[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"optical-genome-mapping\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:optical-genome-mapping":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":31,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100494162","evaluation-of-optical-genome-mapping-in-phi-negative-myeloproliferative-neoplasia-in-the-detection-of-acquired-cytogenetic-abnormalities-100494162",false,"NCT05714592","Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities","MYELOCARTOCH","Inclusion Criteria:\n\n* Patient 18 years of age or older\n* Diagnosis or follow-up of polycythemia vera, essential thrombocythemia or primary or secondary myelofibrosis\n* Requires bone marrow cytogenetics at diagnosis or follow-up\n* Understanding of the French language\n* Information of the patient and collection of no objection\n* Person affiliated to a social security regime\n\nExclusion Criteria:\n\n* Patient with BCR::ABL positive myeloproliferative neoplasia.\n* Person with a medical history that may impair the ability to understand the information notice","ALL","18 Years",{"count":19,"type":20},300,"ESTIMATED","INTERVENTIONAL",[23],"NA","Standard cytogenetics (CBA +\u002F- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities. The development of tools to increase the sensitivity of detection of chromosomal alterations is therefore particularly adapted to these pathologies. Optical genome mapping (OGM) is a high resolution \"long read\" technique that allows the identification of structural and copy number variations at the whole genome level. Several recent studies suggest that OGM is a future tool for cytogenetic characterization of haematological disorders. Its ability to describe structural abnormalities, including balanced ones, represents a major advantage over currently used technologies. Thus, OGM seems to be the key tool for cytogenetics of haematological malignancies in the coming years, making it possible to replace, under certain conditions, not only karyotype and FISH, but CMA and even RT-MLPA for the search for fusion transcripts, thus filling in the gaps in these techniques while maintaining their advantages.\n\nTo define the place of this technology in Ph- MPN, the investigators will perform a OGM analysis on patients with Ph-MPN for whom bone marrow exploration is scheduled. These results will be compared with those of standard cytogenetics (CBA +\u002F- FISH).",[26,27,28,29,30],"Myeloproliferative Neoplasm","Optical Genome Mapping","Cytogenetics","Clonality","Prognostic Stratification",[26,32,28,29,33],"Optical genome mapping","Prognostic stratification","RECRUITING","2026-05-27",{"date":37,"type":38},"2026-05-28","ACTUAL",{"date":40,"type":38},"2023-05-17",{"date":42,"type":20},"2027-05-18",{"name":44,"class":45},"Centre Hospitalier Universitaire, Amiens","OTHER",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":54,"targetDuration":4,"studyType":21,"phases":56,"briefSummary":57,"conditions":58,"keywords":61,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":46},"100583728","study-of-congenital-orofacial-clefts-by-implementing-optical-genome-mapping-100583728","NCT06880094","Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping","CARTOFENTE","Inclusion Criteria:\n\n* Individuals with syndromic, complex or familial oral-facial clefts\n* With no established genetic diagnosis\n* Followed up at the Amiens-Picardie University Hospital\n\nExclusion Criteria:\n\n* genetic diagnosis of oral-facial cleft\n* No health insurance affiliation\n* Patient under guardianship or curatorship, under safeguard of justice or deprived under public law\n* Pregnant, parturient or breast-feeding woman",{"count":55,"type":20},26,[23],"Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.\n\nChromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics.\n\nOptical genome mapping (OGM) is an innovative, high-resolution \"long read\" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by \"short read\" NGS \"short read, in individuals with oral-facial clefts with no genetic diagnosis.",[59,60,27],"Orofacial Clefts","Next Generation Sequencing (NGS)",[62,63,27],"orofacial clefts","Next Generation Sequencing","2026-01-15",{"date":66,"type":38},"2026-01-16",{"date":68,"type":38},"2025-02-18",{"date":70,"type":20},"2027-04",{"name":44,"class":45}]