[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-malformation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-malformation":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,52],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":28,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":51},"100552635","characterization-and-contribution-of-genome-wide-dna-methylation-dna-methylation-episignatures-in-rare-diseases-with-prenatal-onset-100552635",false,"NCT06475651","Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset","FOETEPISIGN","Inclusion Criteria:\n\n* Patient Inclusion Criteria:\n\n  * Fetuses with a postmortem examination as part of the etiological diagnosis of developmental abnormality within the Genomic Medicine of Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from lung and amniotic fluid is available\n  * OR a child cared for in the Genomic Medicine for Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from whole blood is available\n  * with pathogenic or probably pathogenic variation in a gene following CHD7, KMT2D, HYLS1, TCTN3 or FLVCR2\n  * whose parents have consented to molecular genetic testing as part of diagnosis and research\n* Negative Controls :\n\n  * Fetuses with a postmortem examination as part of the etiological diagnosis of developmental abnormality within the Genomic Medicine of Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from lung and amniotic fluid are available\n  * OR a child cared for in the Genomic Medicine for Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from whole blood is available\n  * does not have pathogenic or probably pathogenic variation in a gene following CHD7, KMT2D, HYLS1, TCTN3 or FLVCR2\n  * whose parents have consented to molecular genetic testing as part of diagnosis and research\n* For everyone:\n\n  • For living participants: Non-objection by holders of parental authority to the reuse of clinical data and biological samples collected and stored in the context of care (consent of care).\n\n  • For deceased participants:\n* Consent of the holders of parental authority to the use of the samples kept for research purposes, signed as part of the treatment\n* No mention of opposition to the reuse of clinical data from the treatment in the patient's medical record\n\nExclusion Criteria:\n\n* Refusal of postmortem examination in case of fetal loss\n* Parents' refusal of molecular investigations",true,"ALL","0 Years","18 Years",{"count":21,"type":22},63,"ESTIMATED","OBSERVATIONAL","It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are:\n\n* It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues collected during the postmortem examination\n* Fetal DNA Methylation Episignatures may be different to postanal DNA Methylation Episignatures defined on DNA extracted from blood",[26,27],"Rare Fetal Genetic Diseases","Congenital Malformation",[29,30,31,32,33,34,35,36,37,38],"Congenital malformation","DNA methylation abnormalities","Episignature","CHD7 gene","KMT2D gene","HYLS1 gene","TCTN3 gene","FLVCR2 gene","CHARGE syndrome","KABUKI syndrome","RECRUITING","2026-03-24",{"date":42,"type":43},"2026-03-27","ACTUAL",{"date":45,"type":43},"2026-02-26",{"date":47,"type":22},"2026-08-26",{"name":49,"class":50},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":53,"slug":54,"hasResults":11,"nctId":55,"briefTitle":56,"officialTitle":56,"acronym":4,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":58,"enrollmentInfo":59,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":61,"conditions":62,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":51},"100251381","genomic-sequencing-and-personalized-treatment-for-birth-defects-in-neonatal-intensive-care-units-100251381","NCT02551081","Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units","Inclusion Criteria:\n\nOne of the following criteria required.\n\n1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals\n2. Clinical genetic testing or a genetic consult is ordered\n3. Subject has one major structural anomaly or three or more minor anomalies\n4. Abnormal laboratory testing suggestive of a genetic disease\n5. Abnormal response to standard therapy for a major underlying condition\n\nExclusion Criteria:\n\n1. Previously performed exome\u002Fgenome sequencing on patient\n2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood\n3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)\n4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician\n5. Parents refuse consent","28 Days",{"count":60,"type":22},2000,"The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.",[63,64,27],"Genetic Disease","Multiple Malformation","2025-09-03",{"date":67,"type":43},"2025-09-05",{"date":69,"type":43},"2015-10-01",{"date":71,"type":22},"2025-12-30",{"name":73,"class":50},"Children's Hospital of Fudan University"]