[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-predisposition-to-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-predisposition-to-disease":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,22,0,[8,50,81,106,131,155,184,212,240,266,292,315,353,377,403,427,451,476,500,532,552,584],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":31,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100648853","phase-1-effects-of-sirolimus-on-asymptomatic-apoe4-carriers-100648853",false,"NCT07728175","Effects of Sirolimus on Asymptomatic ApoE4 Carriers","Effects of Sirolimus on Middle Aged Asymptomatic ApoE4 Carriers","Inclusion Criteria:\n\n1. Willing and able to provide informed consent\n2. Sex assigned at birth: female\n3. 45-65 years old\n4. Able to perform self-care and activities of daily living with no or minimal assistance\n5. Post-menopausal status or use of highly effective contraception. Post-menopausal is defined as either\n\n   * 12 months of spontaneous amenorrhea with an appropriate clinical profile (e.g., age-appropriate, history of vasomotor symptoms)\n   * surgical bilateral oophorectomy (with or without hysterectomy), total hysterectomy, or tubal ligation at least 6 weeks prior to screening. For oophorectomy alone, post-menopausal status must be confirmed by follow-up hormone level assessment\n   * Highly effective contraception includes intrauterine devices (IUD), oral contraceptives, or other hormonal contraceptives including injectables, transdermal patches, implants or vaginal rings, or refraining from heterosexual intercourse during the 4 weeks of taking the study drug and for 2 weeks after no longer taking the study drug\n6. Body weight of ≥ 40 kg\n7. Ability to effectively communicate with the investigator and comply with study requirements\n\nExclusion Criteria:\n\n1. Diagnosis of mild cognitive impairment (MCI), dementia, or Alzheimer's disease\n2. BMI ≥ 35 (based on MRI feasibility)\n3. Type 1 diabetes or poorly controlled type 2 diabetes (HbA1c ≥ 6.5%)\n4. History of skin ulcers or poor wound healing\n5. Current tobacco or illicit drug use or alcohol abuse (defined as ≥ 3 per day or ≥ 7 per week for women) (Per NIAAA guidelines)\n6. Use of anti-platelet or anti-coagulant medications other than aspirin\n7. Required use of medications that affect cytochrome P450 3A4 (CYP3A4) or alter cerebral blood flow (see Appendix 1 for tables of excluded medications)\n8. Immunosuppressant therapy within the last year\n9. Chemotherapy or radiation treatment within the last year\n10. Current or chronic history of liver or kidney disease or known hepatic or biliary abnormalities\n11. Untreated hypertriglyceridemia (fasting triglycerides \\\u003C 300 mg\u002Fdl)\n12. Current or chronic significant history of pulmonary disease\n13. Chronic heart failure\n14. Pregnancy or lactation\n15. Recent history (past six months) of myocardial infarction, active coronary artery disease, intestinal disorders, stroke, or transient ischemic attack\n16. Poorly controlled blood pressure (systolic BP \\> 160 or diastolic BP \\> 100 mmHg)\n17. Active inflammatory, COVID-19, autoimmune, infectious, hepatic, gastrointestinal, malignant, and\u002For severe mental illness\n18. History of, or MRI, or CT positive for, any space occupying brain lesion, including mass effect or abnormal intracranial pressure\n19. Organ transplant recipients\n20. History of Stroke\n21. History of ruptured intracranial aneurysm\n22. History of malignancy within the past 2 years, with the following exceptions:\n\n    * Localized basal cell or squamous cell carcinoma of the skin\n    * Prostate cancer confined to the gland (AJCC stage T2N0M0 or better)\n    * Cervical carcinoma in situ\n    * Breast cancer localized to the breast\n23. History of epilepsy",true,"FEMALE","45 Years","65 Years",{"count":21,"type":22},225,"ESTIMATED","INTERVENTIONAL",[25],"PHASE1","Alzheimer's disease is a devastating neurodegenerative disease characterized by accumulation of clumps (also called plaques) and bundles of fibers (also called tangles) in the brain, for which there is currently no cure.\n\nSirolimus (Rapamycin) is an FDA-approved medication which may improve the blood flow to the brain. The purpose of the clinical trial is to find out whether sirolimus can help improve blood flow and energy use in the brain in women ages 45 to 65 who have the ApoE4 gene, a gene which increases the risk of developing Alzheimer's disease later in life.\n\nThere will be two arms in this trail, a sirolimus arm and a placebo arm. A placebo is a pill that looks like the study drug, but it does not have any real medicine in it. Participants will be randomized to one arm or the other, but not to both arms. Three study visits over a 12-week period are required.\n\nParticipants will: (i) Complete some questionnaires about how well you think; (ii) Complete genetic testing for the ApoE4 gene; (iii) Have blood work, blood pressure and height and weight collected; (iv) Take either Sirolimus or a placebo daily, by mouth, for approximately 4 weeks; (v) Keep a diary of when the sirolimus or placebo is taken; (vi) Complete 2 Magnetic Resonance Imaging (MRI) exams",[28,29,30],"Genetic Predisposition to Disease","Healthy Volunteer","APOE-4 Positive",[32,33,34,35,36],"ApoE4 positive","Cerebral Blood Flow","Sirolimus","Rapamycin","Magnetic Resonance Imaging","NOT_YET_RECRUITING","2026-07-28",{"date":40,"type":41},"2026-07-30","ACTUAL",{"date":43,"type":22},"2026-12-01",{"date":45,"type":22},"2028-07-07",{"name":47,"class":48},"University of Missouri-Columbia","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":4,"eligibilityCriteria":56,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":59,"enrollmentInfo":60,"targetDuration":4,"studyType":23,"phases":62,"briefSummary":64,"conditions":65,"keywords":67,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":49},"100594337","expression-of-genes-relating-hypertension-and-efficacy-of-4-7-8-breathing-control-on-reducing-blood-pressure-100594337","NCT07018128","Expression of Genes Relating Hypertension and Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure","Expression of Genes Relating Hypertension in Thailand and the Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure in Individuals With Hypertension","Study 1:\n\n1. Group of individuals with hypertension\n\n   Inclusion Criteria:\n   * Male or female\n   * Aged between 18-59 