[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100595883":3},{"organization":4,"armGroups":7,"interventions":22,"overallOfficials":10,"centralContacts":32,"locations":38,"responsibleParty":193,"collaborators":10,"id":195,"slug":10,"hasResults":196,"nctId":197,"briefTitle":198,"officialTitle":199,"acronym":200,"eligibilityCriteria":201,"healthyVolunteers":196,"sex":202,"minAge":203,"maxAge":10,"enrollmentInfo":204,"targetDuration":10,"studyType":207,"phases":10,"briefSummary":208,"conditions":209,"keywords":215,"overallStatus":41,"whyStopped":10,"lastUpdateSubmitDate":223,"lastUpdatePostDateStruct":224,"startDateStruct":227,"completionDateStruct":229,"leadSponsor":231,"locationsCount":232},{"fullName":5,"class":6},"Hospices Civils de Lyon","OTHER",[8,15,19],{"label":9,"type":10,"description":11,"interventionNames":12},"Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur",null,"Patients presenting with length-dependent sensitive-motor axonal neuropathy",[13,14],"Diagnostic Test: Skin biopsy","Diagnostic Test: Blood sample",{"label":16,"type":10,"description":17,"interventionNames":18},"DIFGAN patients","Patients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy",[13,14],{"label":20,"type":10,"description":21,"interventionNames":10},"Control","Control group without any neurological disorder",[23,28],{"type":24,"name":25,"description":26,"armGroupLabels":27,"otherNames":10},"DIAGNOSTIC_TEST","Skin biopsy","under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.",[9,16],{"type":24,"name":29,"description":30,"armGroupLabels":31,"otherNames":10},"Blood sample","3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres.\n\nFor children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.",[9,16],[33],{"name":34,"role":35,"phone":36,"phoneExt":10,"email":37},"Shams RIBAULT, MD","CONTACT","00334 72 07 25 73","shams.ribault@chu-lyon.fr",[39,56,68,81,94,107,117,129,143,156,167,181],{"facility":40,"status":41,"city":42,"state":10,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":52},"CHU de Besançon","RECRUITING","Besançon","25030","France","FR",{"type":47,"coordinates":48},"Point",[49,50],6.01815,47.24878,{"lat":50,"lon":49},[53],{"name":54,"role":35,"phone":10,"phoneExt":10,"email":55},"Elise Boucher Brischoux, MD","ebrischouxboucher@chu-besancon.fr",{"facility":57,"status":41,"city":58,"state":10,"zip":59,"country":44,"countryCode":45,"cosmosGeoPoint":60,"geoPoint":64,"contacts":65},"CHRU Brest","Brest","29200",{"type":47,"coordinates":61},[62,63],-4.48628,48.39029,{"lat":63,"lon":62},[66],{"name":67,"role":35,"phone":10,"phoneExt":10,"email":10},"Audebert Bellanger, MD",{"facility":69,"status":41,"city":70,"state":10,"zip":71,"country":44,"countryCode":45,"cosmosGeoPoint":72,"geoPoint":76,"contacts":77},"CHU Grenoble","Grenoble","38700",{"type":47,"coordinates":73},[74,75],5.71479,45.17869,{"lat":75,"lon":74},[78],{"name":79,"role":35,"phone":10,"phoneExt":10,"email":80},"Martial Mallaret, MD","MMallaret1@chu-grenoble.fr",{"facility":82,"status":41,"city":83,"state":10,"zip":84,"country":44,"countryCode":45,"cosmosGeoPoint":85,"geoPoint":89,"contacts":90},"CH de Versailles","Le Chesnay","78150",{"type":47,"coordinates":86},[87,88],2.12213,48.8222,{"lat":88,"lon":87},[91],{"name":92,"role":35,"phone":10,"phoneExt":10,"email":93},"Geoffroy Delplancq, MD","gdelplancq@ch-versailles.fr",{"facility":95,"status":41,"city":96,"state":10,"zip":97,"country":44,"countryCode":45,"cosmosGeoPoint":98,"geoPoint":102,"contacts":103},"Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre","Le Kremlin-Bicêtre","94270",{"type":47,"coordinates":99},[100,101],2.36073,48.81471,{"lat":101,"lon":100},[104],{"name":105,"role":35,"phone":106,"phoneExt":10,"email":10},"Andoni ECHANIZ-LAGUNA, MD","0033145212121",{"facility":5,"status":41,"city":108,"state":10,"zip":109,"country":44,"countryCode":45,"cosmosGeoPoint":110,"geoPoint":114,"contacts":115},"Lyon","69317",{"type":47,"coordinates":111},[112,113],4.84789,45.74906,{"lat":113,"lon":112},[116],{"name":34,"role":35,"phone":36,"phoneExt":10,"email":37},{"facility":118,"status":41,"city":119,"state":10,"zip":120,"country":44,"countryCode":45,"cosmosGeoPoint":121,"geoPoint":125,"contacts":126},"CHU