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