years\n   * Of Thai ethnicity\n   * Diagnosed with hypertension, defined as having an SBP of 140 mmHg or higher, or a DBP of 90 mmHg or higher, or having previously been diagnosed with hypertension and currently taking antihypertensive medication\n   * Originally from various regions of Thailand and currently residing in the eastern region\n\n   Exclusion Criteria:\n   * Has heart disease, such as valvular stenosis or regurgitation, coronary artery disease, or heart failure\n   * Has obesity, defined as having a body mass index (BMI) of 30 kg\u002Fm² or higher\n   * Has a fever or is currently experiencing an infectious disease, such as COVID-19, the flu, or other infections\n2. Group of individuals with normal blood pressure\n\nInclusion Criteria:\n\n* Male or female\n* Aged between 18-59 years\n* Of Thai ethnicity\n* Does not have hypertension, defined as having an SBP below 130 mmHg and a DBP below 85 mmHg, with no prior diagnosis of hypertension and no history of taking antihypertensive medication\n* Originally from various regions of Thailand and currently residing in the eastern region\n\nExclusion Criteria:\n\n* Has heart disease, such as valvular stenosis or regurgitation, coronary artery disease, or heart failure\n* Has obesity, defined as having a body mass index (BMI) of 30 kg\u002Fm² or higher\n* Has a fever or is currently experiencing an infectious disease, such as COVID-19, the flu, or other infections\n\nStudy 2:\n\nInclusion Criteria:\n\n* Male or female, aged 35-59 years\n* Diagnosed with hypertension, with blood pressure levels above the normal range, defined as SBP of 130 mmHg or higher, or DBP of 85 mmHg or higher, and currently taking medication\n* Originally from various regions of Thailand and currently residing in the eastern region\n* Able to communicate effectively\n\nExclusion Criteria:\n\n* Has respiratory diseases, cardiovascular diseases, cerebrovascular disease, kidney disease, cancer, or immune-related conditions such as allergies, autoimmune diseases (e.g., SLE), immunodeficiency, or rheumatoid arthritis\n* Is obese, defined as having a body mass index (BMI) of 30 kg\u002Fm² or higher\n* Has a fever or is currently infected, such as with COVID-19, the flu, or other infectious diseases\n* Is currently pregnant, breastfeeding, or has a history of pregnancy within the 6 months prior to participating in the study","ALL","18 Years","59 Years",{"count":61,"type":22},200,[63],"NA","This study consists of two sub-studies. Study 1 investigates gene expression related to the development of hypertension in Thailand, and Study 2 examines the effectiveness of the 4-7-8 breathing technique in reducing blood pressure in individuals with hypertension.",[28,66],"Breathing, Mouth",[68,69,70],"Gene","Blood pressure","Breathing","RECRUITING","2026-05-08",{"date":74,"type":41},"2026-05-11",{"date":76,"type":41},"2024-10-01",{"date":78,"type":22},"2026-09-30",{"name":80,"class":48},"Burapha University",{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":87,"eligibilityCriteria":88,"healthyVolunteers":11,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":89,"targetDuration":4,"studyType":23,"phases":90,"briefSummary":91,"conditions":92,"keywords":95,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":97,"lastUpdatePostDateStruct":98,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":49},"100601576","germline-testing-for-predisposition-to-myeloid-malignancies-100601576","NCT07112287","Germline Testing for Predisposition to Myeloid Malignancies","MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies","MyeloGen","Inclusion Criteria:\n\n* Age of 18 years or older\n* Participants must have histologically confirmed myeloid malignancy OR bone marrow failure within the last 6 months prior to screening.\n* Ability to understand and provide a signed and completed consent document in English.\n\nExclusion Criteria:\n\n* Participants who cannot safely undergo clinically indicated skin biopsy as adjudicated by the study team.\n* Participants who have previously undergone germline genetic testing for predisposition to myeloid malignancies",{"count":61,"type":22},[63],"The goal of this research study is to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants diagnosed with myeloid malignancies.",[93,28,94],"Myeloid Malignancy","Myeloid Hematological Malignancies",[96,28],"Myeloid Malignancies","2026-04-21",{"date":99,"type":41},"2026-04-24",{"date":101,"type":41},"2025-11-10",{"date":103,"type":22},"2033-04-01",{"name":105,"class":48},"Christopher Reilly",{"id":107,"slug":108,"hasResults":11,"nctId":109,"briefTitle":110,"officialTitle":110,"acronym":4,"eligibilityCriteria":111,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":112,"enrollmentInfo":113,"targetDuration":4,"studyType":23,"phases":115,"briefSummary":116,"conditions":117,"keywords":119,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":97,"lastUpdatePostDateStruct":125,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":129,"locationsCount":49},"100497584","enhancing-information-management-for-young-adults-after-genetic-cancer-risk-testing-100497584","NCT05759143","Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing","Inclusion Criteria AIM 1:\n\n* YA Patients:\n\n  * Ages 18-39 years, inclusive.\n  * Has had previous cancer genetic testing, with a finding of a pathogenic variant or VUS; patient has previously received results from the clinical team.\n  * English-speaking and -reading.\n  * Receiving care at DFCI.\n  * Not undergoing active cancer therapy at the time of approach.\n* Clinicians:\n\n  * Cancer risk physicians (oncologists, gastroenterologists, geneticists), oncologists, nurse practitioners, physician assistants, or genetic counselors.\n  * English-speaking and -reading.\n  * Cares for YAs aged 18-39 with cancer risk syndromes.\n\nInclusion Criteria AIM 2:\n\n* YA Patients:\n\n  * Ages 18-39 years, inclusive.\n  * Has had previous cancer genetic testing, with a finding of a pathogenic variant or VUS; patient has previously received results from the clinical team.\n  * English-speaking and -reading.\n  * Receiving care at Dana-Farber Cancer Institute.\n  * Did not participate in a stakeholder interview (Aim 1).\n  * Not undergoing active cancer therapy at the time of approach.\n* Clinicians:\n\n  * Oncologists, nurse practitioners, cancer risk physicians, or genetic counselors.\n  * English-speaking and -reading.