Marseille","Marseille","13005",{"type":47,"coordinates":122},[123,124],5.38107,43.29695,{"lat":124,"lon":123},[127],{"name":128,"role":35,"phone":10,"phoneExt":10,"email":10},"Nathalie BONELLO, MD",{"facility":130,"status":41,"city":131,"state":10,"zip":132,"country":44,"countryCode":45,"cosmosGeoPoint":133,"geoPoint":137,"contacts":138},"CHU de Nantes","Nantes","44000",{"type":47,"coordinates":134},[135,136],-1.55336,47.21725,{"lat":136,"lon":135},[139],{"name":140,"role":35,"phone":141,"phoneExt":10,"email":142},"Marie Vincent, MD","00332 40 08 32 45","marie.vincent@chu-nantes.fr",{"facility":144,"status":41,"city":145,"state":10,"zip":146,"country":44,"countryCode":45,"cosmosGeoPoint":147,"geoPoint":151,"contacts":152},"CH Pitié Salpêtrière","Paris","75013",{"type":47,"coordinates":148},[149,150],2.3488,48.85341,{"lat":150,"lon":149},[153],{"name":154,"role":35,"phone":10,"phoneExt":10,"email":155},"Tanya Stojkovic, MD","tanya.stojkovic@aphp.fr",{"facility":157,"status":41,"city":145,"state":10,"zip":158,"country":44,"countryCode":45,"cosmosGeoPoint":159,"geoPoint":161,"contacts":162},"Hôpital Necker","75015",{"type":47,"coordinates":160},[149,150],{"lat":150,"lon":149},[163],{"name":164,"role":35,"phone":165,"phoneExt":10,"email":166},"Cyril Gitiaux, MD","00331 49 57 43 44","cyril.gitiaux@aphp.fr",{"facility":168,"status":41,"city":169,"state":10,"zip":170,"country":44,"countryCode":45,"cosmosGeoPoint":171,"geoPoint":175,"contacts":176},"CHU de Saint-Etienne","Saint-Etienne","42270",{"type":47,"coordinates":172},[173,174],4.39,45.43389,{"lat":174,"lon":173},[177],{"name":178,"role":35,"phone":179,"phoneExt":10,"email":180},"Jean-Philippe Camdessanche, MD","0033477127805","j.philippe.camdessanche@chu-st-etienne.fr",{"facility":182,"status":41,"city":183,"state":10,"zip":184,"country":44,"countryCode":45,"cosmosGeoPoint":185,"geoPoint":189,"contacts":190},"CHU Strasbourg","Strasbourg","67000",{"type":47,"coordinates":186},[187,188],7.74553,48.58392,{"lat":188,"lon":187},[191],{"name":192,"role":35,"phone":10,"phoneExt":10,"email":10},"Aleksandra NADAJ PAKLEZA",{"type":194,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100595883",false,"NCT07038239","Genotype\u002FPhenotype Correlation of MORC2 Mutations","Deciphering MORC2 Genotype\u002FPhenotype Correlation to Improve Patient Diagnostic","PhenoMORC2","Inclusion Criteria:\n\n* Presence of a mutation in the MORC2 gene, identified during an evaluation for peripheral neuropathy or intellectual disability\n* Patient has undergone electromyography (EMG) or is able to undergo EMG during the inclusion visit\n* Affiliation with the national health insurance system\n* Informed consent from the patient if an adult, or from parents\u002Flegal guardians if the patient is a minor\n\nExclusion Criteria:\n\n* Presence of another mutation responsible for peripheral neuropathy or intellectual disability\n* Refusal to undergo biological sample collection\n* Regulatory exclusion criteria:\n* Pregnant, postpartum, or breastfeeding women\n* Individuals deprived of liberty by judicial or administrative decision\n* Individuals not affiliated with a social security system or not benefiting from an equivalent health coverage scheme","ALL","4 Years",{"count":205,"type":206},45,"ESTIMATED","OBSERVATIONAL","The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy.\n\nDifferent mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN.\n\nMORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.",[210,211,212,213,214],"Charcot Marie Tooth Disease","DIFGAN","Developmental Delay (Disorder)","Impaired Growth","Dysmorphic Facies and Axonal Neuropathy",[216,211,217,218,219,220,221,222],"Charcot-Marie-Tooth","Human silencing hub complex","genotype-phenotype correlation","MORC2","DNA dalage repair","transcriptional modulation","EPIGENETIC","2026-06-17",{"date":225,"type":226},"2026-06-18","ACTUAL",{"date":228,"type":226},"2026-06-16",{"date":230,"type":206},"2027-06",{"name":5,"class":6},12]