[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-mutations\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-mutations":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,48,85,123],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":28,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100327096","vascular-disease-discovery-protocol-100327096",false,"NCT03538639","Vascular Disease Discovery Protocol","* INCLUSION CRITERIA:\n* All subjects must be between the ages of 2-100 years old.\n* Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.\n* Unaffected related pregnant women (including spouses\u002Fpartners) for cord blood and tissue collection (surgical waste) only at the time of delivery.\n\nEXCLUSION CRITERIA:\n\n* Healthy volunteers unable to give informed consent\n* Healthy volunteers who decline to have blood drawn and\u002For tissue studies or who do not consent to have samples stored for future research.\n* Cognitively impaired individuals who are not affected.\n* Cognitively impaired individuals not related to affected subjects.\n* Unaffected unrelated pregnant women.",true,"ALL","2 Years","100 Years",{"count":20,"type":21},1000,"ESTIMATED","OBSERVATIONAL","Background:\n\nSome genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and\u002For blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people.\n\nObjective:\n\nTo study diseases of the heart and\u002For blood vessels.\n\nEligibility:\n\nPeople age 2 and older who may have genetic disease affecting the heart and\u002For blood vessels Their relatives\n\nHealthy volunteers\n\nDesign:\n\nParticipants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include:\n\nPhotographs of the face and body\n\nHeart tests\n\nSamples taken of blood, urine, saliva, skin, and\u002For tissue\n\nScans. For some, a dye may be injected into a vein.\n\nA six-minute walk test\n\nLung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan.\n\nStress tests while walking on a treadmill or riding a stationary bike\n\nUltrasound of veins and arteries\n\nDevices outside the body testing the stiffness and function of arteries\n\nEye exam and eye tests. For some, a dye may be injected in a vein.\n\nBlood pressure tests\n\nMeasurements of blood flow under the skin and in the arms and fingernail blood vessels\n\nDevices outside the body testing flexibility of the blood vessels and skin, and skin temperature",[25,26,27],"Vascular Dysfunction","Genetic Mutations","Genetic Predisposition",[29,30,31,32,33,34],"Etiology of Rare and Orphan Diseases with Vascular Phenotype","Natural History of Rare and Orphan Diseases with Vascular Phenotype","Pathophysiology of Uncommon Vascular Diseases","Undiagnosed Diseases","Rare Human Diseases with Vascular Features","Natural History","RECRUITING","2026-06-24",{"date":38,"type":39},"2026-06-25","ACTUAL",{"date":41,"type":39},"2018-07-30",{"date":43,"type":21},"2037-05-15",{"name":45,"class":46},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",1,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":4,"enrollmentInfo":56,"targetDuration":58,"studyType":22,"phases":4,"briefSummary":59,"conditions":60,"keywords":66,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":84},"100268556","pancreas-registry-and-high-risk-registry-100268556","NCT02775461","Pancreas Registry and High Risk Registry","Pancreas Disease and High Risk Registry","Inclusion Criteria:\n\n* At least 1 first degree relative affected with Pancreatic Cancer\n* Any of (BRCA1, BRCA2, PALB2, ATM) mutations + 1 family member with Pancreatic Cancer\n* mFAMMM (p16,CDKN2A mutations) + 1 family member with Pancreatic cancer\n* Known mutation carrier for STK11 (Peutz Jeghers Syndrome)\n* Lynch syndrome (HNPCC) + 1 family PDAC\n* Known mutation carrier for Hereditary pancreatitis\n* Individuals with a history of pancreatic cyst(s) (IPMN's) that measure ≥ 1 cm\n\nExclusion Criteria:\n\n* Patients who do not speak English or Spanish\n* Refusal by patient\n* Individuals under the age of 18 years","18 Years",{"count":57,"type":21},1368,"10 Years","The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of the pancreas, cystic lesions of the pancreas, and patients at high-risk of pancreatic cancer such as those with a family history of pancreatic cancer or with a family history of a syndrome known to be associated with pancreatic cancer. Pancreatic cancer is the fourth leading cause of death from cancer in the United States. However, little is known about the development of pancreatic cancer and pancreatic diseases in individuals with the above conditions. Knowledge of how family history, environmental exposures, and inflammatory lesion of the pancreas contribute to the development of pancreatic cancer and pancreatic diseases is essential.\n\nYou may qualify to take part in this research study because you have inflammation in the pancreas, a pancreatic cyst, pre-cancerous lesions of the pancreas, pancreatic cancer, a family history of pancreatic cancer, or a family history of a syndrome known to be associated with pancreatic cancer.\n\nWe will also be collecting a blood sample from all participants for DNA isolation. Sometimes we are born with genes or DNA that give us an increased or decreased chance of developing an illness later in life. Genetic material will be isolated from your blood for further study. You may also choose to provide additional blood samples for serum and plasma extraction. Serum and plasma are components of the blood which can be used to measure indicators of disease in the blood, called biomarkers,for pancreatic diseases. Clinical data and biological specimens contained in this study may be used for a wide variety of future related studies to the cause, diagnosis, outcome and treatment of pancreatic cancer.