\n  * Caring for a participating YA.","39 Years",{"count":114,"type":22},40,[63],"This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS).\n\nThe name of the intervention used in this research study is:\n\nNest portal (electronic platform for patients and clinicians)",[28,118],"Genetic Predisposition",[28,118,120,121,122,123,124],"Genetic Testing","Cancer Risk Syndromes","VUS","Variant of Uncertain Significance","Pathogenic Variant",{"date":99,"type":41},{"date":127,"type":41},"2023-05-01",{"date":40,"type":22},{"name":130,"class":48},"Dana-Farber Cancer Institute",{"id":132,"slug":133,"hasResults":11,"nctId":134,"briefTitle":135,"officialTitle":135,"acronym":136,"eligibilityCriteria":137,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":138,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":141,"conditions":142,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":145,"startDateStruct":147,"completionDateStruct":149,"leadSponsor":151,"locationsCount":154},"100520485","helix-research-network-100520485","NCT06057181","Helix Research Network","HRN","Inclusion Criteria:\n\n* 18 years and older\n* Willing and able to comply with all aspects of the protocol\n\nExclusion Criteria:\n\n* History of allogenic bone marrow transplant\n* History of allogenic stem cell transplant\n* Anything that would place the individual at increased risk or preclude an individual's: 1) full compliance with study requirements; or 2) completion of the study based on the assessment from local consenting and enrolling Investigators.",{"count":139,"type":22},2000000,"OBSERVATIONAL","The Helix Research Network (\"HRN\") is a network of academic, public, and\u002For private healthcare organizations that are committed to advancing medical research and improving human health through large-scale genomics research and acceleration of the integration of genomic and other omics data into clinical care.",[28,143],"Genetics Disease","2026-03-19",{"date":146,"type":41},"2026-03-23",{"date":148,"type":41},"2021-09-13",{"date":150,"type":22},"2036-09-13",{"name":152,"class":153},"Helix, Inc","INDUSTRY",14,{"id":156,"slug":157,"hasResults":11,"nctId":158,"briefTitle":159,"officialTitle":160,"acronym":4,"eligibilityCriteria":161,"healthyVolunteers":11,"sex":17,"minAge":58,"maxAge":4,"enrollmentInfo":162,"targetDuration":4,"studyType":23,"phases":163,"briefSummary":165,"conditions":166,"keywords":169,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":175,"lastUpdatePostDateStruct":176,"startDateStruct":178,"completionDateStruct":180,"leadSponsor":182,"locationsCount":49},"100440843","phase-2-microbiome-and-association-with-implant-infections-100440843","NCT05020574","Microbiome and Association With Implant Infections","Microbiome and Association With Implant Infections: Investigating the Impact of Antibiotics on the Gut and Breast Microbiomes Post-mastectomy With Implant-based Breast Reconstruction","Inclusion Criteria:\n\n1. Patients must have histologically confirmed breast malignancy OR genetic predisposition to breast cancer.\n2. Age \\>= 18 years\n3. Scheduled to undergo mastectomy with the immediate placement of tissue expanders or implant placement\n4. Ability to understand a written informed consent document, and the willingness to sign it\n5. At least 4 weeks post-completion of chemotherapy or radiation therapy.\n\nExclusion Criteria:\n\n1. Any significant medical condition or laboratory abnormalities, which places the subject at unacceptable risk if he\u002Fshe were to participate in the study\n2. Pregnant or breastfeeding\n3. Patients who have taken antibiotics within 90 days of the consent date\n4. Patients who have taken probiotics within 90 days of the consent date\n5. Patients who have a documented or reported allergic reaction to the outlined antibiotics to be used in this study\n6. Male patients",{"count":61,"type":22},[164],"PHASE2","The most common tissue expander-related infections are from Staphylococcus and Pseudomonas species. In addition, from breast tissue microbiome studies, Staphylococcus and Pseudomonas show variable abundance across samples. The investigator hypothesizes that participants undergoing mastectomy with high initial abundance of Staphylococcus and\u002For Pseudomonas are more likely to develop subsequent tissue expander-related infections from these respective organisms.",[167,168,28],"Breast Cancer","Breast Cancer Female",[170,171,172,173,174],"Post-Surgical Antibiotics","Breast Implant Infections","Breast Microbiome","Breast Reconstruction","Mastectomy","2026-03-16",{"date":177,"type":41},"2026-03-18",{"date":179,"type":41},"2021-09-28",{"date":181,"type":22},"2026-12-31",{"name":183,"class":48},"University of California, San Francisco",{"id":185,"slug":186,"hasResults":11,"nctId":187,"briefTitle":188,"officialTitle":188,"acronym":189,"eligibilityCriteria":190,"healthyVolunteers":16,"sex":57,"minAge":4,"maxAge":191,"enrollmentInfo":192,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":194,"conditions":195,"keywords":199,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":204,"lastUpdatePostDateStruct":205,"startDateStruct":206,"completionDateStruct":208,"leadSponsor":210,"locationsCount":49},"100357259","the-china-neonatal-genomes-project-100357259","NCT03931707","The China Neonatal Genomes Project","CNGP","Inclusion Criteria:\n\n* 1\\. Both parents are of Chinese origin;\n* 2\\. Postnatal age less than 28 days;\n* 3\\. Can be retained to at least 1ml venous blood sample;\n* 4\\. Biological parent or guardian's informed consent.\n\nExclusion Criteria:\n\n* 1\\. the nationality of one of the parents is not the Han nationality or other national minorities;\n* 2\\. reluctance of parents to use genetic sequencing data for subsequent research;\n* 3\\. parents under 18 years of age or incapacitated for decision-making;\n* 4\\. subjects older than 28 days.