[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hereditary-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hereditary-diseases":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,43,70,93,117,143,165],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100558331","clinical-performance-of-medical-device-software-lipidica-10-for-processing-data-generated-by-lipidomic-analysis-in-pancreatic-cancer-screening-100558331",false,"NCT06549725","Clinical Performance of Medical Device Software \"Lipidica 1.0\" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening","Inclusion Criteria Arm1:\n\n* Age ≥ 18 years\n* Signed informed consent\n* Histologically confirmed diagnosis of resectable PaC\n\nExclusion Criteria Arm 1:\n\n* History of any other cancer disease\n* Present incurable malignancy\n* Unfit for radical curative resection of the tumor\n* Vegan or vegetarian diet\n\nInclusion Criteria Arm2:\n\n* Age ≥ 18 years\n* Signed informed consent\n* High risk of PaC due to the presence of one of the following risk factors:\n\n  1. Family history of PaC (≥ 2 first-degree or second-degree relatives with PaC in the same family line)\n  2. Confirmed germline mutation of STK11 (LKB1) regardless of family history\n  3. Confirmed germline mutation of CDKN2A leading to the alteration of p16 regardless of family history\n  4. Confirmed germline mutation of APC, ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, PALB2 or TP53 AND ≥ 1 first-degree or second-degree relative with PaC\n  5. Present hereditary pancreatitis (recurrent acute pancreatitis or chronic pancreatitis and confirmed germline mutation of PRSS1)\n* Age:\n\n  1. Person with a family history of PaC: \\> 50 years or 10 years before the diagnosis of PaC in the youngest family member (whichever comes first)\n  2. Person with STK11 mutation: \\> 35 years or 10 years before the diagnosis of PaC in the youngest family member (whichever comes first)\n  3. Person with CDKN2A mutation: \\> 40 years or 10 years before the diagnosis of PaC in the youngest family member (whichever comes first)\n  4. Person with APC, ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, PALB2 or TP53 mutation: \\> 45 years or 10 years before the diagnosis of PaC in the youngest family member (whichever comes first)\n  5. Person with hereditary pancreatitis: \\> 40 years or 20 years after the 1st attack (whichever comes first)\n\nExclusion Criteria Arm 2:\n\n* Pregnancy of planning to conceive in the next 12 months\n* History of any cancer disease\n* Present incurable malignancy\n* Inability to undergo planned medical imaging or blood sampling\n* Vegan or vegetarian diet",true,"ALL","18 Years",{"count":19,"type":20},419,"ESTIMATED","INTERVENTIONAL",[23],"NA","Software \"Lipidica\" is intended to be used for processing data generated by the in-house in vitro diagnostic medical device for lipidomic testing for the purpose of screening Pancreatic cancer (PaC) in the population at high risk of this cancer due to familial risk, selected gene mutations or hereditary pancreatic diseases.\n\nThe primary objective is to verify that the investigational IVDSW can discriminate between results of patients with Pancreatic cancer and persons without Pancreatic cancer but at higher risk of this cancer disease due to their predispositions.\n\nParticipants will:\n\n* come to baseline and end of study visit for blood sampling and medical imaging\n* some participant will undertake one more visit depending on their results on baseline",[26,27,28,29],"Pancreas Cancer","Pancreatic Ductal Adenocarcinoma","Hereditary Diseases","Pancreatitis, Chronic","RECRUITING","2026-04-22",{"date":33,"type":34},"2026-04-27","ACTUAL",{"date":36,"type":34},"2024-09-10",{"date":38,"type":20},"2027-09-26",{"name":40,"class":41},"Lipidica, a.s.","INDUSTRY",16,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":21,"phases":52,"briefSummary":53,"conditions":54,"keywords":55,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":69},"100541482","pancreatic-cancer-screening-in-a-population-at-high-risk-100541482","NCT06330441","Pancreatic Cancer Screening in a