[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"somatic-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:somatic-mutation":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,46,107,135,164,188,218],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":30,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100584924","ucsf-biobank-for-hereditary-cancers-and-tumor-associated-mutations-100584924",false,"NCT06895681","UCSF Biobank for Hereditary Cancers and Tumor-Associated Mutations","UCSF Biobank for Studying Hereditary Cancers and Tumor-Associated Mutations","Inclusion Criteria:\n\nFor participants undergoing collection of tissue, ascites, and\u002For pleural effusions:\n\n1. Ability to understand and willingness to voluntarily sign a written informed consent document prior to any study-related assessments or procedures are conducted.\n2. Individuals 18 years of age or older on the day of signing informed consent.\n3. Individuals with solid tumor malignancy with germline or somatic cancer-associated mutations and\u002For Individuals with a family history or personal history of cancer.\n4. Must be planning to undergo one of the following procedures as part of their routine care (or as a research procedure under a UCSF-sponsored IIT protocol):\n\n   1. Surgical resection\n   2. Biopsy (open, incisional, excisional, punch, core needle, and\u002For fine needle aspiration (FNA) are all permitted)\n   3. Paracentesis\n   4. Thoracentesis\n\nFor participants undergoing blood banking:\n\n1. Ability to understand and willingness to voluntarily sign a written informed consent document prior to any study-related assessments or procedures are conducted.\n2. Individuals 18 years of age or older on the day of signing informed consent.\n3. Individuals with a family history or personal history of cancer.\n4. Must be planning to undergo a blood draw as part of their routine care (or as a research procedure under a University of California, San Francisco (UCSF) -sponsored investigator-initiated trial (IIT) protocol); or willing to undergo an additional blood draw outside of their routine care.\n\nExclusion Criteria:\n\n1\\. Known history of HIV, Hepatitis B, or Hepatitis C (as documented in the medical record) or other infectious disease that in the judgment of the investigator could pose a risk to research personnel or mice, or negatively impact Patient derived xenografts (PDX) tumor engraftment.","ALL","18 Years",{"count":19,"type":20},50000,"ESTIMATED","10 Years","OBSERVATIONAL","This is a non-therapeutic clinical research biorepository protocol designed to obtain, store, and clinically annotate biospecimens from participants with hereditary cancers. Those biospecimens will be used to generate participant-derived tumor models that will serve as a resource to better understand hereditary cancers and develop new efficient therapies.",[25,26,27,28,29],"Solid Tumor","Solid Tumor, Adult","Somatic Mutation","Solid Tumor, Unspecified, Adult","Hereditary Cancer",[31,32],"Germline Mutations","Tumor-Associated Mutations","NOT_YET_RECRUITING","2026-04-28",{"date":36,"type":37},"2026-05-04","ACTUAL",{"date":39,"type":20},"2026-08-31",{"date":41,"type":20},"2035-12-31",{"name":43,"class":44},"University of California, San Francisco","OTHER",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":53,"enrollmentInfo":54,"targetDuration":4,"studyType":56,"phases":57,"briefSummary":59,"conditions":60,"keywords":84,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":45},"100495785","phase-2-mt2021-08t-cell-receptor-alphabeta-depletion-pbsc-transplantation-for-heme-malignancies-100495785","NCT05735717","MT2021-08T Cell Receptor Alpha\u002FBeta Depletion PBSC Transplantation for Heme Malignancies","Phase II, Open-Label, Prospective Study of T Cell Receptor Alpha\u002FBeta Depletion (A\u002FB TCD) Peripheral Blood Stem Cell (PBSC) Transplantation for Children and Adults With Hematological Malignancies","Inclusion Criteria:\n\n* Histological confirmation of hematological malignancies\n* Acute leukemias\n* Acute Myeloid Leukemia (AML) and related precursor neoplasms\n* Favorable risk AML is defined as having one of the following:\n* Acute lymphoblastic leukemia (ALL)\u002Flymphoma\n* Myelodysplasia (MDS) IPSS INT-2 or High Risk (i.e. RAEB, RAEBt) or Refractory Anemia with severe pancytopenia, transfusion dependence, or high risk cytogenetics or molecular features.