\n* 5\\. multiple pregnancies;\n* 6\\. lack of access to biological samples from which DNA can be extracted;\n* 7\\. failure to sign informed consent","28 Days",{"count":193,"type":22},100000,"The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.",[196,197,28,198],"Newborn","Hereditary Disease","Defect, Congenital",[196,197,28,198,200,201,202,203],"Genome Sequencing","Exome Sequencing","Newborn Screening","Genetic Diseases, Inborn","2026-03-13",{"date":175,"type":41},{"date":207,"type":41},"2016-08-08",{"date":209,"type":22},"2026-12-30",{"name":211,"class":48},"Children's Hospital of Fudan University",{"id":213,"slug":214,"hasResults":11,"nctId":215,"briefTitle":216,"officialTitle":217,"acronym":218,"eligibilityCriteria":219,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":220,"enrollmentInfo":221,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":223,"conditions":224,"keywords":225,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":49},"100395291","assesment-of-multiomics-profiles-in-health-and-disease-100395291","NCT04427163","Assesment of Multiomics Profiles in Health and Disease.","Assesment of Multiomics Profiles in Health and Disease - Corelation With the Disease Phenotype.","ENIGMA","Inclusion Criteria:\n\n* age 18 - 68 years\n* (for the first 1100 subjects):\n* healthy volunteers without genetically dependent disease and without such a disease in a family\n* healthy volunteer without the preliminary evidence of civilizational diseases such as hypertension, diabetes, autoimmune and tumor diseases or acute infectional diseases; clinically manifesting cardiovascular or pulmonary disability.\n* subject without permanent of long-term medication in the time of biological sampling.\n\nExclusion Criteria:\n\n* not complying with inclusion criteria","68 Years",{"count":222,"type":22},1100,"This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.",[28],[226,227,228,229,230],"genomic profile","disease phenotype","proteomic profile","metabolomic profile","transcriptomic profile","2026-02-11",{"date":233,"type":41},"2026-02-13",{"date":235,"type":41},"2018-09-01",{"date":237,"type":22},"2029-03-30",{"name":239,"class":48},"The Institute of Molecular and Translational Medicine, Czech Republic",{"id":241,"slug":242,"hasResults":11,"nctId":243,"briefTitle":244,"officialTitle":245,"acronym":4,"eligibilityCriteria":246,"healthyVolunteers":16,"sex":17,"minAge":247,"maxAge":248,"enrollmentInfo":249,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":251,"conditions":252,"keywords":254,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":257,"lastUpdatePostDateStruct":258,"startDateStruct":260,"completionDateStruct":262,"leadSponsor":264,"locationsCount":49},"100590026","healthy-volunteers-study-100590026","NCT06962059","Healthy Volunteers Study","Vaginal Metabolome Healthy Volunteers Study","Inclusion Criteria:\n\n* has ovaries\n\nExclusion Criteria:\n\n* genetic mutations which increase risk of ovarian cancer: BRCA1\u002F2, BRIP1, PALB2, Lynch Syndrome (MLH1, MSH2\u002FEPCAM, MSH6) and ATM\n* no genetic testing results or unknown genetic status\n* prior cancer diagnosis\n* prior cancer treatment\n* HRT use\n* Antibiotic use (1 month prior to providing sample)","30 Years","50 Years",{"count":250,"type":22},50,"The purpose of this study is to examine the role of the bacterial environments and metabolites in the early detection and prediction of ovarian cancer development. Vaginal swabs and stool samples will be collected from healthy volunteers, or those without a known ovarian cancer diagnosis or genetic ovarian cancer risk. These samples will be compared to samples from participants with increased cancer risk and ovarian cancer diagnoses.",[253,28],"Ovarian Cancer",[255,256],"vaginal metabolome","ovarian cancer","2026-02-03",{"date":259,"type":41},"2026-02-05",{"date":261,"type":41},"2025-04-21",{"date":263,"type":22},"2027-05-25",{"name":265,"class":48},"Abramson Cancer Center at Penn Medicine",{"id":267,"slug":268,"hasResults":11,"nctId":269,"briefTitle":270,"officialTitle":271,"acronym":4,"eligibilityCriteria":272,"healthyVolunteers":16,"sex":57,"minAge":273,"maxAge":4,"enrollmentInfo":274,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":276,"conditions":277,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":283,"lastUpdatePostDateStruct":284,"startDateStruct":286,"completionDateStruct":288,"leadSponsor":290,"locationsCount":49},"100329392","blood-markers-of-early-pancreas-cancer-100329392","NCT03568630","Blood Markers of Early Pancreas Cancer","A Longitudinal Cohort Study to Identify Clinical and Blood Markers of Early Pancreas Cancer","Inclusion Criteria:\n\n* Age ≥19\n* Able to provide written, informed consent\n* Able to attend an in-person study visit in Omaha, NE twice a year to collect blood samples\n* Must also meet criteria for one specific cohort. Participants who meet criteria for more than one cohort are eligible. (The intent being that potential participants must meet the criteria for at least one cohort, but are eligible if criteria are met for more than one cohort)\n\n  o New onset diabetes\u002Fhigh-risk pre-diabetes cohort: must meet one of the following criteria: New onset type 2 diabetes diagnosed within the past 3 years, defined as A1c ≥ 6.5%, fasting blood glucose \\>126mg\u002FdL confirmed on a subsequent day or as diagnosed by a physician High-risk pre-diabetes: A1c \\>6.3% or A1c \\>6.0% with fasting blood glucose \\>110 or 2 hour oral glucose tolerance test between 140-200mg\u002FdL, or taken metformin \\\u003C3 years\n\n  o Pancreatic cystic neoplasm\u002Fpancreatitis cohort: must have one of the following diagnoses: Pancreatic cystic neoplasm for which resection, endoscopic ultrasound (EUS) or serial imaging has been recommended Chronic pancreatitis as defined by cross-sectional imaging, endoscopic ultrasound, functional testing abnormalities OR as diagnosed by a gastroenterologist\n\n  o Inherited risk cohort: must meet one of the following criteria: Two or more blood relatives with pancreatic ductal adenocarcinoma (PDAC), includes 1st-3rd degree relatives (First - parent, sibling or child; Second - grandparent, aunt\u002Funcle, niece\u002Fnephew, or half-sibling; Third - first cousin, great grand parent or great grandchild) One 1st degree relative with PDAC diagnosed before age 60; Germline mutation associated with a higher than average risk of PDAC, including but not limited to: Hereditary breast and ovarian cancer syndromes (BRCA1, BRCA2, PALB2) Hereditary nonpolyposis colon cancer (Lynch) syndrome (MLH1, MSH2, MSH6, PMS2) Familial adenomatous polyposis (APC) Familial atypical multiple melanoma and mole syndrome (CKDN2a, p16) Peutz-Jeghers syndrome (STK11) Ataxia-telangectasia (ATM) Juvenile polyposis syndromes (SMAD4, BMPR1A) Li Fraumeni (TP53) Cystic fibrosis and unaffected carriers (CFTR) Personal or family history which meets clinical criteria for a hereditary cancer syndrome and includes a relative with PDAC (as above)\n\nExclusion Criteria:\n\n* Personal history of pancreatic ductal adenocarcinoma (PDAC)\n* Currently receiving treatment for a cancer diagnosis (excluding long-term hormonal therapy)\n* Pre-diabetes on metformin for ≥ 3 years","19 Years",{"count":275,"type":22},1250,"Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.