[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100581068":3},{"organization":4,"armGroups":7,"interventions":13,"overallOfficials":20,"centralContacts":24,"locations":33,"responsibleParty":51,"collaborators":53,"id":56,"slug":57,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":62,"eligibilityCriteria":63,"healthyVolunteers":58,"sex":64,"minAge":65,"maxAge":19,"enrollmentInfo":66,"targetDuration":19,"studyType":69,"phases":70,"briefSummary":72,"conditions":73,"keywords":75,"overallStatus":36,"whyStopped":19,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},{"fullName":5,"class":6},"Centre Hospitalier Universitaire de Saint Etienne","OTHER",[8],{"label":9,"type":10,"description":9,"interventionNames":11},"Individual with AICA-ribosiduria due to ATIC deficiency","EXPERIMENTAL",[12],"Dietary Supplement: purine-rich diet",[14],{"type":15,"name":16,"description":17,"armGroupLabels":18,"otherNames":19},"DIETARY_SUPPLEMENT","purine-rich diet","diet to achieve a purine intake of 160mg\u002Fd",[9],null,[21],{"name":22,"affiliation":5,"role":23},"Francis RAMOND, doctor of medicine","PRINCIPAL_INVESTIGATOR",[25,30],{"name":22,"role":26,"phone":27,"phoneExt":28,"email":29},"CONTACT","0477828798","33","Francis.Ramond@chu-st-etienne.fr",{"name":31,"role":26,"phone":19,"phoneExt":19,"email":32},"Béatrice DEYGAS, Project manager","beatrice.deygas@chu-st-etienne.fr",[34],{"facility":35,"status":36,"city":37,"state":19,"zip":38,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"Chu Saint-Etienne","RECRUITING","Saint-Etienne","42055","France","FR",{"type":42,"coordinates":43},"Point",[44,45],4.39,45.43389,{"lat":45,"lon":44},[48],{"name":49,"role":26,"phone":27,"phoneExt":28,"email":50},"Francis RAMOND, Md","francis.ramond@chu-st-etienne.fr",{"type":52,"investigatorFullName":19,"investigatorTitle":19,"investigatorAffiliation":19,"oldNameTitle":19,"oldOrganization":19},"SPONSOR",[54],{"name":55,"class":6},"University Hospital of Saint-Etienne","100581068","purine-supplementation-in-patients-with-aica-ribosiduria-100581068",false,"NCT06845501","Purine Supplementation in Patients With AICA-Ribosiduria","PURICA : Purine Supplementation in Patients With AICA-Ribosiduria","PURICA","Inclusion Criteria:\n\n* Individual affected by AICA-ribosiduria due to ATIC deficiency\n\nExclusion Criteria:\n\n\\- Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet","ALL","3 Years",{"count":67,"type":68},10,"ESTIMATED","INTERVENTIONAL",[71],"NA","AICA-Ribosiduria due to ATIC deficiency is a rare genetic metabolic disease that affects less than 10 patients (PMID: 32557644). It results in severe polyhandicap linked to neurodevelopmental disorders, visual impairment, growth retardation, severe spinal deformities and scoliosis, and often early-onset epilepsy. The disease is caused by dysfunction of the ATIC enzyme, which is involved in de novo purine biosynthesis. A recent study (PMID: 38244287) reported a decrease in disease biomarkers in a single patient after 3 months on a purine-rich diet, which persisted for at least 1 year. The investigators propose to replicate this study on several patients to investigate the potential of this treatment for this severe orphan disease.",[74],"AICA-ribosiduria Due to ATIC Deficiency",[76,77,78],"AICA-Ribosiduria","ATIC","purine","2026-05-05",{"date":81,"type":82},"2026-05-08","ACTUAL",{"date":84,"type":82},"2025-04-24",{"date":86,"type":68},"2029-05",{"name":5,"class":6},1]