[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100477601":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":21,"centralContacts":26,"locations":33,"responsibleParty":47,"collaborators":20,"id":49,"slug":50,"hasResults":51,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":54,"eligibilityCriteria":55,"healthyVolunteers":51,"sex":56,"minAge":20,"maxAge":20,"enrollmentInfo":57,"targetDuration":20,"studyType":60,"phases":61,"briefSummary":63,"conditions":64,"keywords":20,"overallStatus":36,"whyStopped":20,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":76},{"fullName":5,"class":6},"University Hospital, Angers","OTHER_GOV",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Study Arm","EXPERIMENTAL","Specific interventions:\n\nBlood samples, skin biopsy, urine collection or operational waste qualified as research sample.",[13],"Procedure: Skin biopsy, blood sample, urine sample",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"PROCEDURE","Skin biopsy, blood sample, urine sample","blood samples, urine samples, skin samples.",[9],null,[22],{"name":23,"affiliation":24,"role":25},"Estelle COLIN, MD-PhD","escolin@chu-angers.fr","PRINCIPAL_INVESTIGATOR",[27,30],{"name":23,"role":28,"phone":29,"phoneExt":20,"email":24},"CONTACT","02.41.35.34.70",{"name":31,"role":28,"phone":20,"phoneExt":20,"email":32},"Clément PROUTEAU, MSc","clement.prouteau@chu-angers.fr",[34],{"facility":35,"status":36,"city":37,"state":20,"zip":38,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":20},"Centre Hospitalo-Universitaire d'Angers","RECRUITING","Angers","49933","France","FR",{"type":42,"coordinates":43},"Point",[44,45],-0.55202,47.47156,{"lat":45,"lon":44},{"type":48,"investigatorFullName":20,"investigatorTitle":20,"investigatorAffiliation":20,"oldNameTitle":20,"oldOrganization":20},"SPONSOR","100477601","functional-study-to-indentify-genetic-etiology-of-rare-diseases---origin-100477601",false,"NCT05499091","Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN","ORIGIN","Inclusion Criteria:\n\nPatient :\n\n* Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.\n* Patient Affiliated to the French social security system.\n* Patient consent form or legal representative consent form obtained.\n\nPatient's parent :\n\n* Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Parent included in the BaMaRa database.\n* Parent affiliated to the French social security system.\n* Parent consent form obtained for himself\u002Fherself.\n\nPatient's brother or sister :\n\n* Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Brother or sister included in the BaMaRa database.\n* Brother or sister affiliated to the French social security system.\n* Brother or sister consent form obtained for themselves or from their legal representative.\n\nExclusion Criteria:\n\n* Poor understanding of the French language\n* Legal of administrative liberty deprivation\n* Psychiatric force care","ALL",{"count":58,"type":59},1200,"ESTIMATED","INTERVENTIONAL",[62],"NA","Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.",[65,66],"Rare Diseases","Genetic Disease","2026-06-25",{"date":69,"type":70},"2026-06-29","ACTUAL",{"date":72,"type":70},"2022-10-10",{"date":74,"type":59},"2045-10-10",{"name":5,"class":6},1]