Population at High Risk","ScrePan","Inclusion Criteria:\n\n* willing to participate in the study\n* age 18+\n* arms specific criteria:\n\nA:\n\n* chronic pancreatic disease in the context of cystic fibrosis or chronic pancreatitis\n* age 50+\n\nB1:\n\n* confirmed Peutz-Jegherson syndrome (mutSTK11) + age over 35 years or 10 years earlier than pancreatic ductal adenocarcinoma was diagnosed in the youngest family member\n* familial melanoma syndrome (mutCDKN2A) + age over 40 years or 10 years before pancreatic ductal adenocarcinoma was diagnosed in the youngest family member\n* confirmed hereditary pancreatitis (mutPRSS1) + age over 40 years or 20 years after the first attack\n\nB2:\n\n* confirmed diagnosis of hereditary syndrome (Lynch syndrome \u002FmutMLH1, mutMSH2, mutMSH6, mutPMS2, mutEPCAM\u002F, HBOC \u002FmutBRCA1, mutBRCA2, mutPALB2, mutATM\u002F, familial adenomatous polyposis \u002FmutAPC\u002F, Li-Fraumeni syndrome \u002FmutTP53\u002F)\n* at least one relative with a diagnosis of pancreatic ductal adenocarcinoma in family anamnesis at the same time (Grade I or II relative)\n* age over 50 years, or 10 years before the pancreatic ductal adenocarcinoma was diagnosed in the youngest relative - which comes first\n\nC:\n\n* positive family anamnesis of pancreatic ductal adenocarcinoma without hereditary syndrome context\n* age 50+ or 10 years earlier than the youngest relative with pancreatic ductal adenocarcinoma - screening is recommended for all first-degree relatives of affected family members\n\nExclusion Criteria:\n\n* Inability to undergo radical curative surgery for a pancreatic tumor.\n* Inability to undergo scheduled imaging examinations.\n* Incurable malignant cancer.",{"count":51,"type":20},700,[23],"Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing. In a certain proportion of patients, it is possible to predict the disease, e.g. due to family burdens. Regular follow-up of such individuals is the subject of the SCREPAN study: \"Pancreatic Cancer Screening in High-Risk Persons\".",[27,28,29],[56,57,58],"pancreatic ductal adenocarcinoma","screening programme","high-risk population","2026-04-16",{"date":61,"type":34},"2026-04-21",{"date":63,"type":34},"2022-01-07",{"date":65,"type":20},"2028-01-06",{"name":67,"class":68},"Masaryk Memorial Cancer Institute","OTHER",1,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":76,"eligibilityCriteria":77,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":78,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":81,"conditions":82,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":69},"100403069","embryo-health-study-100403069","NCT04528498","Embryo Health Study","The Embryo Health Study: Prospective Longitudinal Analysis of PGT-P","EHS","Inclusion Criteria:\n\n* All couples of Caucasian or East Asian ancestry above the age of 18 who elect to have PGT-A as part of their IVF treatment cycle.\n\nExclusion Criteria:\n\n* Any case where biological parental DNA is unavailable.\n* Any case involving PGT-M or PGT-SR.",{"count":79,"type":20},500,"OBSERVATIONAL","This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders. Patients undergoing IVF and genetic testing on their embryos for aneuploidies will be given the option to obtain information of their embryos' polygenic disease risk after receiving genetic counseling.",[83,28],"Infertility","2025-08-19",{"date":86,"type":34},"2025-08-26",{"date":88,"type":34},"2020-12-01",{"date":90,"type":20},"2025-12-01",{"name":92,"class":41},"Genomic Prediction Inc.",{"id":94,"slug":95,"hasResults":11,"nctId":96,"briefTitle":97,"officialTitle":97,"acronym":98,"eligibilityCriteria":99,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":100,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":101,"conditions":102,"keywords":106,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":116},"100484392","investigating-hereditary-risk-in-thoracic-cancers-inherit-100484392","NCT05587439","Investigating Hereditary Risk In Thoracic Cancers (INHERIT)","INHERIT","Inclusion Criteria:\n\n* Cohort 1: individuals with or with high risk of carrying an EGFR T790M or other EGFR germline variant identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.