[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100645346":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":12,"centralContacts":17,"locations":25,"responsibleParty":44,"collaborators":10,"id":46,"slug":47,"hasResults":48,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":48,"sex":53,"minAge":10,"maxAge":10,"enrollmentInfo":54,"targetDuration":10,"studyType":57,"phases":10,"briefSummary":58,"conditions":59,"keywords":61,"overallStatus":66,"whyStopped":10,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":76},{"fullName":5,"class":6},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",[8],{"label":9,"type":10,"description":11,"interventionNames":10},"European cystinosis observational cohort",null,"Patients included in this cohort have a confirmed diagnosis of cystinosis (CTNS-related lysosomal storage disease) and are followed in European expert reference centers. This is a non-interventional observational cohort study conducted under routine clinical care conditions. No study-specific treatment or intervention is assigned; patients receive standard of care as determined by their treating physicians. Longitudinal data are collected prospectively and retrospectively through standardized electronic case report forms (eCRFs), including clinical, biological, genetic, treatment, and patient-reported outcomes. Data collection covers renal, ocular, endocrine, neurological, muscular, gastrointestinal manifestations, as well as quality of life and biomarker assessments. Patients are followed over time according to routine clinical practice.",[13],{"name":14,"affiliation":15,"role":16},"Aude Servais","AP-HP_Hôpital Necker_Paris","PRINCIPAL_INVESTIGATOR",[18,22],{"name":14,"role":19,"phone":20,"phoneExt":10,"email":21},"CONTACT","0033 1 44 38 15 15","aude.servais@aphp.fr",{"name":23,"role":19,"phone":10,"phoneExt":10,"email":24},"Patrick Niaudet","pniaudet@gmail.com",[26],{"facility":27,"status":10,"city":28,"state":29,"zip":30,"country":31,"countryCode":32,"cosmosGeoPoint":33,"geoPoint":38,"contacts":39},"AP-HP_ Hôpital Charles Foix","Ivry-sur-Seine","Île-de-France Region","94200","France","FR",{"type":34,"coordinates":35},"Point",[36,37],2.38487,48.81568,{"lat":37,"lon":36},[40],{"name":41,"role":19,"phone":42,"phoneExt":10,"email":43},"Sonia Gueguen","0033 6 88 34 54 08","sonia.gueguen@radico.fr",{"type":45,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100645346","european-cystinosis-cohort-2-100645346",false,"NCT07680751","European Cystinosis Cohort 2","RaDiCo-ECYSCO2","Inclusion Criteria:\n\n* Confirmed diagnosis of cystinosis based on leukocyte cystine measurement, presence of corneal cystine crystals, and\u002For molecular genetic diagnosis\n* Signed informed consent obtained from the patient or legal representative\n\nExclusion Criteria:\n\n* Patients unable to provide informed consent or without a legal representative when required\n* No other specific exclusion criteria; patients with associated diseases may be included","ALL",{"count":55,"type":56},250,"ESTIMATED","OBSERVATIONAL","This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement. It aims to describe the long-term clinical course under current treatments, focusing on renal and extra-renal complications, survival, and quality of life. It also evaluates treatment effects and explores biomarkers, including inflammatory markers, with biobanking for future research.",[60],"Cystinosis",[60,62,63,64,65],"Rare disease cohort","CTNS mutation","European Study","Cysteamine treatment","NOT_YET_RECRUITING","2026-06-26",{"date":69,"type":70},"2026-07-02","ACTUAL",{"date":72,"type":56},"2026-07-01",{"date":74,"type":56},"2028-03-01",{"name":5,"class":6},1]