\n* Age 60 years of age or younger at the time of consent\n* Karnofsky performance status ≥ 70% or Lansky play score 50% for ≤16 years of age.\n* Adequate organ function\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding.\n* Active uncontrolled infection within 1 week of starting preparative therapy\n* Known seropositive for HIV or known active Hepatitis B or C infection with detectable viral load by PCR.\n* Any prior autologous or allogeneic transplant\n* CML blast crisis\n* Active central nervous system malignancy","60 Years",{"count":55,"type":20},70,"INTERVENTIONAL",[58],"PHASE2","This is a phase II, open-label, prospective study of T cell receptor alpha\u002Fbeta depletion (TCR α\u002Fβ TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies. This is a safety\u002Ffeasibility study of the investigational procedure\u002Fproduct.",[61,62,63,64,65,66,67,68,69,70,71,72,73,27,74,75,76,77,78,79,80,81,82,83],"Hematologic Malignancy","Acute Leukemia","Remission","Acute Myeloid Leukemia","Acute Lymphoblastic Leukemia","AML","TP53","Intrachromosomal Amplification of Chromosome 21","Cytogenetic Abnormality","CNS Leukemia","Minimal Residual Disease","Myelodysplasia","Juvenile Myelomonocytic Leukemia","PTPN11 Gene Mutation","N-RAS Gene Amplification","Neurofibromatosis 1","NF1 Mutation","CBL Gene Mutation","Monosomy 7","Chromosome Abnormality","Fetal Hemoglobin","Lymphoblastic Lymphoma","High Grade Non-Hodgkin's Lymphoma, Adult",[85,86,87,88,89,90,91,92,93,94,95,96],"Bu","Flu","G-CSF","GFSR","aGVHD","HCT","MAC","Mel","PBSCT","PTLD","RECIST","TCR","RECRUITING","2026-03-31",{"date":100,"type":37},"2026-04-06",{"date":102,"type":37},"2023-05-11",{"date":104,"type":20},"2030-11-30",{"name":106,"class":44},"Masonic Cancer Center, University of Minnesota",{"id":108,"slug":109,"hasResults":11,"nctId":110,"briefTitle":111,"officialTitle":112,"acronym":4,"eligibilityCriteria":113,"healthyVolunteers":114,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":115,"targetDuration":4,"studyType":56,"phases":117,"briefSummary":119,"conditions":120,"keywords":121,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":45},"100543590","linking-somatic-mutation-rate-with-baseline-exposure-in-east-palestine-100543590","NCT06357845","Linking Somatic Mutation Rate With Baseline Exposure in East Palestine","Healthy Futures Research Study: Linking Somatic Mutation Rate With Baseline Exposure in East Palestine","Inclusion Criteria:\n\n* Residence on February 3rd, 2023 in Columbiana County, Ohio, Mahoning County, Ohio, Beaver County, PA, or Lawrence County, PA.\n* Current residence in the United States.\n\nExclusion Criteria:\n\n* Address provided for February 3rd, 2023 not in Columbiana County, Ohio, Mahoning County, Ohio, Beaver County, PA, or Lawrence County, PA\n* Invalid address provided for February 3rd, 2023 residence.",true,{"count":116,"type":20},500,[118],"NA","The goal of this study is to This research team is conducting this study to develop methods to measure the biological impact of exposure to the chemicals released following the February 3, 2023 train derailment on residents of East Palestine, Ohio, and surrounding communities. The main question it aims to answer is:\n\n* What biological impact will be measured based on DNA damage?\n* In participants who provide a biospecimen, how are biomarker changes related to proximity to the derailment and variations in residents' health histories and behaviors?\n\nParticipants will:\n\n* Complete a brief survey asking about experiences related to the February 3, 2023 train derailment, health experiences, and concerns following the derailment, and background information regarding health history.