\n\nThe investigators propose a longitudinal study of subjects at higher than average risk of PDAC in order to generate clinical data and bank serial blood specimens.",[278,279,280,281,28,282],"Diabetes Mellitus, Type 2","PreDiabetes","Pancreas Cyst","Chronic Pancreatitis","Inherited Disease","2026-01-29",{"date":285,"type":41},"2026-02-02",{"date":287,"type":41},"2018-07-26",{"date":289,"type":22},"2028-07",{"name":291,"class":48},"University of Nebraska",{"id":293,"slug":294,"hasResults":11,"nctId":295,"briefTitle":296,"officialTitle":296,"acronym":297,"eligibilityCriteria":298,"healthyVolunteers":11,"sex":57,"minAge":4,"maxAge":4,"enrollmentInfo":299,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":300,"conditions":301,"keywords":303,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":306,"lastUpdatePostDateStruct":307,"startDateStruct":309,"completionDateStruct":311,"leadSponsor":313,"locationsCount":49},"100366094","genetic-causes-of-discrepant-clinic-in-monogenic-twins-100366094","NCT04046796","Genetic Causes of Discrepant Clinic in Monogenic Twins","DISCO-TWIN","Inclusion Criteria:\n\n* Twin pair monozygotic clinically (phenotypic) discordant twins\n* Unclear diagnosis\n* Suspected (mono-)genetic cause of the disease in one twin\n\nExclusion Criteria:\n\n* Missing informed consent of both twin\u002F legal representative\n* No distinct phenotype",{"count":250,"type":22},"In the DISCO-TWIN study (prospective, open-label molecular-genetic study), twin pairs with one healthy and one affected twin with molecularly undiagnosed diseases will be analysed by means of omics technologies and\u002F or re-analysed using existing datasets. Phenotype and omics data will be shared within the University Hospital Tübingen and with external collaborators to improve the diagnostic rate of the subjects included in the study.",[302,28],"Rare Diseases",[302,118,304,305],"Omics Technology","Next Generation Sequencing (NGS)","2025-03-25",{"date":308,"type":41},"2025-03-30",{"date":310,"type":41},"2019-12-01",{"date":312,"type":22},"2027-12",{"name":314,"class":48},"University Hospital Tuebingen",{"id":316,"slug":317,"hasResults":11,"nctId":318,"briefTitle":319,"officialTitle":320,"acronym":321,"eligibilityCriteria":322,"healthyVolunteers":11,"sex":323,"minAge":324,"maxAge":325,"enrollmentInfo":326,"targetDuration":328,"studyType":140,"phases":4,"briefSummary":329,"conditions":330,"keywords":338,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":344,"lastUpdatePostDateStruct":345,"startDateStruct":347,"completionDateStruct":349,"leadSponsor":351,"locationsCount":49},"100449217","prostate-cancer-genetic-risk-evaluation-and-screening-study-100449217","NCT05129605","Prostate Cancer Genetic Risk Evaluation and Screening Study","Prostate Cancer Genetic Risk Evaluation and Screening Study (PROGRESS)","PROGRESS","Inclusion Criteria:\n\n* Men 35-74 years old\n* No known diagnosis of prostate cancer\n* Life expectancy \\>10 years\n* Meet cohort A, B, or C criteria\n* Cohort A: Documented pathogenic or likely pathogenic germline genetic mutation in a prostate cancer risk gene from a CLIA-certified laboratory (ATM, ATR, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, FANCA, GEN1, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53)\n* Cohort B: A strong family history suggestive of high genetic risk for prostate cancer with negative clinical genetic testing\n* Cohort C: Individuals who self-identify as Black American or Black Caribbean with both parents and all four grandparents of Black\u002FAfrican ancestry\n\nExclusion Criteria:\n\n* Prior diagnosis or treatment of prostate cancer\n* Inability to undergo prostate MRI\n* Inability to receive MRI contrast agent","MALE","35 Years","74 Years",{"count":327,"type":22},400,"10 Years","This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black\u002FAfrican ancestry and evaluate the utility of prostate MRI as a screening tool. The hypothesis is that this targeted population of men are at elevated risk of developing prostate cancer compared to the general population, and enhanced screening with MRI will enable early detection and diagnosis of potentially aggressive prostate cancer, characterization of the penetrance of specific mutations, and potentially identify new genetic risk mutations.",[331,332,333,334,335,336,337,28],"Prostatic Neoplasm","Prostate Cancer","BRCA2 Mutation","BRCA1 Mutation","ATM Gene Mutation","MMR Mutation","Lynch Syndrome",[339,340,341,337,342,343],"BRCA2","BRCA1","Mismatch Repair Deficiency","HOXB13","Family History of Prostate Cancer","2024-10-05",{"date":346,"type":41},"2024-10-09",{"date":348,"type":41},"2020-02-12",{"date":350,"type":22},"2040-12",{"name":352,"class":48},"Massachusetts General Hospital",{"id":354,"slug":355,"hasResults":11,"nctId":356,"briefTitle":357,"officialTitle":358,"acronym":359,"eligibilityCriteria":360,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":361,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":363,"conditions":364,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":367,"lastUpdatePostDateStruct":368,"startDateStruct":370,"completionDateStruct":372,"leadSponsor":374,"locationsCount":376},"100546800","impact-of-inflammatory-indexes-and-gene-scores-in-prediction-of-atrial-fibrillation-100546800","NCT06399666","Impact of Inflammatory Indexes and Gene Scores in Prediction of Atrial Fibrillation","Impact of Inflammatory Indexes and Gene Scores in Prediction of Atrial Fibrillation - IERV Trial","IERV","Inclusion Criteria:\n\n* Persistent atrial fibrillation (ICD-10 I48.1)\n* Age over 18 years\n\nExclusion Criteria:\n\n* Autoimmune disease\n* Inflammatory diseases\n* Acute or chronic liver dysfunction\n* Ongoing infectious diseases\n* Thyroid disorders\n* Any other conditions known to impact inflammatory activity (including medication use and hematological diseases)",{"count":362,"type":22},182,"Because of the high recurrence rates following electrical cardioversion and high morbidity in AF patients there is a need to explore prediction models for AF recurrence following ECV. Previous studies have primarily focused on high-sensitivity CRP (hsCRP), CRP, and IL-6, while other inflammatory indexes and gene scores might hold greater value.