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Hôpital Brabois Enfants","Vandœuvre-lès-Nancy","54500",{"type":39,"coordinates":182},[183,184],6.17114,48.66115,{"lat":184,"lon":183},[187,191],{"name":188,"role":22,"phone":189,"phoneExt":24,"email":190},"Mario PONGAS, MD PHD","03 83 15 47 41","a.pongas@outlook.com",{"name":188,"role":50,"phone":10,"phoneExt":10,"email":10},{"facility":193,"status":33,"city":194,"state":10,"zip":195,"country":196,"countryCode":197,"cosmosGeoPoint":198,"geoPoint":202,"contacts":203},"Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen","Hanover","30625","Germany","DE",{"type":39,"coordinates":199},[200,201],9.73322,52.37052,{"lat":201,"lon":200},[204,209],{"name":205,"role":22,"phone":206,"phoneExt":207,"email":208},"Dieter HAFFNER, PU PH","511 532 3220","+49","haffner.dieter@mh-hannover.de",{"name":205,"role":50,"phone":10,"phoneExt":10,"email":10},{"facility":211,"status":33,"city":212,"state":10,"zip":213,"country":214,"countryCode":215,"cosmosGeoPoint":216,"geoPoint":220,"contacts":221},"IRCCS Ospedale Pediatrico Bambino Gesù","Roma","00146","Italy","IT",{"type":39,"coordinates":217},[218,219],11.10642,44.99364,{"lat":219,"lon":218},[222,227,230,231],{"name":223,"role":22,"phone":224,"phoneExt":225,"email":226},"Marcella GRECO, MD PHD","06 68592393","+39","marcella.greco@opbg.net",{"name":228,"role":22,"phone":224,"phoneExt":225,"email":229},"Francesco EMMA, PU PH","francesco.emma@opbg.net",{"name":223,"role":50,"phone":10,"phoneExt":10,"email":10},{"name":228,"role":115,"phone":10,"phoneExt":10,"email":10},{"facility":233,"status":33,"city":234,"state":10,"zip":235,"country":236,"countryCode":10,"cosmosGeoPoint":237,"geoPoint":241,"contacts":242},"Hacettepe University Faculty of Medicine","Ankara","06100","Turkey (Türkiye)",{"type":39,"coordinates":238},[239,240],32.85427,39.91987,{"lat":240,"lon":239},[243,248],{"name":244,"role":22,"phone":245,"phoneExt":246,"email":247},"Rezan TOPALOGLU, PU PH","312 3051863","+90","rezantopaloglu@hacettepe.edu.tr",{"name":244,"role":50,"phone":10,"phoneExt":10,"email":10},{"type":250,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100356359","cystea-bone-clinical-study-100356359",false,"NCT03919981","CYSTEA-BONE Clinical Study","A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.","CYSTEA-BONE","Inclusion Criteria:\n\n* Male and female subjects with confirmed diagnosis of nephropathic cystinosis (defined by clinical signs, White Blood Cells (WBC) cystine level and\u002For mutation), currently receiving oral cysteamine.\n* Age \\> 2 years.\n* Subjects and\u002For their parents\u002F legal guardian must provide non opposition prior to participation in the study.\n\nExclusion Criteria:\n\n* Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.","ALL","2 Years",{"count":262,"type":263},50,"ESTIMATED","OBSERVATIONAL","Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin.\n\nPatients with NC usually receive cysteamine. Bone impairment was recently recognized as a late complication of NC, occurring at adolescence or early adulthood. Even though the exact underlying pathophysiology is unclear, at least six hypotheses are discussed, and mainly cysteamine toxicity and\u002For direct bone effect of the Cystinosin (CTNS) mutation. Because of the potential dramatic impact on quality of life of this novel complication, research should aim to better understand bone disease in NC.\n\nThe primary objective of this study is to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype. The Secondary objective is to describe the clinical bone status of NC patients depending on their underlying genotype.",[267],"Nephropathic Cystinosis","2025-02-27",{"date":270,"type":271},"2025-03-03","ACTUAL",{"date":273,"type":271},"2019-04-05",{"date":275,"type":263},"2026-10-05",{"name":5,"class":6},13]