[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100598716":3},{"organization":4,"armGroups":7,"interventions":15,"overallOfficials":21,"centralContacts":26,"locations":32,"responsibleParty":51,"collaborators":21,"id":53,"slug":54,"hasResults":55,"nctId":56,"briefTitle":57,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":55,"sex":61,"minAge":62,"maxAge":63,"enrollmentInfo":64,"targetDuration":21,"studyType":67,"phases":68,"briefSummary":70,"conditions":71,"keywords":73,"overallStatus":35,"whyStopped":21,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},{"fullName":5,"class":6},"Assistance Publique Hopitaux De Marseille","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"ARNseq","EXPERIMENTAL","Patients enrolled in the experimental arm will be seen in consultation to sign the consent form and take samples at one of the participating investigational sites.\n\nOnly one visit is planned as part of the study. This is the inclusion visit, during which skin and blood samples are taken.\n\nIf a pathogenic variant explaining the phenotype is identified in a patient, the clinician following the patient will request confirmation of the variant by targeted analysis (Sanger sequencing) as part of the diagnosis. This result will be returned by the clinician who follows the patient as part of his or her usual care.",[13,14],"Procedure: Blood collection","Procedure: skin biopsy",[16,22],{"type":17,"name":18,"description":19,"armGroupLabels":20,"otherNames":21},"PROCEDURE","Blood collection","Blood is collected in order to perform transcriptomic sequencing from blood",[9],null,{"type":17,"name":23,"description":24,"armGroupLabels":25,"otherNames":21},"skin biopsy","A biopsy of skin is performed in order to perform transcriptomic sequencing on fibroblasts obtained from the biopsy",[9],[27],{"name":28,"role":29,"phone":30,"phoneExt":21,"email":31},"Svetlana GOROKHOVA, MD","CONTACT","33491388499","svetlana.gorokhova@ap-hm.fr",[33],{"facility":34,"status":35,"city":36,"state":37,"zip":38,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"Assistance publique - hôpitaux de Marseille","RECRUITING","Marseille","Provence-Alpes-Côt-d'Azue","13354","France","FR",{"type":42,"coordinates":43},"Point",[44,45],5.38107,43.29695,{"lat":45,"lon":44},[48,49],{"name":28,"role":29,"phone":30,"phoneExt":21,"email":31},{"name":28,"role":50,"phone":21,"phoneExt":21,"email":21},"PRINCIPAL_INVESTIGATOR",{"type":52,"investigatorFullName":21,"investigatorTitle":21,"investigatorAffiliation":21,"oldNameTitle":21,"oldOrganization":21},"SPONSOR","100598716","transcriptomic-analysis-of-fibroblasts-and-blood-in-patients-with-rare-diseases-100598716",false,"NCT07075107","Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases","Transcriptomic Analysis (RNAseq) of Blood and Fibroblasts to Establish a Diagnosis in Patients With Rare Diseases","ARNseqFibroSan","Inclusion Criteria:\n\n* Male or female, aged 0-99 years\n* Patient with neonatal intellectual disability and\u002For hypotonia followed at one of three inclusion centers\n* Patient or parent has been informed about the study and has signed an informed consent form\n* Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.\n* If the patient's phenotype is suggestive of Prader-Willi syndrome or Angelman syndrome: a methylation anomaly test on chromosome 15 was negative.\n* If the patient's phenotype is suggestive of fragile X syndrome: a repeat expansion analysis of the FMR1 gene was negative.\n* If the patient's phenotype is suggestive of myotonic dystrophy type I, DM1: a repeat expansion analysis of the DMPK gene was negative.\n* Patient entitled to or beneficiary of a social security scheme\n\nExclusion Criteria:\n\n* Patient deprived of liberty\n* Pregnant or breast-feeding woman,\n* The person required to sign the consent form does not understand French\n* Person under guardianship and\u002For curatorship","ALL","0 Years","99 Years",{"count":65,"type":66},62,"ESTIMATED","INTERVENTIONAL",[69],"NA","This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and\u002For neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients.\n\nFinally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.",[72],"Rare Genetic Disease",[74,9,75,76,77,78,79,80,81],"genetic analysis by high-throughput DNA sequencing","transcriptomic data","interpretation of sequence variants","Genomic Testing","RNA sequencing data","transcriptome analysis in rare disease","Rare diseases","Intellectual disability","2026-05-04",{"date":84,"type":85},"2026-05-08","ACTUAL",{"date":87,"type":85},"2026-03-09",{"date":89,"type":66},"2029-04-30",{"name":5,"class":6},1]