[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100581068":3},{"organization":4,"outcomesModule":7,"designInfo":22,"detailedDescription":21,"studyPopulation":21,"armGroups":29,"interventions":35,"overallOfficials":41,"centralContacts":45,"locations":54,"responsibleParty":72,"collaborators":74,"id":77,"slug":21,"hasResults":78,"nctId":79,"briefTitle":80,"officialTitle":81,"acronym":82,"eligibilityCriteria":83,"healthyVolunteers":78,"sex":84,"minAge":85,"maxAge":21,"enrollmentInfo":86,"targetDuration":21,"studyType":89,"phases":90,"briefSummary":91,"conditions":92,"keywords":94,"overallStatus":57,"whyStopped":21,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":107},{"fullName":5,"class":6},"Centre Hospitalier Universitaire de Saint Etienne","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":21},[9],{"measure":10,"description":11,"timeFrame":12},"Urinary concentration","Urinary concentration of AICA-Riboside and Succinyladenoside in mmol\u002Fmol (same unit for both).","6 months",[14,18],{"measure":15,"description":16,"timeFrame":17},"Number of hospitalizations","Comparison of the number of hospitalizations per time unit during the 12 months preceding the introduction of treatment, and during periods when at least one of the biomarkers has a value below 50% of the baseline (considering that these periods correspond to treatment at an effective dose and duration).","12 months",{"measure":19,"description":20,"timeFrame":12},"Quality of life score","Measurement of quality of life scores before treatment, at the end of the first phase of treatment before elimination, and at the end of the study. Tool: standardised paediatric PedsQL parent-proxy scale (a scale designed to assess the overall impact on quality of life of a paediatric patient's health status, as reported by their parents, consisting of 23 questions rated from 0 to 5 and where higher scores indicate better quality of life). In the case of adult patients, the Short Form-36 scale is used, consisting of 36 questions divided into 8 dimensions (and with a score ranging from 0 to 100). Each question is evaluated on a Likert scale, with 3, 5 or 6 possible levels of response. The 8 dimensions are also used to calculate two individual quality of life scores: the Physical Composite Score (PCS) and the Mental Composite Score (MCS). The higher the score, the greater the ability.",null,{"allocation":23,"interventionModel":24,"interventionModelDescription":25,"primaryPurpose":26,"observationalModel":21,"timePerspective":21,"maskingInfo":27},"NA","SEQUENTIAL","prospective, N-of-1 trial, comparative before\u002Fafter study","TREATMENT",{"masking":28,"maskingDescription":21,"whoMasked":21},"NONE",[30],{"label":31,"type":32,"description":31,"interventionNames":33},"Individual with AICA-ribosiduria due to ATIC deficiency","EXPERIMENTAL",[34],"Dietary Supplement: purine-rich diet",[36],{"type":37,"name":38,"description":39,"armGroupLabels":40,"otherNames":21},"DIETARY_SUPPLEMENT","purine-rich diet","diet to achieve a purine intake of 160mg\u002Fd",[31],[42],{"name":43,"affiliation":5,"role":44},"Francis RAMOND, doctor of medicine","PRINCIPAL_INVESTIGATOR",[46,51],{"name":43,"role":47,"phone":48,"phoneExt":49,"email":50},"CONTACT","0477828798","33","Francis.Ramond@chu-st-etienne.fr",{"name":52,"role":47,"phone":21,"phoneExt":21,"email":53},"Béatrice DEYGAS, Project manager","beatrice.deygas@chu-st-etienne.fr",[55],{"facility":56,"status":57,"city":58,"state":21,"zip":59,"country":60,"countryCode":61,"cosmosGeoPoint":62,"geoPoint":67,"contacts":68},"Chu Saint-Etienne","RECRUITING","Saint-Etienne","42055","France","FR",{"type":63,"coordinates":64},"Point",[65,66],4.39,45.43389,{"lat":66,"lon":65},[69],{"name":70,"role":47,"phone":48,"phoneExt":49,"email":71},"Francis RAMOND, Md","francis.ramond@chu-st-etienne.fr",{"type":73,"investigatorFullName":21,"investigatorTitle":21,"investigatorAffiliation":21,"oldNameTitle":21,"oldOrganization":21},"SPONSOR",[75],{"name":76,"class":6},"University Hospital of Saint-Etienne","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":87,"type":88},10,"ESTIMATED","INTERVENTIONAL",[23],"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.",[93],"AICA-ribosiduria Due to ATIC Deficiency",[95,96,97],"AICA-Ribosiduria","ATIC","purine","2026-05-05",{"date":100,"type":101},"2026-05-08","ACTUAL",{"date":103,"type":101},"2025-04-24",{"date":105,"type":88},"2029-05",{"name":5,"class":6},1]