[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"bmpr1a-gene-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:bmpr1a-gene-mutation":44},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,66],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":49,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":59,"completionDateStruct":61,"leadSponsor":63,"locationsCount":65},"100471529","an-intervention-to-increase-genetic-testing-in-families-who-may-share-a-gene-mutation-related-to-cancer-risk-and-an-intervention-to-help-patients-and-their-primary-care-providers-stay-up-to-date-about-uncertain-genetic-test-results-100471529",false,"NCT05420064","An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results","Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling: Effective Familial OutReach Via Tele-genetics (EfFORT) Trial & Supporting Test Result Interpretation and Variant Education (STRIVE) Trial","Inclusion Criteria:\n\nEfFORT Trial Probands\n\n* Current MSK patient\n* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months (or within the last year for the de-identified non-randomized control probands)\n* 25 years of age or older\n* Self-reported \"very well\" comprehension of written and verbal English language or Spanish language\n* Has at least one ARR who meets criteria for study enrollment (see below)\n* First in the family to test positive for PV at MSK in any of the following cancer susceptibility genes, or an ARR of an MSK proband who converted to the proband role:\n\nAPC I1307K, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDKN2A (P16), CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, BAP1, DICER1, FH, FLCN, HOXB13, KIT, MAX, MEN1, MET, MITF, PTCH1, RAD51B, RET, SDHB, SDHC, SDHD, STK11, SUFU, TMEM127, TSC1, TSC2, VHL\n\nPrincipal Investigator discretion will be used to determine whether specific variants within the above genes meet a clinical actionability threshold to warrant familial genetic testing.\n\nEfFORT Trial At-Risk Relatives (ARRs):\n\n* Biological first-, second-, or third- degree relative of enrolled MSK proband\n* 25 years of age or older\n* Resides within the United States\n* Self-reported medical insurance which can be in or out of network with MSK\n* Self-reported \"very well\" comprehension of written and verbal English language\n\nSTRIVE Trial VUS Patients\n\n* Current MSK patient\n* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months\n* 25 years of age or older\n* Self-reported \"very well\" comprehension of written and verbal English language or Spanish language\n* Has a VUS identified in any of the following cancer predisposition genes:\n\nAPC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (P16), CHEK2, CTNNA1, DICER1, ELOC, EPCAM, FH, FLCN, GREM1, HOXB13, KEAP1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TERT, TMEM127, TP53, TSC1, TSC2, VHL\n\nSTRIVE Trial PCP Providers:\n\n* Designated healthcare provider for an enrolled VUS patient\n* Resides within the United States\n\nExclusion Criteria:\n\nEfFORT Trial Probands\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)\n* Does not have an email address\n* Has enrolled in the STRIVE trial\n\nEfFORT Trial At-Risk Relatives (ARRs):\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account\n* Has previously undergone genetic testing for the familial PV\n* Does not have an email address\n* Has opted out of study contact\n\nSTRIVE Trial VUS Patients\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)\n* Does not have an email address\n* Has enrolled in the EfFORT trial\n\nSTRIVE Trial PCP Providers\n\n* Contact information not available",true,"ALL","25 Years",{"count":20,"type":21},1000,"ESTIMATED","INTERVENTIONAL",[24],"NA","The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a \"variant of uncertain significance\") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing.\"",[27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48],"BRCA1 Mutation","POLD1 Gene Mutation","CDKN2A Mutation","BRCA2 Mutation","POLE Gene Mutation","APC Gene Mutation","ATM Gene Mutation","MLH1 Gene Mutation","BARD1 Gene Mutation","MSH2 Gene Mutation","BRIP1 Gene Mutation","MSH6 Gene Mutation","CHEK2 Gene Mutation","PMS2 Gene Mutation","PALB2 Gene Mutation","EPCAM Gene Mutation","RAD51C Gene Mutation","BMPR1A Gene Mutation","RAD51D Gene Mutation","SMAD4","PTEN Gene Mutation","GREM1",[50,51,52,53],"EfFORT","Memorial Sloan Kettering Cancer Center","Genetic Testing","22-023","RECRUITING","2025-11-10",{"date":57,"type":58},"2025-11-12","ACTUAL",{"date":60,"type":58},"2022-12-01",{"date":62,"type":21},"2026-11-30",{"name":51,"class":64},"OTHER",8,{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":16,"sex":17,"minAge":74,"maxAge":4,"enrollmentInfo":75,"targetDuration":4,"studyType":22,"phases":77,"briefSummary":78,"conditions":79,"keywords":4,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":97},"100570811","video-capsule-examination-in-patients-with-lynch-syndrome-100570811","NCT06712095","Video Capsule Examination in Patients With Lynch Syndrome","Video Capsule Examination in Patients With Lynch and Other Cancer-predisposition Syndromes - a Proof-of-concept Study for Obtaining Data to Support the Development of Machine Learning Algorithms to Detect Early Cancers","PILLCAM","Inclusion Criteria:\n\n* Patients over the age of 18 years old with no active cancer\n* No previous resection of the colon and\u002For rectum\n* Carriers of a pathogenic\u002Flikely pathogenic variant in any of the following cancer-predisposition genes: Lynch syndrome (MLH1, MSH2, MSH6, PMS2), APC (FAP syndrome); biallelic MUTYH; STK11 (Peutz-Jeghers syndrome); PTEN, CDH1, CHEK2, TP53, BMPR1A and SMAD4 (Juvenile polyposis syndrome)\n* Able to consent to the study and undergo colonoscopy.\n\nExclusion Criteria:\n\n* Extensive surgery which poses a high risk of video-capsule blockage or narrowing of the bowel due to extensive tumour. Extensive surgery implies any removal of large portions of the small or large bowel that might cause a narrowing (stricture) in the digestive tract.\n* Previous irradiation to abdomen or pelvis (risk for small bowel obstruction)\n* Carriers of a variant associated with reduced penetrance (in the view of a geneticist) or a variant of uncertain significance.\n* Patients with a PS of 3 or 4 and\u002For mobility issues\n* Pregnancy\n* Pacemaker or internal electro-medical device (artificial heart valve, cochlear implant or an internal electromedical device).\n* Insulin-dependent diabetes\n* Patients who require deep sedation for colonoscopy","18 Years",{"count":76,"type":21},25,[24],"Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years. An alternative method, namely the colon capsule, has been proposed, however this investigation is time consuming for the clinician and the images require up to one hour (30-60 minutes) reading to issue a result. The investigators propose to obtain images from paired colonoscopies and colon capsules with the purpose of developing an AI algorithm which could aid the clinicians in reading the colon and expand access to this investigation.\n\nThe main aim of the study is to determine whether it is possible to obtain usable paired images from patients with Lynch and other cancer predisposition syndromes. This will depend on the willingness of the patients to take part in the study and the technical ability of obtaining data from paired images of colonoscopies and colon capsule.\n\nAt recruitment, participants will undergo a colon capsule investigation, followed by a routine colonoscopy as per their normal standard of care. Paired endoscopic images from colonoscopies and colon capsules will be collected and anonymised data will be accessed by the bioinformatician for analysis.\n\nIf the study will be successful in reaching the primary endpoint, further trials will be opened, allowing for a larger population to be included and to obtain more robust data, which eventually can lead to validated AI algorithms and application of computer-aided video-capsules examination as a screening tool in at-risk population.",[80,81,82,83,84,85,86,39,44,87],"Lynch Syndrome","Li Fraumeni Syndrome","PTEN Hamartoma Syndrome","FAP","MUTYH Biallelic Mutation","STK11 Mutation","CDH1 Gene Mutation","SMAD4 Gene Mutation","2024-12-03",{"date":90,"type":58},"2024-12-05",{"date":92,"type":58},"2024-03-04",{"date":94,"type":21},"2025-10-31",{"name":96,"class":64},"Royal Marsden NHS Foundation Trust",1]