\n\nFunds for conducting this research are provided by Mount Sinai.",[61,62,63,64,65,26],"Pancreas Cancer","Pancreatitis","Chronic Pancreatitis","Pancreatic Cyst","Family History of Pancreas Cancer",[61,63,64,67,68,69,70,71,72,62,65,73],"BRCA1","BRCA2","Lynch Syndrome","Peutz-Jeghers syndrome","ATM mutation","FAMMM Syndrome","Family History of Cancer","2026-02-09",{"date":76,"type":39},"2026-02-11",{"date":78,"type":39},"2013-03-01",{"date":80,"type":21},"2033-01",{"name":82,"class":83},"Icahn School of Medicine at Mount Sinai","OTHER",2,{"id":86,"slug":87,"hasResults":11,"nctId":88,"briefTitle":89,"officialTitle":90,"acronym":4,"eligibilityCriteria":91,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":92,"enrollmentInfo":93,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":95,"conditions":96,"keywords":105,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":119,"leadSponsor":121,"locationsCount":47},"100618256","investigating-phenotypic-epigenetic-and-neurogenetic-traits-in-rare-and-ultra-rare-neurodevelopmental-disorders-project-penguin-100618256","NCT07329257","Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)","Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders","For those with a rare condition:\n\nInclusion Criteria:\n\n* Diagnosed or suspected neurogenetic disorder\n* Individuals 0-99\n\nExclusion Criteria:\n\n* Individuals unwilling or unable to complete visits with the study team.\n\nFor control parents\u002Fcaregivers of those with a rare condition:\n\nInclusion Criteria:\n\n* No history of a neurological disorder.\n* \\>18 years.\n* Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.\n\nExclusion Criteria:\n\n* Individuals unwilling or unable to complete the visit with the study team.\n* Individuals who have a history of neurological disorders.\n* \\\u003C 18 years old\n\nFor all individuals who participate in the skin biopsy:\n\n* Individuals with disease that is known to be associated with poor wound healing.\n* Individuals with a history of allergic reaction to lidocaine.\n* Medical History of cellulitis, diabetes mellitus, poor extremity circulation, deep vein thrombosis, or a history of non-traumatic amputation.\n* Currently taking anticoagulation or have taken with last 6 months","99 Years",{"count":94,"type":21},100,"Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments.\n\nNatural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.",[97,98,99,100,101,102,26,103,104],"Baker Gordon Syndrome","Rare Neurodevelopmental Conditions","Rare Neurogenetic Conditions","Syt-1 Disorder","Epilepsy","Seizure","Autism in Children","Developmental Delay (Disorder)",[97,106,107,108,109,110,111,112,113],"BAGOS","Rare Conditions","Rare","Neurogenetic","Neurodevelopmental","Ultra-rare","Genetic mutation","Autism","2025-12-28",{"date":116,"type":39},"2026-01-09",{"date":118,"type":39},"2025-12-04",{"date":120,"type":21},"2028-12",{"name":122,"class":83},"University of Missouri-Columbia",{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":128,"acronym":4,"eligibilityCriteria":129,"healthyVolunteers":15,"sex":16,"minAge":130,"maxAge":131,"enrollmentInfo":132,"targetDuration":4,"studyType":134,"phases":135,"briefSummary":137,"conditions":138,"keywords":142,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":147,"lastUpdatePostDateStruct":148,"startDateStruct":150,"completionDateStruct":152,"leadSponsor":154,"locationsCount":47},"100537410","effect-of-mutations-in-t2dm-susceptibility-genes-on-the-expression-of-susceptibility-genes-in-patients-with-t2dm-and-controls-100537410","NCT06277466","Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls","Department of Pharmacy, the Affiliated Hospital of Xuzhou Medical University","Inclusion Criteria:\n\n1. no drug therapy; 25 to 70 years old; Hemoglobin A1c (HbA1c) 7%-12%; BMI 20-35 kg\u002Fm2; Stable body weight (≤10% change within 3 months)（For newly diagnosed patients with T2DM）.\n2. 25 to 60 years old; BMI 19-26 kg\u002Fm2; in good health, with no abnormalities of motor system, digestive system, respiratory system, urogenital system, blood system, circulatory system, nervous\u002Fmental system, endocrine system, etc（For healthy subjects）.\n3. 20-80 years old; surgical resection of part or all of the pancreas; pancreatic lesions confirmed by enhanced CT or magnetic resonance (MR) examination or confirmed by intraoperative and postoperative pathology（For the patients in general surgical）.\n\nExclusion Criteria:\n\n1. had taken antidiabetic drugs;\n2. had a history of pancreatic surgery;\n3. Complicated with severe organ lesions;\n4. Long-term use of drugs that affect pancreatic function.","25 Years","70 Years",{"count":133,"type":21},300,"INTERVENTIONAL",[136],"NA","In this study, investigators wanted to determine the effect of T2DM susceptibility gene mutations on self-expression.\n\nParticipants (T2DM patients and controls) were recruited to identify genotypes and detect the levels of T2DM susceptibility genes expression in the fresh peripheral plasma. The normal pancreatic tissues or adjacent tissues of pancreatic cancer were also collected to identify the expression differences of T2DM susceptibility genes under different genotypes.",[139,140,26,141],"Type 2 Diabetes Mellitus","Gene Polymorphisms","Susceptibility, Genetic",[143,144,145,146],"T2DM","gene polymorphism","susceptibility gene","genetic mutations","2024-02-25",{"date":149,"type":39},"2024-02-28",{"date":151,"type":39},"2024-01-01",{"date":153,"type":21},"2028-01-31",{"name":155,"class":83},"The Affiliated Hospital of Xuzhou Medical University"]