\n\n  * Participants with variants of uncertain significance may be eligible at the PI's discretion\n* Cohort 2: individuals with or with high risk of carrying non-EGFR germline variants suggestive of a potential inherited lung cancer risk, identified in blood or saliva, including via somatic single or multi-gene panel testing (MGPT). This includes both probands and family members.\n\n  * Participants with variants of uncertain significance may be eligible at the PI's discretion\n* Cohort 3: individuals with lung cancer who are not known to carry a pathogenic or likely pathogenic variant, and with one of the following:\n\n  * first-degree relative with lung cancer\n  * multi-generational family history of lung cancer\n  * personal history of multiple primary lung cancers or other neoplasms\n  * multifocal lung cancer This includes both probands and their families.\n* For each cohort, the following applies:\n\n  * May include blood relatives of individuals with the aforementioned variants or family history, who may be presumed obligate carriers or healthy controls\n  * Deceased patients may be included in the study. Pathology specimens and public records, such as death certificates, may be used to confirm information. If medical records and\u002For pathology specimens are needed, consent will be obtained from the descendant's next-of-kin. Next-of-kin refers to the following hierarchy of relatives: spouse, offspring, parents, and siblings. (Any further use of \"next-of-kin\" in this protocol refers to this hierarchy).\n  * Data and specimens from previously consented eligible individuals (under Dana-Farber IRB protocol #12-360) will also be deposited into the study database and specimen banks from other investigators as long as their consents permit sharing of specimens and data. It is estimated that approximately 150 individuals may qualify under these criteria.\n  * Some of the variants identified initially through germline testing may ultimately be shown to not be germline but rather somatic mosaic (ACE or CHIP). These individuals will remain in the study cohort but will not be asked for ongoing questionnaire or repeat specimen donation\n\nExclusion Criteria:\n\n* Individuals who decline to consent\n* Individuals who are unable to give consent or assent and are without a designated healthcare proxy",{"count":79,"type":20},"The purpose of this research study is to learn more about the inherited risk for developing lung cancer.",[103,104,105,28],"Lung Cancer","Genetic Disease","Genetic Predisposition",[103,104,105,28],"2025-07-07",{"date":109,"type":34},"2025-07-10",{"date":111,"type":34},"2023-01-01",{"date":113,"type":20},"2027-11-01",{"name":115,"class":68},"Dana-Farber Cancer Institute",2,{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":123,"eligibilityCriteria":124,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":125,"targetDuration":4,"studyType":80,"phases":4,"briefSummary":127,"conditions":128,"keywords":131,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":4},"100592223","lynch-syndrome-in-colorectal-cancer-surgery-100592223","NCT06990633","Lynch Syndrome in Colorectal Cancer Surgery","LYNX STUDY: Lynch Syndrome in Colorectal Cancer Surgery - A Multicentre, Prospective Cohort Study","LYNX","Inclusion Criteria:\n\nAge 18 years or older\n\nHistologically confirmed diagnosis of colorectal adenocarcinoma\n\nUndergoing surgical resection at one of the participating general surgery departments\n\nAvailability of formalin-fixed, paraffin-embedded (FFPE) tumor tissue for MMR analysis\n\nConsent to participate in the study and undergo genetic testing if indicated\n\nExclusion Criteria:\n\nAge below 18 years\n\nDiagnosis other than colorectal adenocarcinoma\n\nIncomplete or unavailable postoperative pathology results\n\nInadequate tissue samples for IHC analysis\n\nPatients who decline participation in the study at any point\n\nPatients who do not attend or refuse referral to genetic counseling after pathology results",{"count":126,"type":20},180,"Study Design (Material and Methods)\n\nThis is a multicentre, prospective cohort and audit study conducted in Türkiye. The study aims to evaluate the incidence of Lynch syndrome among patients who undergo surgery for colorectal cancer in participating general surgery departments.