\n\nThis prospective cohort study is planning to include 182 patients with persistent atrial fibrillation, planned for electrical cardioversion, and \\>18 years at two medium-sized hospitals in Sweden. Blood samples will be collected prior to electrical cardioversion and at 7-, 30-, 90-, and 180-days follow-up. Atrial fibrillation recurrence will be evaluated at follow-up or upon patient request and diagnosed with 12-lead ECG.\n\nAn interim analysis will be conducted after more than 80 patients have been included. If the results from univariate and\u002For multivariable logistic regression on inflammatory markers and genetic expression regarding atrial fibrillation recurrence are significant, the study will be concluded.",[365,366,28],"Atrial Fibrillation","Inflammation","2024-09-11",{"date":369,"type":41},"2024-09-19",{"date":371,"type":41},"2023-10-30",{"date":373,"type":22},"2026-02-28",{"name":375,"class":48},"Vrinnevi Hospital",2,{"id":378,"slug":379,"hasResults":11,"nctId":380,"briefTitle":381,"officialTitle":381,"acronym":382,"eligibilityCriteria":383,"healthyVolunteers":11,"sex":57,"minAge":384,"maxAge":385,"enrollmentInfo":386,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":388,"conditions":389,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":393,"lastUpdatePostDateStruct":394,"startDateStruct":396,"completionDateStruct":398,"leadSponsor":400,"locationsCount":402},"100152594","identification-of-genomic-predictors-of-adverse-events-after-cardiac-surgery-100152594","NCT01258231","Identification of Genomic Predictors of Adverse Events After Cardiac Surgery","CABGGenomics","Inclusion Criteria:\n\n* Undergoing heart surgery\n* Willing to provide consent\n\nExclusion Criteria:\n\n* Enrolled in a concurrent drug or device trial that precludes concurrent enrollment","20 Years","90 Years",{"count":387,"type":22},4000,"This study aims to identify genetic causes of adverse events after cardiac surgery, such as atrial fibrillation, myocardial infarction, renal dysfunction and heart failure.\n\nPatients undergoing heart surgery at Brigham and Women's Hospital and Texas Heart Institute are eligible to participate.",[390,28,365,391,392],"Heart; Dysfunction Postoperative, Cardiac Surgery","Myocardial Infarction","Heart Failure","2024-08-21",{"date":395,"type":41},"2024-08-22",{"date":397,"type":41},"2000-08",{"date":399,"type":22},"2030-08",{"name":401,"class":48},"Brigham and Women's Hospital",3,{"id":404,"slug":405,"hasResults":11,"nctId":406,"briefTitle":407,"officialTitle":408,"acronym":409,"eligibilityCriteria":410,"healthyVolunteers":11,"sex":57,"minAge":4,"maxAge":411,"enrollmentInfo":412,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":414,"conditions":415,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":417,"lastUpdatePostDateStruct":418,"startDateStruct":420,"completionDateStruct":422,"leadSponsor":424,"locationsCount":426},"100498615","acute-myeloid-leukemia-at-initial-diagnosis-andor-relapse-in-children-teenagers-and-young-adults-molecular-profiling-multidrug-testing-and-msc-interaction-studies-100498615","NCT05772559","Acute Myeloid Leukemia At Initial Diagnosis and\u002For Relapse in Children, Teenagers and Young Adults: Molecular Profiling, Multidrug Testing and MSC Interaction Studies","Acute Myeloid Leukemia At Initial Diagnosis and\u002For Relapse in Children, Teenagers and Young Adults: Molecular Profiling, Multidrug Testing and MSC Interaction Studies - ALARM3","ALARM3","Inclusion Criteria:\n\n* 0-25 years old\n* Newly diagnosed de novo or secondary Acute Myeloid Leukemia (AML) or\n* Relapsed or refractory AML or\n* Patients with genetic predisposition to develop AML or\n* Patients without haematological malignancy nor AML genetic predisposition syndrome who undergo bone marrow aspirate as part of standard of care\n* Signed informed consent of parents for patients aged less than 18 years old or signed informed consent of the patient for patients aged 18 and over.\n\nExclusion Criteria:\n\n* Refuse to participate\n* Chronic myeloid leukemia (CML)\n* Lack of health insurance (French social security)\n* Under protection (tutelle, curatelle or sauvegarde de justice)\n* Pregnancy or breastfeeding","25 Years",{"count":413,"type":22},500,"Pediatric acute myeloid leukemias are disease with poor prognosis (overall survival of 60-75%) and high relapse rate of 35-45% require further understanding of the underlying biological mechanisms.\n\nThe main objective of this study is to establish a biological collection to evaluate the genomic profiling of leukemic cells from primary blasts at diagnosis and\u002For relapse to improve identification of the main genetic hits involved in resistance and could predict a high risk of relapse. Other objectives include the study of bone marrow mesenchymal stem cells and ex vivo drug testing.",[416,28],"Acute Myeloid Leukemia","2024-06-24",{"date":419,"type":41},"2024-06-26",{"date":421,"type":41},"2023-05-31",{"date":423,"type":22},"2033-05-31",{"name":425,"class":48},"Assistance Publique - Hôpitaux de Paris",28,{"id":428,"slug":429,"hasResults":11,"nctId":430,"briefTitle":431,"officialTitle":432,"acronym":433,"eligibilityCriteria":434,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":435,"targetDuration":247,"studyType":140,"phases":4,"briefSummary":437,"conditions":438,"keywords":439,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":442,"lastUpdatePostDateStruct":443,"startDateStruct":445,"completionDateStruct":447,"leadSponsor":449,"locationsCount":49},"100490068","ahc-ballana-heart-study-100490068","NCT05661318","AHC Ballana Heart Study","Aswan Heart Centre - Ballana Heart Study","AHC-BHS","Inclusion criteria:\n\n* Residents of Ballana from the 1,200 randomly selected households\n* Participants must have a valid National ID card\n* Written informed consent\n\nExclusion criteria:\n\n• Residents who are younger than 18 years",{"count":436,"type":22},5000,"This Study is designed to assess CVD incidence, prevalence, progression and related risk factors, including genetic background. It will provide an important base for all cardiovascular research activities in our centre and help in designing future studies and guide policy.",[28],[440,441],"genetics","Cardiovascular