[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"whole-genome-sequencing\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:whole-genome-sequencing":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,42,63,85],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100472647","whole-genome-sequencing-chromoseq-as-an-adjunct-to-conventional-genomic-profiling-in-mds-100472647",false,"NCT05434598","Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS","A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in MDS","Inclusion Criteria Patient:\n\n* Diagnosis of MDS, or a clinical suspicion for a new diagnosis of MDS, for whom routine diagnostic testing is requested or planned to be requested.\n* Seen in the outpatient setting.\n* Not been previously treated with disease-modifying therapy (such as lenalidomide or hypomethylating agents).\n\nNote: Patients who have received transfusional support, erythropoietin-stimulating agents, growth factor support, or luspatercept are eligible.\n\nAt least 18 years of age.\n\n-Able to understand and willing to sign an IRB approved written informed consent document.\n\nInclusion Criteria Physician:\n\n* Treating physician at Washington University School of Medicine who directs therapy for individuals with hematologic malignancies.\n* Able and willing to complete standardized questionnaires about stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process. (Written documentation of informed consent is not required.)\n\nExclusion Criteria Patient:\n\n-Younger than 18 years of age\n\nExclusion Criteria Physician\n\n-Does not treat patients at Washington University School of Medicine",true,"ALL","18 Years",{"count":20,"type":21},60,"ESTIMATED","INTERVENTIONAL",[24],"NA","This is a single institution, prospective study of the whole genome sequencing assay, ChromoSeq. Using prospectively collected patient data, coupled with physician surveys, the investigators seek to determine the feasibility of implementing ChromoSeq in addition to standard genomic testing, for patients with the diagnosis of myelodysplastic syndrome (MDS).",[27,28],"Whole Genome Sequencing","Myelodysplastic Syndromes","RECRUITING","2025-12-05",{"date":32,"type":33},"2025-12-11","ACTUAL",{"date":35,"type":33},"2022-07-27",{"date":37,"type":21},"2027-08-31",{"name":39,"class":40},"Washington University School of Medicine","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":49,"targetDuration":4,"studyType":22,"phases":51,"briefSummary":52,"conditions":53,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":41},"100438236","whole-genome-sequencing-chromoseq-as-an-adjunct-to-conventional-genomic-profiling-in-aml-and-mds-100438236","NCT04986657","Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS","A Prospective Study of Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS","Inclusion Criteria Patient\n\n* Patient with a clinical suspicion for a new diagnosis of AML or MDS for whom the diagnostic molecular testing via the hematologic molecular algorithm (HMA) at BJH is requested or planned to be requested.\n* Adult patients 18 years or older.\n* Ability to understand and willingness to sign an IRB approved written informed consent document.\n\nInclusion Criteria Physician\n\n* Treating physician at Washington University School of Medicine who directs therapy for individuals with hematologic malignancies.\n* Able and willing to complete standardized questionnaires about usability, and stakeholder perceptions of ChromoSeq during the ChromoSeq implementation process.\n\nExclusion Criteria Patient\n\n* Younger than 18 years of age\n\nExclusion Criteria Physician\n\n* Does not treat patients at Washington University School of Medicine",{"count":50,"type":21},325,[24],"This is a single institution, prospective study of the whole genome sequencing assay, ChromoSeq. Using prospectively collected patient data, coupled with physician surveys, the investigators seek to determine the feasibility of implementing ChromoSeq in addition to standard genomic testing, for patients with the diagnoses of acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS).",[27,54,28],"Acute Myeloid Leukemia","2025-10-14",{"date":57,"type":33},"2025-10-16",{"date":59,"type":33},"2021-09-17",{"date":61,"type":21},"2027-12-31",{"name":39,"class":40},{"id":64,"slug":65,"hasResults":11,"nctId":66,"briefTitle":67,"officialTitle":67,"acronym":4,"eligibilityCriteria":68,"healthyVolunteers":11,"sex":17,"minAge":69,"maxAge":4,"enrollmentInfo":70,"targetDuration":4,"studyType":72,"phases":4,"briefSummary":73,"conditions":74,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":41},"100588971","acquirement-of-clinical-and-genomic-data-to-diagnose-in-rare-inherited-cardiomyopathy-100588971","NCT06948344","Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy","Inclusion Criteria:\n\npatients aged 19 years or older who have provided written consent for participation, have the capability to consent voluntarily and have been diagnosed with cardiomyopathy, as defined by one of the following criteria: -Ones with suspected genetic cardiomyopathy of unknown etiology, meeting at least one of the following conditions: i) Patients with idiopathic cardiomyopathy, for whom no clear secondary causes (e.g., history of hypertension, alcohol abuse, or chemotherapy) can be identified, and in whom a genetic etiology is strongly suspected.\n\nii) Patients who have previously undergone genetic testing using an NGS panel, but no pathogenic variants were identified, and further evaluation with whole genome sequencing (WGS) is warranted.