[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"peutz-jeghers-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:peutz-jeghers-syndrome":60},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,92,118],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":69,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631",false,"NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.","ALL",{"count":18,"type":19},1500,"ESTIMATED","OBSERVATIONAL","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.\n\nWhile it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.\n\nPRIMARY OBJECTIVE:\n\n* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Fanconi Anemia","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Li-Fraumeni Syndrome","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[70,71,72,73,74,75,76,77,78],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","RECRUITING","2026-06-15",{"date":82,"type":83},"2026-06-17","ACTUAL",{"date":85,"type":83},"2017-04-06",{"date":87,"type":19},"2037-03-31",{"name":89,"class":90},"St. Jude Children's Research Hospital","OTHER",1,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":4,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":16,"minAge":99,"maxAge":4,"enrollmentInfo":100,"targetDuration":4,"studyType":102,"phases":103,"briefSummary":105,"conditions":106,"keywords":4,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":91},"100571613","celecoxib-for-prevention-of-progression-in-peutz-jeghers-syndrome-100571613","NCT06722534","Celecoxib for Prevention of Progression in Peutz-Jeghers Syndrome","Celecoxib for Prevention of Progression in Peutz-Jeghers Syndrome: A Double-blind, Randomized, Placebo-controlled Trial","Inclusion Criteria:\n\n\\- Patients with PJS ≥ 8 years of age\n\nDiagnostic criteria for PJS: meeting any of the following criteria or presence of an STK11 gene variant:\n\n1. Two or more histologically confirmed PJS hamartomatous polyps;\n2. Any number of PJS polyps detected in an individual with a family history of PJS in close relative(s);\n3. Characteristic mucocutaneous pigmentation in an individual with a family history of PJS in close relative(s);\n4. Any number of PJS polyps in an individual with characteristic mucocutaneous pigmentation.\n\nExclusion Criteria:\n\n1. Allergy to NSAIDs;\n2. Long-term use of any dose of NSAIDs, including aspirin or celecoxib, within 6 months prior to enrollment (willing to undergo a 3-month washout period to restore eligibility);\n3. Imaging indicate small intestinal polyps ≥ 3 cm in diameter, intestinal intussusception, intestinal obstruction or intestinal tumor at the time of enrollment;\n4. Surgical treatment for small intestinal polyps within 2 years prior to enrollment;\n5. Anticipated small bowel resection due to severe polyps within 6 months of enrollment;\n6. Receiving other medications for gastrointestinal polyps;\n7. Peptic ulcer within 3 months prior to enrollment;\n8. Unstable cardiorespiratory condition;\n9. Serious renal, hepatic or haematological dysfunction (creatinine \\>1.5 × ULN; ALT \\>1.5 × ULN, AST \\>1.5 × ULN, ALP \\>1.5 × ULN, TBIL \\>2 × ULN; haemoglobin \\\u003C10 g\u002FdL, platelet count \\\u003C100,000\u002FmL, white blood cells \\\u003C3000\u002FmL) or other systemic diseases are unsuitable for participation in this study;\n10. Pregnancy or breastfeeding;\n11. Unwilling or unable to sign the informed consent form","8 Years",{"count":101,"type":19},80,"INTERVENTIONAL",[104],"NA","The Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant syndrome characterized by mucocutaneous pigmentations, multiple gastrointestinal hamartomatous polyps, and an elevated risk of developing malignancies. Patients with PJS often experience recurrent gastrointestinal polyps that gradually increase in number and size, requiring repeated treatments. As the disease progresses, most patients are forced to undergo multiple surgical or endoscopic treatments. Small bowel polyps develop in 60-90% of patients with PJS, and intussusception occurs in 65% of these patients. Currently, on-demand surgery or scheduled endoscopic polypectomy is the standard of care for the management of small bowel polyps, and among patients who have undergone an initial surgery, reoperation is performed in up to 40% within 5 years. In addition, 8-40% of patients develop small bowel polyp-related complications even with multiple endoscopic treatments. However, surgery and endoscopic treatments are associated with complications, including short bowel syndrome, intestinal adhesions, bowel perforation and bleeding, and health-related quality of life. These problems often lead to decreased patient compliance and even treatment resistance, which increases the risk of disease progression. Because surgical and endoscopic treatment do not completely eliminate the potential for future polyps or extraintestinal neoplasms, there is an unmet medical need for the identification and use of pharmacologic agents to delay endoscopic or surgical interventions.