\n\nOver a 12-month period, patients undergoing surgery for histologically confirmed colorectal cancer at multiple tertiary hospitals across Türkiye will be enrolled. Postoperative pathological assessments will include immunohistochemical (IHC) analysis for mismatch repair (MMR) protein expression (MLH1, PMS2, MSH2, and MSH6).\n\nIn cases showing loss of MLH1 and PMS2 expression, BRAF mutation testing will be performed. If BRAF mutation is detected, MLH1 promoter methylation analysis will follow. A positive result in both tests will suggest a sporadic etiology, whereas the absence of both findings will lead to referral for germline genetic testing using next-generation sequencing (NGS) to investigate Lynch syndrome.\n\nFor patients with isolated MSH2 and\u002For MSH6 loss, direct referral to genetic testing will be carried out without BRAF or methylation testing.\n\nPatients with intact MMR expression will be recorded as the MMR-proficient control group. Comparative analysis will be conducted between dMMR and MMR-proficient patients, including demographic characteristics (age, sex, family history of cancer), tumor staging, anatomical location, and presence of metastases.\n\nThe primary outcome is to determine the incidence of Lynch syndrome among surgically treated colorectal cancer patients in Türkiye and to identify clinical and pathological correlations.",[129,28,130],"Colo-rectal Cancer","Lynch Syndrome",[132],"Lynch Syndrom, Colorectal Cancer","NOT_YET_RECRUITING","2025-05-17",{"date":136,"type":34},"2025-05-25",{"date":138,"type":20},"2025-07-01",{"date":140,"type":20},"2026-08-01",{"name":142,"class":68},"Izmir Ataturk Training and Research Hospital",{"id":144,"slug":145,"hasResults":11,"nctId":146,"briefTitle":147,"officialTitle":147,"acronym":148,"eligibilityCriteria":149,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":150,"targetDuration":4,"studyType":21,"phases":152,"briefSummary":153,"conditions":154,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":156,"lastUpdatePostDateStruct":157,"startDateStruct":159,"completionDateStruct":161,"leadSponsor":163,"locationsCount":69},"100403315","uzku-leuven-program-for-post-mortem-tissue-donation-to-enhance-research-100403315","NCT04531696","UZ\u002FKU Leuven Program for Post-mortem Tissue Donation to Enhance Research","UPTIDER","Inclusion Criteria:\n\n* Age ≥ 18 years.\n* Signature of informed consent by the subject.\n* Metastatic breast cancer, or hereditary cancer syndrome with a moderate to high lifetime risk of breast cancer, for which the patient is treated\u002Ffollowed in UZ Leuven or treated in another hospital and referred to UZ Leuven specifically for the trial.\n\nAdditional inclusion criteria for the different substudies:\n\n* Pilot phase: no additional inclusion criteria.\n* ILC substudy: histologically confirmed history of ILC.\n* IBC substudy: history of IBC, fulfilling the following criteria described by Dawood et al: rapid onset of breast erythema, oedema and\u002For peau d'orange and\u002For warm breast with or without an underlying palpable mass, duration of history of no more than 6 months, erythema occupying at least one-third of the breast and pathological confirmation of invasive carcinoma.\n* Hereditary cancer syndrome substudy: confirmed presence of a germline mutation known to be associated with a moderate to high lifetime risk of BC (e.g. known pathogenic variants in the genes BRCA1\u002F2, CHEK2, TP53, PALB2) and presence of at least one malignant lesion at time of inclusion (of any origin) .\n* Other substudies: no additional inclusion criteria.\n\nExclusion Criteria:\n\n* Presence of a transmissible disease that can form a risk to the health of researchers or others handling the body or patient samples. This includes but is not limited to the following infectious diseases: human immunodeficiency virus (HIV), active hepatitis C virus (HCV), encephalitis of unknown cause, Creutzfeldt-Jakob disease, rabies, active malaria, active tuberculosis, active SARS-CoV-2 infection.