[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Hôpital Necker-Enfants Malades\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":137},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,41,62,96,118],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":25,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":4},"100618849","does-recessive-optic-atrophy-due-to-wfs1-exist-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":18,"type":19},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.",[23,24],"Wolfram Syndrome 1","Optic Atrophies, Hereditary",[26,27,28],"WFS1","Wolfram syndrome","hereditary optic neuropathy","NOT_YET_RECRUITING","2026-01-02",{"date":32,"type":33},"2026-01-13","ACTUAL",{"date":35,"type":19},"2026-02",{"date":37,"type":19},"2026-04",{"name":39,"class":40},"Hôpital Necker-Enfants Malades","OTHER",{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":48,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":50,"conditions":51,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":59,"leadSponsor":60,"locationsCount":61},"100617012","mechanisms-of-fecal-incontinence-in-wolfram-syndrome-100617012","NCT07313085","Mechanisms of Fecal Incontinence in Wolfram Syndrome","Physiopathogenic Mechanisms of Fecal Incontinence in Wolfram Syndrome","Inclusion Criteria:\n\n* Wolfram syndrome\n\nExclusion Criteria:\n\n* no information concerning fecal incontinence in data records",{"count":49,"type":19},20,"In order to clarify the mechanism of fecal incontinence in in Wolfram syndrome and to characterize its risk factors, the examiner will reviewed the files of patients followed in a Reference Center for Rare Diseases in Ophthalmology.",[52,53],"Wolfram Syndrome","Fecal Incontinence","2025-12-22",{"date":56,"type":33},"2025-12-31",{"date":58,"type":19},"2025-12-20",{"date":35,"type":19},{"name":39,"class":40},1,{"id":63,"slug":64,"hasResults":11,"nctId":65,"briefTitle":66,"officialTitle":67,"acronym":68,"eligibilityCriteria":69,"healthyVolunteers":70,"sex":16,"minAge":71,"maxAge":72,"enrollmentInfo":73,"targetDuration":4,"studyType":75,"phases":76,"briefSummary":78,"conditions":79,"keywords":82,"overallStatus":87,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":61},"100568560","metabolomics-analysis-according-to-the-retinal-nerve-fiber-layer-in-patients-with-nohl-mutations-mtaboct-100568560","NCT06682819","Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)","Metabolomics Analysis According to the Thickness of the Retinal Nerve Fiber Layer in Patients With NOHL Mutations","MétabOCT","Inclusion Criteria:\n\n* Patient carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy, or Patient not carrying an mtDNA mutation suggestive of NOHL (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy;\n* Patient agreeing to undergo an OCT;\n* Patient agreeing to sign the informed consent;\n* Patient affiliated to French social protection (Primary Health Insurance Fund, CMU, etc.) or European social protection.\n\nExclusion Criteria:\n\n* Patient with or having had optic neuropathy regardless of its etiology\n* Patient with glaucoma regardless of its etiology;\n* Patient not wanting to undergo OCT;\n* Patient not wanting to sign the informed consent;\n* Patient not affiliated with French social protection (Primary Health Insurance Fund, CMU, etc.) or European.\n* Patients less than 18 years old or over 60 years old\n* Pregnant patient",true,"18 Years","60 Years",{"count":74,"type":19},90,"INTERVENTIONAL",[77],"NA","Leber hereditary optic neuropathy (LHON), due to mitochondrial DNA (mtDNA) mutations, is responsible for profound visual impairment. However, there is evidence that optic nerve damage begins before vision declines. There is no biomarker to determine when optic nerve damage begins before visual acuity decline occurs.\n\nWe hope that the analysis of metabolomics will reveal specific metabolomic profiles and different vitamin B3 and B9 levels depending on whether there are OCT signs of optic nerve damage in healthy patients with mtDNA mutations suggestive of LHON (11778, 3460 or 14484). The existence of an increase in the thickness of the optic fiber layer, whose normal values are well established, constitutes such a sign in favor of optic nerve damage.",[80,81],"Healthy Subjects","Leber Hereditary Optic Neuropathy",[83,84,85,86],"Leber hereditary optic neuropathy","Metabolomics analysis","OCT","mtDNA mutation","RECRUITING","2025-11-15",{"date":90,"type":33},"2025-11-18",{"date":92,"type":33},"2023-03-10",{"date":94,"type":19},"2028-01",{"name":39,"class":40},{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":101,"acronym":102,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":104,"targetDuration":4,"studyType":75,"phases":106,"briefSummary":107,"conditions":108,"keywords":4,"overallStatus":87,"whyStopped":4,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":61},"100283112","surrogate-markers-of-response-to-new-therapies-in-cystic-fibrosis-patients-100283112","NCT02965326","Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients","Personalized Therapy of Cystic Fibrosis: Set-up of Response Markers","BIO-CFTR","Inclusion Criteria:\n\n* Cystic fibrosis patients treated by CFTR modulators (Ivacaftor or the association Ivacaftor-Lumacaftor)\n* Cystic fibrosis patients non treated by CFTR modulators\n* Patients in whom cystic fibrosis diagnosis has been suspected, but excluded by physiological and genetic investigations\n\nExclusion Criteria:\n\n* pregnant or lactating women\n* contraindication to nasal swab\n* contraindication to rectal biopsy",{"count":105,"type":19},75,[77],"The purpose of this study is to determine which biological marker, or association of biological markers, best predict clinical response of cystic fibrosis patients to CFTR modulators.",[109],"Cystic Fibrosis","2024-03-08",{"date":112,"type":33},"2024-03-12",{"date":114,"type":33},"2016-05",{"date":116,"type":19},"2026-10",{"name":39,"class":40},{"id":119,"slug":120,"hasResults":11,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":4,"eligibilityCriteria":124,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":125,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":127,"conditions":128,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":4},"100539186","assessment-of-patients-not-concluded-after-neonatal-screening-of-cystic-fibrosis-100539186","NCT06300567","Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis.","Assessment of Patients Not Concluded After Neonatal Screening of Cystic Fibrosis, CFTR-RD Misdiagnosis.","Inclusion Criteria:\n\npatients not concluded for the diagnosis of Cystic fibrosis either because of intermediate sweat test or because extensive genetic study has identified 2 vrainats at least 1 being not CF causing\n\n\\-\n\nExclusion Criteria:\n\n* patients carrying 2 CF causing variants of the CFTR gene\n* patients carrying only 1 or no variants of CFTR",{"count":126,"type":19},400,"Assessment of the outcome of patients not concluded fir cystic fibrosis, either symptomatic patients or asymptomatic children detected by newborn screening for cystic fibrosis. The aim is to identify patients potentially at risk of progressing to the clinical spectrum of cystic fibrosis",[129],"CFTR-RD","2024-03-07",{"date":112,"type":33},{"date":133,"type":19},"2024-05-01",{"date":135,"type":19},"2026-11-02",{"name":39,"class":40},""]