[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100508488":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":8,"centralContacts":13,"locations":21,"responsibleParty":42,"collaborators":7,"id":44,"slug":45,"hasResults":46,"nctId":47,"briefTitle":48,"officialTitle":48,"acronym":23,"eligibilityCriteria":49,"healthyVolunteers":46,"sex":50,"minAge":7,"maxAge":7,"enrollmentInfo":51,"targetDuration":7,"studyType":54,"phases":7,"briefSummary":55,"conditions":56,"keywords":58,"overallStatus":24,"whyStopped":7,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":71},{"fullName":5,"class":6},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",null,[9],{"name":10,"affiliation":11,"role":12},"Aude Servais, PHD","INSERM U933","PRINCIPAL_INVESTIGATOR",[14,18],{"name":10,"role":15,"phone":16,"phoneExt":7,"email":17},"CONTACT","0033 1 44 38 15 15","aude.servais@aphp.fr",{"name":19,"role":15,"phone":7,"phoneExt":7,"email":20},"Patrick Niaudet, PHD","patrick.niaudet@aphp.fr",[22],{"facility":23,"status":24,"city":25,"state":26,"zip":27,"country":28,"countryCode":29,"cosmosGeoPoint":30,"geoPoint":35,"contacts":36},"RaDiCo-ECYSCO","RECRUITING","Paris","Île-de-France Region","75012","France","FR",{"type":31,"coordinates":32},"Point",[33,34],2.3488,48.85341,{"lat":34,"lon":33},[37,41],{"name":38,"role":15,"phone":39,"phoneExt":7,"email":40},"Sonia Gueguen, PHD","0033 6 88 34 54 08","sonia.gueguen@radico.fr",{"name":10,"role":12,"phone":7,"phoneExt":7,"email":7},{"type":43,"investigatorFullName":7,"investigatorTitle":7,"investigatorAffiliation":7,"oldNameTitle":7,"oldOrganization":7},"SPONSOR","100508488","european-cystinosis-cohort-100508488",false,"NCT05901077","European Cystinosis Cohort","Inclusion Criteria:\n\n* Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)\n* Signed informed consent\n\nExclusion Criteria:\n\n* Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).","ALL",{"count":52,"type":53},400,"ESTIMATED","OBSERVATIONAL","Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. The lysosomal cystine accumulation leads to cellular dysfunction in many organs. The first symptoms start at about 6 months of age. In the absence of specific therapy, end stage renal disease occurs between 6 and 12 years of age. Survival beyond this age is associated with the development of extra-renal complications.\n\nRenal transplantation and the availability of cystine-depleting medical therapy, cysteamine (EU\u002F1\u002F97\u002F039\u002F001, EU\u002F1\u002F97\u002F039\u002F003), have radically altered the natural history of cystinosis. Cystinosis is a good example of a \"paediatric\" disease where patients now survive into adolescence and adulthood. These individuals have complex, multisystem problems that require on-going care.\n\nDespite some progress in recent years there are still significant limitations in the knowledge of diagnostic and therapeutic procedures. A first European registry was launched in 2011, using the CEMARA application developed by the Banque Nationale de Données Maladies Rares (BNDMR, CNIL authorisation number: 1187326), allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, improve the monitoring, data-management and analysis of the data, offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life with a direct feed-back on the general results.\n\nThis project is a unique opportunity for building a consensual European academic cohort not based on company driven, \"drug-oriented\" objectives.\n\nThe cohort will collect clinical details to analyse patient outcomes thus providing audit of patient care \\& clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.",[57],"Cystinosis",[59,60,61],"Quality of life","Effects of treatments","European Study","2026-02-10",{"date":64,"type":65},"2026-02-12","ACTUAL",{"date":67,"type":65},"2017-04-20",{"date":69,"type":53},"2026-04",{"name":5,"class":6},1]