\n* Presence of any factors that could logistically or organizationally impede the study or the performance of sampling within a reasonable post-mortem time frame. This includes but is not limited to: residence of the subject at a faraway distance from the UZ Leuven hospital; residence of the subject on territory outside of Belgium; impossibility to notify the clinician confirming the death and the researchers within a reasonable time frame in case of death.\n\nAdditional exclusion criteria for the different substudies:\n\n\\- ILC substudy, IBC substudy: diagnosis of a malignancy other than breast cancer in the 5 years prior to inclusion. Exceptions include basal cell carcinoma of the skin or squamous cell carcinoma of the skin and in situ cervical carcinoma.",{"count":151,"type":20},100,[23],"UPTIDER is a prospective, interventional, non-Investigational Medicinal Product (non-IMP), non-commercial, single centre post-mortem tissue donation program for metastatic breast cancer patients or patients with a germline pathogenic variant with a moderate to high lifetime risk of breast cancer and at least one malignancy at time of death. The overarching objective of UPTIDER is (i) to unravel metastatic breast cancer evolution, biology, heterogeneity and treatment resistance and (ii) to assess pathogenicity and tumour biology in hereditary cancer syndromes with a high lifetime risk of breast cancer; both through extensive post-mortem multi-level and multi-region sample analysis.",[155,28],"Breast Cancer","2024-06-27",{"date":158,"type":34},"2024-06-28",{"date":160,"type":34},"2020-11-30",{"date":162,"type":20},"2035-09",{"name":164,"class":68},"Universitaire Ziekenhuizen KU Leuven",{"id":166,"slug":167,"hasResults":11,"nctId":168,"briefTitle":169,"officialTitle":170,"acronym":4,"eligibilityCriteria":171,"healthyVolunteers":11,"sex":16,"minAge":172,"maxAge":173,"enrollmentInfo":174,"targetDuration":4,"studyType":21,"phases":176,"briefSummary":178,"conditions":179,"keywords":182,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":193,"leadSponsor":195,"locationsCount":69},"100524336","early-phase-1-safety-and-efficacy-of-rm-004-cells-for-hemoglobin-h-constant-spring-disease-100524336","NCT06107400","Safety and Efficacy of RM-004 Cells for Hemoglobin H-Constant Spring Disease","Study to Evaluate the Safety and Efficacy of RM-004 Cells for the Treatment of Hemoglobin H-Constant Spring Disease","Inclusion Criteria:\n\n1. Subjects voluntarily sign informed consent by themselves or their legal guardians and complete the study procedures, follow-up examination and treatment.\n2. At the time of screening, subjects should be aged from 12 to 35 years old, regardless of gender.\n3. History of at least 100 mL\u002Fkilograms (kg)\u002Fyear of packed red blood cells (pRBC) transfusions in the prior 2 years before screening.\n4. Subjects diagnosed with Hemoglobin H-Constant Spring disease (--\u002FααCS) with HBA2 c.427T\\>C mutation.\n\nExclusion Criteria:\n\n1. Subject who has an available HLA-matched\u002Fwell-matched HSCT donor for allogeneic hematopoietic stem cell transplantation (HSCT).\n2. Prior HSCT or gene therapy.\n3. History of severe hemorrhagic disease.\n4. Clinically significant active bacterial, viral, fungal or parasitic infections per investigator's judgement at the time of screening.","12 Years","35 Years",{"count":175,"type":20},5,[177],"EARLY_PHASE1","The purpose of this study is to evaluate the safety and efficacy of RM-004 for Hemoglobin H-Constant Spring disease.",[180,181,28],"Alpha Thalassemia Hemoglobin H Constant Spring","Hemoglobinopathies",[183,184,185,186,187],"RM-004","Hemoglobin H-Constant Spring disease","Alpha-Thalassemia","Gene therapy","CBE","2024-05-30",{"date":190,"type":34},"2024-06-03",{"date":192,"type":34},"2023-10-08",{"date":194,"type":20},"2026-10-31",{"name":196,"class":68},"The 923rd Hospital of Joint Logistics Support Force of People's Liberation Army"]