[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100618849":3},{"organization":4,"outcomesModule":7,"designInfo":26,"detailedDescription":29,"studyPopulation":30,"armGroups":31,"interventions":41,"overallOfficials":25,"centralContacts":46,"locations":25,"responsibleParty":52,"collaborators":25,"id":57,"slug":25,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":25,"eligibilityCriteria":62,"healthyVolunteers":58,"sex":63,"minAge":25,"maxAge":25,"enrollmentInfo":64,"targetDuration":25,"studyType":67,"phases":25,"briefSummary":68,"conditions":69,"keywords":72,"overallStatus":76,"whyStopped":25,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":25},{"fullName":5,"class":6},"Hôpital Necker-Enfants Malades","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":25},[9],{"measure":10,"description":11,"timeFrame":12},"Visual acuity at the last visit","Comparison of visual acuity at the last visual between the 2 groups","The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline",[14,18,22],{"measure":15,"description":16,"timeFrame":17},"Evolution of visual acuity","We only take in account the first visual assessments and the delay from the occurrence of the OA as well as the last visual assessment when possible and the delay between those two examinations.","Measurement at the occurence of the disease considered as baseline and at the last visit",{"measure":19,"description":20,"timeFrame":21},"Age","Age of the patient at the occurrence of the disease","At the occurence of the disease considered as baseline",{"measure":23,"description":24,"timeFrame":17},"Global RNFL thickness","Comparison of the global RNFL thickness according to the group and delay from occurence of the disease",null,{"allocation":25,"interventionModel":25,"interventionModelDescription":25,"primaryPurpose":25,"observationalModel":27,"timePerspective":28,"maskingInfo":25},"CASE_CONTROL","RETROSPECTIVE","Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.","patient from our rare disease reference center",[32,37],{"label":33,"type":25,"description":34,"interventionNames":35},"wolfram syndrome","Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines",[36],"Other: analyse study",{"label":38,"type":25,"description":39,"interventionNames":40},"recessive optic atrophy","patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.",[36],[42],{"type":6,"name":43,"description":44,"armGroupLabels":45,"otherNames":25},"analyse study","Retrospective analyse and study of recorded data of patients with wolfram syndrome or recessive optic atrophy due to WFS1 mutation",[38,33],[47],{"name":48,"role":49,"phone":50,"phoneExt":25,"email":51},"christophe orssaud, MD","CONTACT","33 1 56 09 34 66","christophe.orssaud@aphp.fr",{"type":53,"investigatorFullName":54,"investigatorTitle":55,"investigatorAffiliation":56,"oldNameTitle":25,"oldOrganization":25},"PRINCIPAL_INVESTIGATOR","Christophe Orssaud","MD, Responsible CRMR Ophtara HEGP","European Georges Pompidou Hospital","100618849",false,"NCT07336966","Does Recessive Optic Atrophy Due to WFS1 Exist?","Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?","Inclusion Criteria:\n\n* WFS1 mutation\n\nExclusion Criteria:\n\n* WFS2 mutation","ALL",{"count":65,"type":66},45,"ESTIMATED","OBSERVATIONAL","All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.",[70,71],"Wolfram Syndrome 1","Optic Atrophies, Hereditary",[73,74,75],"WFS1","Wolfram syndrome","hereditary optic neuropathy","NOT_YET_RECRUITING","2026-01-02",{"date":79,"type":80},"2026-01-13","ACTUAL",{"date":82,"type":66},"2026-02",{"date":84,"type":66},"2026-04",{"name":5,"class":6}]