\n\niii) Patients diagnosed with cardiomyopathy before the age of 50, without known contributing factors such as hypertension or excessive alcohol consumption, raising a strong suspicion of a genetic cause.\n\n-Patients with a family history of genetic cardiomyopathy, defined as having at least one first-degree relative (parent, sibling, or child) diagnosed with the same type of cardiomyopathy, confirming a familial genetic pattern.\n\nExclusion Criteria:\n\n* Patients with confirmed ischemic cardiomyopathy (when stenosis of 75% or more of major coronary arteries is confirmed on coronary artery imaging or ischemic cardiomyopathy findings such as transmural LGE on cardiac MRI)\n* Heart failure with other etiologies (e.g., valvular heart disease, endocrine disease)","19 Years",{"count":71,"type":21},560,"OBSERVATIONAL","\"Background Information Cardiomyopathy is one of the leading causes of heart failure. In cases where cardiomyopathy does not respond to guideline-directed medical therapy for heart failure, the disease may progress to a stage where heart transplantation is the only viable treatment option. According to the 2022 Korean Organ Transplant Registry (KOTRY) report, cardiomyopathy accounted for approximately 65% of heart transplant indications in Korea, making it one of the most challenging unresolved issues in modern cardiology. Furthermore, cardiomyopathy is associated with a high risk of sudden cardiac death due to ventricular fibrillation or ventricular tachycardi and implantable cardioverter-defibrillators are often recommended as a preventive measure. Given that sudden cardiac death frequently occurs in young and middle-aged individuals, it is a major public health concern in developed countries such as North America and Western\u002FNorthern Europe, prompting ongoing societal and medical efforts to reduce its burden. The risk of sudden cardiac death imposes a persistent psychological burden on family members of patients with cardiomyopathy. Because sudden death can also occur in children and adolescents, current clinical guidelines recommend early cardiac evaluation and genetic counseling for family members of affected individuals.\n\nThis study seeks to overcome the current limitations in the genetic diagnosis of cardiomyopathy, including the low diagnostic yield of currently available gene panels. To date, most genetic data on cardiomyopathy have been derived from Western populations. There is a significant lack of population-specific genomic data for East Asians, particularly Koreans, making it difficult to interpret the results of genetic testing in Korean patients.\n\nBy developing bioinformatics algorithms that comprehensively analyze whole genome sequencing (WGS) data, including single nucleotide variants (SNVs), insertions\u002Fdeletions (indels), and structural variations, this study aims to generate a reference dataset tailored to the Korean population. This will directly improve the genetic diagnosis of cardiomyopathy in Korean patients. Additionally, by identifying novel pathogenic variants through WGS, this study may elucidate new disease mechanisms underlying cardiomyopathy. These findings could provide a theoretical basis for developing novel diagnostic biomarkers, therapeutic targets, and even gene-based therapies. The present study is part of a multi-phase national research project supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, conducted as a registry cohort titled the \"\"Korean Cardiomyopathy Cohort (KCC)\"\".\n\nObjectives This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data, with the goal of identifying novel diagnostic approaches",[75,27],"Cardiomyopathy","2025-05-12",{"date":78,"type":33},"2025-05-13",{"date":80,"type":33},"2023-10-10",{"date":82,"type":21},"2028-08-22",{"name":84,"class":40},"Yonsei University",{"id":86,"slug":87,"hasResults":11,"nctId":88,"briefTitle":89,"officialTitle":89,"acronym":90,"eligibilityCriteria":91,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":92,"enrollmentInfo":93,"targetDuration":4,"studyType":72,"phases":4,"briefSummary":95,"conditions":96,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":41},"100579214","n-care-project-enhancing-asian-pacific-collaboration-100579214","NCT06821386","N-Care Project: Enhancing Asian-Pacific Collaboration","N-Care project","Inclusion Criteria:\n\n1. Age: infant\u002Fnewborn less than 18 months\n2. Admitted to intensive care unit\n3. At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology\n\n   * Multiple birth defects\n   * Single major malformation that required intervention (surgery or medication)\n   * Significantly abnormal EKG\n   * Significant hypotonia\n\nB. Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:\n\n* Recurrent severe infection events\n* Recurrent or prolonged seizures\n* Unexplained cardiopulmonary resuscitation (CPR)\n* Suspect inborn error of metabolism\n\nExclusion Criteria:\n\n1. Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing\n2. Confirmed genetic diagnosis explains illness\n3. Lack of consent: Families who do not consent to genetic testing or data sharing.\n4. Infants without sufficient DNA sample quality\u002Fquantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.","18 Months",{"count":94,"type":21},70,"Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.",[27,97,98,99],"Genetic Disease","Critical Care, Intensive Care","Nanopore Sequencing","2025-02-18",{"date":102,"type":33},"2025-02-20",{"date":104,"type":21},"2025-02-17",{"date":106,"type":21},"2032-12-31",{"name":108,"class":40},"National Taiwan University Hospital"]