risks","2024-05-24",{"date":444,"type":41},"2024-05-29",{"date":446,"type":41},"2018-01-01",{"date":448,"type":22},"2055-01-31",{"name":450,"class":48},"Magdi Yacoub Heart Foundation",{"id":452,"slug":453,"hasResults":11,"nctId":454,"briefTitle":455,"officialTitle":455,"acronym":456,"eligibilityCriteria":457,"healthyVolunteers":11,"sex":57,"minAge":4,"maxAge":4,"enrollmentInfo":458,"targetDuration":4,"studyType":23,"phases":460,"briefSummary":461,"conditions":462,"keywords":463,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":468,"lastUpdatePostDateStruct":469,"startDateStruct":471,"completionDateStruct":473,"leadSponsor":475,"locationsCount":49},"100420881","genome-based-management-of-patients-in-precision-medicine-ge-med-towards-a-genomic-health-program-100420881","NCT04760522","Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program","GE-MED","Inclusion Criteria:\n\n* Unclear molecular cause of the disease\n* Suspected genetic cause of the disease\n\nExclusion Criteria:\n\n* Missing informed consent of the patient and if applicable the legal representative\n* Previously performed WES or panel analysis",{"count":459,"type":22},12000,[63],"The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).\n\nThe novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented.\n\nThe overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.",[302,28],[302,118,464,465,466,467],"Whole Exome Sequencing (WES)","Whole Genome Sequencing (WGS)","Familial cancer syndromes","Polygenic Risk Scores (PRS)","2023-11-28",{"date":470,"type":41},"2023-11-29",{"date":472,"type":41},"2021-06-01",{"date":474,"type":22},"2027-07",{"name":314,"class":48},{"id":477,"slug":478,"hasResults":11,"nctId":479,"briefTitle":480,"officialTitle":481,"acronym":482,"eligibilityCriteria":483,"healthyVolunteers":11,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":484,"targetDuration":4,"studyType":23,"phases":486,"briefSummary":487,"conditions":488,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":491,"lastUpdatePostDateStruct":492,"startDateStruct":494,"completionDateStruct":496,"leadSponsor":498,"locationsCount":49},"100517675","mutational-oncology-in-clinical-practice-100517675","NCT06020625","Mutational Oncology in Clinical Practice","Mutational Oncology in Clinical Practice: Development of a Comprehensive Cancer Genome Profile Pathway.","FPG-500","\\- Patients with neoplasm of the lung, breast, ovary, pancreas, prostate, colorectum, melanoma, GIST, thyroid neoplasm, endometrium, and cholangiocarcinoma:\n\n1. BREAST Locally advanced or metastatic, hormone-responsive, HER2-negative breast neoplasm, progressing after endocrine therapy.\n2. LUNG Metastatic disease.\n3. OVARY Any stage of nonmucinous, non-borderline epithelial carcinoma of the ovary, fallopian tube, or primary peritoneal carcinoma.\n4. PANCREAS Metastatic disease.\n5. PROSTATE Metastatic castration-resistant disease.\n6. COLORECTUM Metastatic disease.\n7. MELANOMA Stage IV or stage III undergoing surgery.\n8. GIST Profiling of c-KIT in case of metastatic disease or for patients undergoing surgery and of PDGFRα for all patients with inoperable or metastatic disease.\n9. THYROID\n10. ENDOMETRIUM\n11. CHOLANGIOCARCINOMA",{"count":485,"type":22},20000,[63],"The study of biological profiling is of fundamental importance in the diagnosis and treatment of many diseases, particularly oncological ones, and for this reason, the integration of molecular characterization into clinical practice becomes essential. NGS allows a high number of samples to be sequenced simultaneously, generating a great deal of genomic information in a short time and at reasonable cost. This information is of fundamental importance for the study of oncogenic drivers and gene alterations that may have a prognostic and\u002For predictive role in response to new molecularly targeted drugs.\n\nPoliclinico A. Gemelli has begun a process of internal reorganization of the research infrastructure following its recognition in 2018 as an Institute of Hospitalization and Treatment with Scientific Character (IRCCS) for its commitment to the disciplines of \"Personalized Medicine\" and \"Innovative Biotechnology.\" In particular, with regard to genomics, will be equipped with a state-of-the-art technological asset that includes a fully automated process for sample preparation and the highest gene sequencing power available today. This condition makes it possible to perform extensive genomic profiling for large numbers of patients at low cost and in reasonable time.",[489,28,490],"Genome Instability","Gene Rearrangement","2023-08-30",{"date":493,"type":41},"2023-08-31",{"date":495,"type":41},"2022-01-01",{"date":497,"type":22},"2032-01",{"name":499,"class":48},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS",{"id":501,"slug":502,"hasResults":11,"nctId":503,"briefTitle":504,"officialTitle":505,"acronym":506,"eligibilityCriteria":507,"healthyVolunteers":11,"sex":57,"minAge":508,"maxAge":509,"enrollmentInfo":510,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":511,"conditions":512,"keywords":519,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":523,"lastUpdatePostDateStruct":524,"startDateStruct":526,"completionDateStruct":528,"leadSponsor":530,"locationsCount":376},"100423060","development-of-a-predictive-model-for-the-risk-of-metastatic-disease-in-ppgls-a-retrospective-cohort-study-100423060","NCT04788927","Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study","Development of a Comprehensive Predictive Model for Risk of Metastatic Disease in PPGLs Based on a Combination of Clinical, Biochemical, Genetic, and Pathoanatomical Characteristics a Retrospective National Cohort Study","PPGL-Pred","Inclusion Criteria:\n\n* All Danish patients diagnosed with PPGLs or genetic variants that predispose to PPGLs since 1996 will be included.