Duplication","MLH1 Loss of Expression","MLH1 Gene Inactivation","MSH2 Gene Mutation","MSH2 Gene Deletion+Duplication","MSH2 Loss of Expression","MSH2 Gene Inactivation","MSH6 Gene Mutation","MSH6 Loss of Expression","MSH6 Gene Inactivation","PMS2 Gene Mutation","PMS2 Gene Inactivation","PMS2 Loss of Expression",[48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66],"Colorectal cancer","Endometrial cancer","Lynch syndrome-associated cancer","Surveillance","Cancer surveillance","Immune profile","Immune escape","Mismatch repair deficiency","Microbiota","Liquid biopsy","MicroRNA","Transcriptomic","Frame shift peptides","MLH1","MSH2","EpCAM","MSH6","PMS2","Hair matrix","RECRUITING","2026-04-21",{"date":70,"type":71},"2026-04-24","ACTUAL",{"date":73,"type":71},"2023-06-01",{"date":75,"type":21},"2034-06-01",{"name":77,"class":78},"San Raffaele University","OTHER",5,{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":85,"acronym":4,"eligibilityCriteria":86,"healthyVolunteers":87,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":88,"targetDuration":4,"studyType":90,"phases":91,"briefSummary":93,"conditions":94,"keywords":96,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":99,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":106},"100493350","videocapsule-endoscopy-in-lynch-syndrome-100493350","NCT05704010","Videocapsule Endoscopy in Lynch Syndrome","Role of Videocapsule Endoscopy in Lynch Syndrome: a Multicenter Italian Registry Study","Inclusion Criteria:\n\n* Pathogenic germline variant in one of the MMR genes (MLH1, MSH2\u002FEpcam, MSH6, or PMS2).\n\nExclusion Criteria:\n\n* Patients younger than 18 years of age\n* Patients unwilling or unable to provide informed consent\n* Patients with prior small bowel surgery\n* Patients with a contraindication to VCE",true,{"count":89,"type":21},100,"INTERVENTIONAL",[92],"NA","Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2\u002FEpcam, 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%.\n\nThe 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\n\nRationale: this registry study will collect prospective data from patients with LS undergoing VCE\n\nAim: evaluate the incidence of neoplastic and pre-neoplastic lesions in patients with LS during a VCE-based small bowel cancer screening study\n\nDesign: 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.",[25,26,27,33,37,41,44,95],"Small Bowel Adenocarcinoma",[97,98],"Videocapsule","Small bowel",{"date":100,"type":71},"2026-04-22",{"date":102,"type":71},"2018-11-01",{"date":104,"type":21},"2029-12-31",{"name":77,"class":78},1,{"id":108,"slug":109,"hasResults":11,"nctId":110,"briefTitle":111,"officialTitle":111,"acronym":112,"eligibilityCriteria":113,"healthyVolunteers":87,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":114,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":116,"conditions":117,"keywords":4,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":129,"lastUpdatePostDateStruct":130,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":137},"100627590","liquid-biopsy-and-machine-learning-for-early-colorectal-cancer-adenomas-lynch-cancers-and-residual-disease-detection-100627590","NCT07450612","Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection","BEACON","Inclusion Criteria:\n\n* All individuals included in the study need to have had a colonoscopy at the time of blood sampling.\n* Received standard diagnostic and staging (as necessary) procedures as per local guidelines, and at least one sample was drawn before receiving any curative-intent treatment.\n* Received standard pathological and endoscopic diagnosis and assessment for cohort assignment\n\nExclusion Criteria:\n\n* Lack of informed consent\n* Inflammatory bowel disease",{"count":115,"type":21},1200,"This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers. Additionally, a pre-planned analysis will evaluate the use of this liquid biopsy as a tool for molecular residual disease monitoring purposes.",[118,119,120,121,122,123,124,25,26,27,28,125,126,127,33,37,41,44,128],"Colorectal Cancer","Adenoma Colon","Adenoma Colon Polyp","Colon Adenoma","Colo-rectal Cancer","Colon Disease","Colon Neoplasm","LYN Gene Mutation","Mismatch Repair Deficiency","Mismatch Repair Gene Mutation","EPCAM Gene Mutation","2026-02-27",{"date":131,"type":71},"2026-03-04",{"date":133,"type":71},"2024-01-01",{"date":135,"type":21},"2031-08-15",{"name":77,"class":78},4]