[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"aica-ribosiduria-due-to-atic-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:aica-ribosiduria-due-to-atic-deficiency":43},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":10,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":5},"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":19,"type":20},10,"ESTIMATED","INTERVENTIONAL",[23],"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.",[26],"AICA-ribosiduria Due to ATIC Deficiency",[28,29,30],"AICA-Ribosiduria","ATIC","purine","RECRUITING","2026-05-05",{"date":34,"type":35},"2026-05-08","ACTUAL",{"date":37,"type":35},"2025-04-24",{"date":39,"type":20},"2029-05",{"name":41,"class":42},"Centre Hospitalier Universitaire de Saint Etienne","OTHER",""]