\n\nExclusion Criteria:\n\n* None from the initial data collection. If there are no tumour tissue or blood samples from a patient in the biobanks they will subsequently be excluded.","0 Years","120 Years",{"count":327,"type":22},"Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late. Approximately 50 % of the tumours are caused by germline genetic variants screening programmes are recommended for patients and their family members; however, they are not yet well-targeted with respect to individual prognosis. In this study the investigatorscaim to characterize the genotype-phenotype associations in all Danish patients (n=400) diagnosed with PPGLs who have been followed in tertiary centres using medical records and national registries. To this end novel immunohistochemical, genetic, and epigenetic biomarkers in tumour tissues samples from biobank material (blood samples and tumour tissue) will be investigated to develop a comprehensive predictive algorithm for disease prognosis. The study will provide a clinical tool for an improved targeted screening program and subsequently prevention of disease development.",[513,514,28,515,516,517,518],"Paraganglioma","Pheochromocytoma","Pathology","Somatic Mutation","Head and Neck Cancer","Neuroendocrine Tumors",[513,520,521,515,522],"Phaeochromocytoma","Clinical genetics","Translational research","2023-04-06",{"date":525,"type":41},"2023-04-07",{"date":527,"type":22},"2023-10-01",{"date":529,"type":22},"2027-09-30",{"name":531,"class":48},"Rigshospitalet, Denmark",{"id":533,"slug":534,"hasResults":11,"nctId":535,"briefTitle":536,"officialTitle":536,"acronym":537,"eligibilityCriteria":538,"healthyVolunteers":16,"sex":57,"minAge":58,"maxAge":4,"enrollmentInfo":539,"targetDuration":541,"studyType":140,"phases":4,"briefSummary":542,"conditions":543,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":544,"lastUpdatePostDateStruct":545,"startDateStruct":547,"completionDateStruct":549,"leadSponsor":551,"locationsCount":49},"100490067","aswan-heart-centre---egyptian-healthy-volunteers-100490067","NCT05661305","Aswan Heart Centre - Egyptian Healthy Volunteers","AHC-EHVol","* Inclusion Criteria:\n\n  * Any adult Egyptian citizen subject that considers him\u002Fherself free of cardiovascular disease.\n* Exclusion Criteria:\n\n  * Individuals under 18 years of age\n  * Known cardiovascular disease\n  * Known collagen vascular disease\n  * Individuals with communication difficulties, or who do not wish to participate\n  * Pregnancy\n  * Contraindication to MRI\n  * Family history of sudden death\n  * Family history of a familial cardiomyopathy\n  * Family history of premature coronary artery disease (males \\\u003C40 years, females \\\u003C50 years).\n* Withdrawal Criteria:\n\n  * Withdrawal of consent.",{"count":540,"type":22},1000,"5 Years","To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry.",[28],"2022-12-14",{"date":546,"type":41},"2022-12-22",{"date":548,"type":41},"2019-01-01",{"date":550,"type":22},"2030-01-31",{"name":450,"class":48},{"id":553,"slug":554,"hasResults":11,"nctId":555,"briefTitle":556,"officialTitle":557,"acronym":558,"eligibilityCriteria":559,"healthyVolunteers":11,"sex":57,"minAge":4,"maxAge":560,"enrollmentInfo":561,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":563,"conditions":564,"keywords":567,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":575,"lastUpdatePostDateStruct":576,"startDateStruct":578,"completionDateStruct":580,"leadSponsor":582,"locationsCount":402},"100431874","cancer-predisposition-testing-by-family-based-whole-genome-sequencing-wgs-in-every-child-with-newly-diagnosed-cancer-100431874","NCT04903782","Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer","Assessment of the Utility of Family-based (Trio) Whole-genome Sequencing for Cancer Predisposition Testing in Sequential Newly Diagnosed Paediatric and Adolescent Cancer Patients","PREDICT","* New diagnosis of malignancy\n* Age ≤ 21 years\n* Written informed consent\n\nPsychosocial component:\n\n* Participants (≥ 12 years)\n* Parent\u002Fcaregiver(s) of participants\n* Healthcare professionals involved in the care of patients enrolled in the study","21 Years",{"count":562,"type":22},270,"Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients",[565,566,28],"Neoplastic Syndromes, Hereditary","Cancer",[568,569,570,571,572,573,574],"Germ-line Mutation","Disease Susceptibility","Child","Pediatrics","Genomics","Next Generation Sequencing","Risk","2022-11-02",{"date":577,"type":41},"2022-11-04",{"date":579,"type":41},"2021-03-08",{"date":581,"type":22},"2028-06-15",{"name":583,"class":48},"Sydney Children's Hospitals Network",{"id":585,"slug":586,"hasResults":11,"nctId":587,"briefTitle":588,"officialTitle":588,"acronym":4,"eligibilityCriteria":589,"healthyVolunteers":11,"sex":57,"minAge":384,"maxAge":4,"enrollmentInfo":590,"targetDuration":4,"studyType":140,"phases":4,"briefSummary":591,"conditions":592,"keywords":594,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":597,"lastUpdatePostDateStruct":598,"startDateStruct":600,"completionDateStruct":601,"leadSponsor":603,"locationsCount":4},"100303745","a-prognosis-and-predicting-genetic-study-of-lung-cancer-100303745","NCT03234179","A Prognosis and Predicting Genetic Study of Lung Cancer","Inclusion Criteria:\n\n1. The patient's family (within third-degree relatives) has at least one diagnosed of primary non-small cell lung cancer.\n2. The patient was diagnosed of primary non-small cell lung cancer at the age \\\u003C 45 years old.\n\nExclusion Criteria:\n\n1. Patients without the diagnosis of primary non-small cell lung cancer.\n2. Patients who are combined with other malignancy and ongoing chemotherapy \u002F radiation therapy.\n3. Patients combined with coagulopathy.",{"count":413,"type":22},"Lung cancer is a leading cause of cancer mortality among adults worldwide. The incidence rates of lung cancer among never smoking females in some parts of East Asia are among the highest in the world. The adenocarcinoma of lung being the most frequently identified histological type is more weakly associated with smoking, and often occurs in females and never-smokers. Although family history of lung cancer has been associated with histological subtypes, the inherited susceptibility factors that affect specific histology are unknown.\n\nGenetic factors that determine individual predisposition to lung cancer have been identified via genome-wide association studies. These known common loci, however, explain only a small fraction of the familial risk of lung cancer. The hypothesis of this study is that there are genetic factors that confer inherited susceptibility among patients with primary non-small-cell lung cancer (NSCLC).",[593,28],"Lung Cancer",[595,596],"Non small cell lung cancer","Genetic study","2017-07-30",{"date":599,"type":41},"2017-08-01",{"date":599,"type":22},{"date":602,"type":22},"2037-08-01",{"name":604,"class":48},"National Taiwan University Hospital"]