\n* Possibly contribute biospecimens such as blood, spit, hair, and\u002For toenail clippings.\n* Receive communication about study updates and future research opportunities.\n* A total of 40 study participants will be recruited to participate in a 90-minute interview. The interviews will be video and audio recorded.",[27],[122,123,124,125],"East Palestine","Train Derailment","Healthy Futures Research Study","Environmental Impact","2026-03-13",{"date":128,"type":37},"2026-03-16",{"date":130,"type":37},"2024-08-16",{"date":132,"type":20},"2026-09-30",{"name":134,"class":44},"Case Comprehensive Cancer Center",{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":139,"acronym":140,"eligibilityCriteria":141,"healthyVolunteers":114,"sex":16,"minAge":142,"maxAge":143,"enrollmentInfo":144,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":146,"conditions":147,"keywords":152,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":154,"lastUpdatePostDateStruct":155,"startDateStruct":157,"completionDateStruct":159,"leadSponsor":161,"locationsCount":45},"100467248","molecular-diagnosis-of-systemic-autoinflammatory-diseases-100467248","NCT05364294","Molecular Diagnosis of Systemic Autoinflammatory Diseases","SAIDiag","Inclusion Criteria:\n\n* A patient presenting with a clinical and biological aseptic inflammatory syndrome associating one or more of the following signs: spontaneously resolving fever, abdominal (pain, diarrhea), locomotor (arthralgia, myalgia), thoracic (pain, pericarditis), cutaneous, sensory (uveitis, deafness), or renal (amyloidosis) involvement.\n\nExclusion Criteria:\n\n* Adult subject to legal protection measures (guardianship, curatorship, safeguard of justice).","1 Week","120 Years",{"count":145,"type":20},300,"Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.",[148,149,27,150,151],"Inflammatory Disease","Genetic Disease","Molecular Sequence Variation","Molecular Pathway Deregulation",[153],"Biomarkers","2026-03-04",{"date":156,"type":37},"2026-03-05",{"date":158,"type":37},"2022-05-18",{"date":160,"type":20},"2033-05-02",{"name":162,"class":163},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"id":165,"slug":166,"hasResults":11,"nctId":167,"briefTitle":168,"officialTitle":169,"acronym":4,"eligibilityCriteria":170,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":171,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":173,"conditions":174,"keywords":4,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":178,"lastUpdatePostDateStruct":179,"startDateStruct":181,"completionDateStruct":183,"leadSponsor":185,"locationsCount":45},"100520263","somatic-mosaicism-in-twins-discordant-for-childhood-cancer-100520263","NCT06054295","Somatic Mosaicism in Twins Discordant for Childhood Cancer","Somatic Mosaicism in Twins Discordant for Childhood Cancer: a Pilot Study","Inclusion Criteria:\n\n* Newly diagnosed patient with CNS tumor or have recurrent disease and enrolled on APEC14B1.\n* Patient must have same sex twin. Note: (history of) treatment on a COG therapeutic trial is not required.\n* Patients must be diagnosed at \\\u003C 19 years of age at the time of diagnosis.\n* A family is eligible to participate if the twin with the CNS tumor is deceased but has a blood sample banked through APEC14B1.\n* All patients and\u002For their parents or legal guardians must provide informed consent. Assent will be obtained for participants between the ages of 8-17 years.\n* All institutional, FDA, and NCI requirements for human studies must be met.",{"count":172,"type":20},50,"Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date. This pilot study will focus on twins with central nervous system (CNS) tumors who are identified through the Children's Oncology Group's Project: EveryChild (PEC) registry or volunteer.",[175,176,177,27],"Pediatric Central Nervous System Tumor","Central Nervous System Tumor","Discordant Twin","2025-12-11",{"date":180,"type":37},"2025-12-16",{"date":182,"type":37},"2024-06-03",{"date":184,"type":20},"2027-06-30",{"name":186,"class":187},"Children's Oncology