\n\nCyclooxygenase (COX) is overexpressed in hamartomatous polyp tissue from PJS individuals, which may provide an avenue for possible effective chemoprevention of polyp formation and growth in PJS. Celecoxib, a COX-2 inhibitor, has been shown to reduce polyp burden by 54% in PJS model mice. In addition, the study evaluated the treatment effect of celecoxib on six patients with PJS, two of whom experienced a reduction in gastric polyp burden after six months. These findings provide preliminary evidence that celecoxib may delay the progression of PJS as a potential pharmacological prophylaxis.\n\nInvestigators plan to conduct a multicenter, double-blind, randomized, placebo-controlled trial to evaluate the efficacy and safety of celecoxib, and they will use a time-to-event analysis with a composite efficacy end point to determine whether celecoxib can delay disease progression or reduce the need for important endoscopic or surgical procedures in patients with PJS.",[60,107,108],"Celecoxib","Small Bowel Polyp","2025-05-28",{"date":111,"type":83},"2025-05-30",{"date":113,"type":83},"2025-02-01",{"date":115,"type":19},"2029-01-01",{"name":117,"class":90},"Air Force Military Medical University, China",{"id":119,"slug":120,"hasResults":11,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":124,"eligibilityCriteria":125,"healthyVolunteers":11,"sex":16,"minAge":126,"maxAge":127,"enrollmentInfo":128,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":130,"conditions":131,"keywords":137,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":141,"lastUpdatePostDateStruct":142,"startDateStruct":144,"completionDateStruct":146,"leadSponsor":148,"locationsCount":150},"100369811","registry-of-subjects-at-risk-of-pancreatic-cancer-100369811","NCT04095195","Registry of Subjects at Risk of Pancreatic Cancer","Italian Registry of Families At Risk of Pancreatic Cancer","IRFARPC","Inclusion Criteria to enter the registry:\n\n* individuals with at least two relatives suffering from pancreatic cancer, with at least 1 first-degree and until the third-degree\n* subjects with known genetic mutation of BRCA2, BRCA1, p16, PALB2 with at least 1 first- or 2nd-degree relative suffering from pancreatic cancer\n* subjects suffering from FAMMM Syndrome\n* subjects suffering from Peutz-Jeghers Syndrome\n* subjects suffering from PRSS-1- or CFTR- or SPINK-1- related pancreatitis\n* subjects suffering from Lynch syndrome with at least 1 first- or 2nd-degree relative suffering from pancreatic cancer\n\nInclusion criteria to join the \"radiologic follow-up\":\n\n* 45 years or 10 years younger than the youngest index case of pancreatic cancer in the family for familial cases\n* 40 years or 5 years younger than the youngest index case of pancreatic cancer for subjects suffering from hereditary\u002Fgenetic pancreatitis, Lynch syndrome, or carrying a known BRCA 1\u002F2, PALB2, p16 genetic mutation with familiarity for pancreatic cancer\n* 30 years for subjects suffering from FAMMM, Peutz-Jeghers syndrome\n\nExclusion Criteria:\n\n\\- pregnancy","18 Years","80 Years",{"count":129,"type":19},1000,"IRFARPC is a multicenter national registry designed to study the diagnosis and predisposing factors of subjects with an inherited increased risk for pancreatic cancer.",[132,133,134,47,135,136,60],"Familial Pancreatic Cancer","BRCA1 Mutation","BRCA2 Mutation","FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome","Hereditary Pancreatitis",[132,138,47,139,140],"BRCA Mutation","Screening pancreatic cancer","Surveillance pancreatic cancer","2023-01-12",{"date":143,"type":83},"2023-01-13",{"date":145,"type":83},"2019-08-20",{"date":147,"type":19},"2045-09-20",{"name":149,"class":90},"Associazione Italiana per lo Studio del Pancreas",4]