protocolSection identificationModule nctId: NCT06325072, orgStudyIdInfo id: NIKE, briefTitle: Set-up of a Platform for Personalized Diagnosis of Rare Kidney Diseases (NIKE), statusModule overallStatus: ACTIVE_NOT_RECRUITING, startDateStruct date: 2021-07-09, primaryCompletionDateStruct date: 2023-06-27, completionDateStruct date: 2024-06-30, studyFirstPostDateStruct date: 2024-03-22, lastUpdatePostDateStruct date: 2024-03-22, sponsorCollaboratorsModule leadSponsor name: Meyer Children's Hospital IRCCS, class: OTHER, descriptionModule briefSummary: Chronic kidney disease (CKD) is a major health problem, with steadily increasing incidence and prevalence and the threat of a true "epidemic". Converging evidence suggests a high prevalence of genetic etiology in rare kidney diseases and the list of new disease-causing genes is constantly updated. Recent advances in next-generation sequencing (NGS) technologies have prompted a significant improvement in the diagnosis of rare kidney diseases. Notwithstanding this, NGS generates high numbers of information that need to be properly analysed by the joint efforts of geneticists, nephrologists and bioinformatics in order to integrate clinical and genetic information in a personalized manner. In addition, in selected cases, the contribution of researchers proves essential for the development of experimental models of the disease to study and understand the pathogenic features and propose a personalized therapeutic approach. Such an innovative, integrated diagnostic paradigm is currently available in few centers all over the world and cannot be easily translated in daily clinical practice.The aim of the study is to set-up an integrated diagnostic algorithm to extend the newest personalized diagnostic and treatment strategies for rare kidney diseases to all patients in the Tuscany region, under 40 years of age with kidney disease. This algorithm will be based on a constant cross-talk between participating centers and a dedicated multidisciplinary team. Diagnostic and therapeutic performances will be validated at European level., conditionsModule conditions: Chronic Kidney Diseases, designModule studyType: INTERVENTIONAL, phases: NA, designInfo allocation: NON_RANDOMIZED, interventionModel: PARALLEL, interventionModelDescription: Patients selected based on the inclusion criteria will be evaluated by a multidisciplinary team of experts. All the selected patients will undergo genetic testing by clinical exome sequencing and in silico filtering for a panel of genes described as causing or in association with CKD. Identified variants will be classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Reverse phenotyping will be performed according to the results of genetic testing. The results of the diagnostic work-up will be evaluated by a multi-disciplinary team of experts in order to establish conclusive diagnosis., primaryPurpose: DIAGNOSTIC, maskingInfo masking: NONE, enrollmentInfo count: 160, type: ESTIMATED, armsInterventionsModule interventions name: Conclusive genetic testing, interventions name: Genotype-phenotype correlation for personalized diagnosis, interventions name: Personalized study of variants of uncertain clinical significance (VUS) through functional studies on 3D organ-on-a-chip, outcomesModule primaryOutcomes measure: Validation of genetic diagnosis, secondaryOutcomes measure: Identification of molecular pathways, secondaryOutcomes measure: Explore the applicability of gene editing in rare kidney diseases, eligibilityModule sex: ALL, maximumAge: 40 Years, stdAges: CHILD, stdAges: ADULT, contactsLocationsModule locations facility: Azienda Ospedaliero Universitaria Careggi, city: Firenze, country: Italy, geoPoint lat: 43.77925, lon: 11.24626, locations facility: Meyer Children's Hospital IRCCS, city: Firenze, country: Italy, geoPoint lat: 43.77925, lon: 11.24626, locations facility: USL Toscana Centro, city: Firenze, country: Italy, geoPoint lat: 43.77925, lon: 11.24626, locations facility: Azienda Ospedaliero Universitaria Pisana, city: Pisa, country: Italy, geoPoint lat: 43.70853, lon: 10.4036, hasResults: False