[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100618521":3},{"organization":4,"armGroups":7,"interventions":18,"overallOfficials":24,"centralContacts":25,"locations":31,"responsibleParty":47,"collaborators":49,"id":53,"slug":54,"hasResults":55,"nctId":56,"briefTitle":57,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":55,"sex":61,"minAge":62,"maxAge":24,"enrollmentInfo":63,"targetDuration":24,"studyType":66,"phases":67,"briefSummary":69,"conditions":70,"keywords":72,"overallStatus":34,"whyStopped":24,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":83},{"fullName":5,"class":6},"University Hospital, Rouen","OTHER",[8,14],{"label":9,"type":10,"description":11,"interventionNames":12},"Control group","EXPERIMENTAL","subjects carrying 1 or 3 copies of the SMN1 gene and a variable number of copies of the SMN2 gene",[13],"Genetic: blood sample",{"label":15,"type":10,"description":16,"interventionNames":17},"Test group","subjects carrying a 2+0 genotype (two copies of the SMN1 gene in cis on one allele and a deletion on the other allele)",[13],[19],{"type":20,"name":21,"description":22,"armGroupLabels":23,"otherNames":24},"GENETIC","blood sample","For subjects who agree to participate in the study, a blood sample will be taken (2x5 mL on EDTA) and sent the same day at 4°C to the genetics laboratory at Rouen University Hospital using a carrier that guarantees delivery on D+1",[9,15],null,[26],{"name":27,"role":28,"phone":29,"phoneExt":24,"email":30},"Pascale Saugier-Veber, PharmD PhD","CONTACT","(+33) 2 32 88 64 51","Pascale.Saugier-Veber@chu-rouen.fr",[32],{"facility":33,"status":34,"city":35,"state":24,"zip":24,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"CHU Rouen","RECRUITING","Rouen","France","FR",{"type":39,"coordinates":40},"Point",[41,42],1.09932,49.44313,{"lat":42,"lon":41},[45],{"name":46,"role":28,"phone":29,"phoneExt":24,"email":30},"Pascale Saugier-Veber",{"type":48,"investigatorFullName":24,"investigatorTitle":24,"investigatorAffiliation":24,"oldNameTitle":24,"oldOrganization":24},"SPONSOR",[50],{"name":51,"class":52},"Agence de La Biomédecine","OTHER_GOV","100618521","long-read-analysis-in-spinal-muscular-atrophy---loreasi-100618521",false,"NCT07332702","Long Read Analysis in Spinal Muscular Atrophy - LOREASI","Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy","LOREASI","Inclusion Criteria\n\n• Adult Subject:\n\n* Subject with either:\n\n  * 1 or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene\n  * 2 copies of the SMN1 gene in cis (2+0 genotype) (test group)\n* Affiliation to French health insurance\n* Signed consent form\n\nExclusion Criteria\n\n* Pregnant or breastfeeding women\n* Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship","ALL","18 Years",{"count":64,"type":65},27,"ESTIMATED","INTERVENTIONAL",[68],"NA","Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling.\n\nThis study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.",[71],"Spinal Muscular Atrophy (SMA)",[73],"SMA, SMN1, long read, cis duplication, genetic counselling","2025-12-29",{"date":76,"type":77},"2026-01-12","ACTUAL",{"date":79,"type":77},"2025-05-15",{"date":81,"type":65},"2027-01-15",{"name":5,"class":6},1]