[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100593605":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":11,"centralContacts":30,"locations":40,"responsibleParty":59,"collaborators":11,"id":61,"slug":62,"hasResults":63,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":67,"eligibilityCriteria":68,"healthyVolunteers":63,"sex":69,"minAge":70,"maxAge":11,"enrollmentInfo":71,"targetDuration":11,"studyType":74,"phases":75,"briefSummary":77,"conditions":78,"keywords":80,"overallStatus":43,"whyStopped":11,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},{"fullName":5,"class":6},"University Hospital, Rouen","OTHER",[8,14],{"label":9,"type":10,"description":11,"interventionNames":12},"MYT1L Arm","EXPERIMENTAL",null,[13],"Diagnostic Test: Patients with a genetic syndrome linked to the MYT1L gene",{"label":15,"type":16,"description":17,"interventionNames":18},"Control Arm","ACTIVE_COMPARATOR","Consisting of verbally communicative patients with another genetically determinded neurodevelopmental disorder that has been confirmed at the molecular level.",[19],"Diagnostic Test: Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L",[21,26],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":11},"DIAGNOSTIC_TEST","Patients with a genetic syndrome linked to the MYT1L gene","* Neuropsychological assessment by the neuropsychologist (lasting 1h30)\n* Speech and language assessment (including language and prosody) by the speech therapist, lasting 1h30",[9],{"type":22,"name":27,"description":28,"armGroupLabels":29,"otherNames":11},"Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L","Evaluation de la prosodie par l'orthophoniste (45 minutes)",[15],[31,37],{"name":32,"role":33,"phone":34,"phoneExt":35,"email":36},"David DM MALLET, Director","CONTACT","02 32 88 82 65","+33","David.Mallet@chu-rouen.fr",{"name":38,"role":33,"phone":34,"phoneExt":35,"email":39},"Vincent VF FERRANTI, ARC","Vincent.Ferranti@chu-rouen.fr",[41],{"facility":42,"status":43,"city":44,"state":11,"zip":45,"country":46,"countryCode":47,"cosmosGeoPoint":48,"geoPoint":53,"contacts":54},"University Hospital of Rouen","RECRUITING","Rouen","76031","France","FR",{"type":49,"coordinates":50},"Point",[51,52],1.09932,49.44313,{"lat":52,"lon":51},[55],{"name":56,"role":33,"phone":57,"phoneExt":35,"email":58},"Juliette JC COURSIMAULT, Doctor","02 32 88 87 47","J.Coursimault@chu-rouen.fr",{"type":60,"investigatorFullName":11,"investigatorTitle":11,"investigatorAffiliation":11,"oldNameTitle":11,"oldOrganization":11},"SPONSOR","100593605","myt1l-syndrome-a-rare-paediatric-genetic-syndrome-responsible-for-a-neurodevelopmental-disorder-100593605",false,"NCT07008612","MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder","Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome","MYT1L","Inclusion Criteria:\n\nMYT1L Group Patients\n\n* Minimum age for inclusion: 6 years\n* Maximum age for inclusion: no upper age limit\n* Language: French\n* Consent of parents or legal guardian\n* Social security coverage required\n\nProsody Group Patients\n\n* Unaided visual or hearing impairment making assessments impossible\n* Non-French speaking patients\n* Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder\n* Acquired neurological disorder\n\nExclusion Criteria:\n\nMYT1L Group patients\n\n* Unaided visual or hearing impairment making assessments impossible\n* Non-French speaking patients\n* Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder\n* Acquired neurological disorder\n\nProsody Group Patients\n\n* Patients with molecularly confirmed MYT1L syndrome.\n* Nonverbal patients","ALL","6 Years",{"count":72,"type":73},50,"ESTIMATED","INTERVENTIONAL",[76],"NA","MYT1L syndrome is a rare genetic syndrome, recently described in 2011, with paediatric onset, responsible for a neurodevelopmental disorder combining psychomotor retardation, learning difficulties and\u002For intellectual development disorders, epilepsy, overweight and eating disorders. The Rouen genetics department is currently positioned as a clinical expert in this disease.\n\nThe study published in 2020 by our team (Coursimault J et al., Hum Genet. 2022, PMID: 34748075) has enabled us to describe 40 new individuals worldwide, to gain a better understanding of this disease, to specify the genotype-phenotype relationships and to describe new clinical signs. We were able to confirm the presence of a neurodevelopmental disorder in 100% of patients, which includes: language delay, impaired orality, global and facial hypotonia, prosodic features and behavioural problems. This will be the first study in the world to characterise the neuropsychological, language and prosodic profiles of MYT1L patients.",[79],"MYT1L Syndrome",[81],"combination of symptoms and physical features which are found together in a person and are all due to the same underlying cause","2026-06-04",{"date":84,"type":85},"2026-06-08","ACTUAL",{"date":87,"type":85},"2025-02-04",{"date":89,"type":73},"2027-11-01",{"name":5,"class":6},1]