{"doc_desc":{"title":"Cohorte de patients atteints de syndrome d\u2019Alport","idno":"FRESH-PEF32159-fr","producers":[{"name":"Laurence HEIDET","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF32159-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"32159"},{"agency":"FReSH","code":"FRESH-PEF32159"}]},"title":"Cohorte de patients atteints de syndrome d\u2019Alport","alternate_title":""},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"CPP"}]},"authoring_entity":[{"type":"investigator","name":"Laurence;HEIDET","PILabo":"Necker Hospital for Children","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0002-1362-5515","role":"pi id"},{"title":"IdRef","uri":"169607003","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"laurence.heidet@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":"Dans le cadre du programme RADICO (Rare Disease Cohorts), la cohorte RaDiCo-EURBIO-Alport va \u00eatre mise en place pour \u00e9tendre \u00e0 l'Europe la base de donn\u00e9es sur le syndrome d\u2019Alport.","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSO SOCIETE FRANCAISE DE NEPHROLOGIE","extlink":[{"title":"SIREN","uri":"352216220","role":"sponsor id"}],"role":"sponsor"},{"name":"","extlink":[],"role":"sponsor"}],"funding_agencies":[{"name":""}]},"distribution_statement":{"contact":[{"name":"Laurence;HEIDET","email":"laurence.heidet@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"syndrome d'Alport"},{"keyword":"maladie h\u00e9r\u00e9ditaire"},{"keyword":"maladie rare"}],"topics":[{"topic":"Surdit\u00e9 g\u00e9n\u00e9tique syndromique","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/186534168","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"}],"purpose":"Conna\u00eetre l'histoire naturelle de la maladie. 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