Group","NETWORK",{"id":189,"slug":190,"hasResults":11,"nctId":191,"briefTitle":192,"officialTitle":193,"acronym":4,"eligibilityCriteria":194,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":195,"enrollmentInfo":196,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":198,"conditions":199,"keywords":203,"overallStatus":97,"whyStopped":4,"lastUpdateSubmitDate":209,"lastUpdatePostDateStruct":210,"startDateStruct":212,"completionDateStruct":214,"leadSponsor":216,"locationsCount":45},"100208734","a-retrospective-study-of-egfr-tkisgefitinib-erlotinib-and-osimertinib-in-nsclc-patients-treatment-100208734","NCT01994057","A Retrospective Study of EGFR-TKIs,Gefitinib, Erlotinib and Osimertinib in NSCLC Patients Treatment","Retrospective Study Based on Somatic Mutations, Genetic Polymorphisms and Metabolomics Related to Individual Variations of Drug Effect and Adverse Drug Reaction of EGFR-TKIs,Gefitinib and Erlotinib in Non-small Cell Lung Cancer Treatment.","Inclusion Criteria:\n\nThe main patient entry criteria included: age≥ 18 years ; histologically and cytologically proved NSCLC; Eastern cooperative oncology group performance status (ECOG PS)≤2; adequate hematological , renal, and hepatic functions. Exclusion Criteria:\n\nuncontrolled systemic disease ,any evidence of clinically active interstitial lung diseases, and other chemotherapy at the time of inclusion. The protocol was approved by the Ethical Committee of Cancer Center of Sun Yat-Sen University (CCSU), and written informed consent was obtained form each patient.","85 Years",{"count":197,"type":20},1000,"For patients of advanced NSCLC (non small cell lung cancer) , Individualized cancer therapy has been widely accepted since the success of crizotinib administration based on EML4-ALK fusion gene detection and gefitinib and erlotinib administration based on EGFR-TKIs sensitive mutations.From clinical points of view ,individual differences often occur between different patients, leading diverse effect in ADR and drug effect.Meanwhile ,the drug effect and adverse drug reaction was significantly influenced by the pharmacokinetic factors and pharmacodynamic factors.In this research ,we try to establish a more sensitive method to detect sensitive mutations in plasma and discover the correlation between somatic and germline mutations , trough concentration and EGFR-TKI drug effect, the association between ADME-associated SNP ,trough concentration and EGFR-TKI adverse effect .Furthermore, in vivo and in vitro research is also crucial for rational explanation for these clinical phenomenon.",[200,201,202,31,27],"Non-small Cell Lung Cancer (NSCLC)","EGFR-TKI Resistant Mutation","EGFR-TKI Sensitizing Mutation",[204,205,206,207,208],"Non-small cell lung cancer (NSCLC);","EGFR-TKI;","Pharmacogenetics;","Precision medicine","somatic mutations ,germline mutations;","2023-04-10",{"date":211,"type":37},"2023-04-12",{"date":213,"type":4},"2012-09",{"date":215,"type":20},"2026-12",{"name":217,"class":44},"Sun Yat-sen University",{"id":219,"slug":220,"hasResults":11,"nctId":221,"briefTitle":222,"officialTitle":223,"acronym":224,"eligibilityCriteria":225,"healthyVolunteers":11,"sex":16,"minAge":226,"maxAge":143,"enrollmentInfo":227,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":229,"conditions":230,"keywords":237,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":241,"lastUpdatePostDateStruct":242,"startDateStruct":244,"completionDateStruct":246,"leadSponsor":248,"locationsCount":250},"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",{"count":228,"type":20},400,"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.",[231,232,233,234,27,235,236],"Paraganglioma","Pheochromocytoma","Genetic Predisposition to Disease","Pathology","Head and Neck Cancer","Neuroendocrine Tumors",[231,238,239,234,240],"Phaeochromocytoma","Clinical genetics","Translational research","2023-04-06",{"date":243,"type":37},"2023-04-07",{"date":245,"type":20},"2023-10-01",{"date":247,"type":20},"2027-09-30",{"name":249,"class":44},"Rigshospitalet, Denmark",2]