protocolSection identificationModule nctId: NCT06324136, orgStudyIdInfo id: KIDNEY-PNRR, briefTitle: Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases, statusModule overallStatus: RECRUITING, startDateStruct date: 2023-07-06, primaryCompletionDateStruct date: 2026-07-31, completionDateStruct date: 2026-12-30, studyFirstPostDateStruct date: 2024-03-21, lastUpdatePostDateStruct date: 2024-03-21, sponsorCollaboratorsModule leadSponsor name: Meyer Children's Hospital IRCCS, class: OTHER, descriptionModule briefSummary: Chronic kidney disease (CKD) affects about 10% of the world population, with high morbidity and mortality. Genetic kidney diseases are increasingly recognized across all age groups and represent over 20% of all the causes of CKD. Accurate diagnosis allows necessary and unnecessary diagnostic procedures to be defined, avoids unnecessary treatments, improves prognosis prediction, identifies other family members for genetic counseling, and defines risks for living donor kidney transplantation. The research group coordinated by the Principal Investigator has recently developed an algorithm for the genetic diagnosis in pediatric and adult patients with CKD. The application of this personalized diagnostic algorithm on a local study led to a global diagnostic yield of 70%, suggesting that this strategy has the potential to substantially improve the diagnostic approach to patients with rare kidney disorders. The aim of this study is to validate and implement these results by extending its application in a multicentric study involving nephrology units that are referral centers for rare kidney diseases at national level., conditionsModule conditions: Chronic Kidney Diseases, designModule studyType: INTERVENTIONAL, phases: NA, designInfo allocation: NA, interventionModel: SINGLE_GROUP, primaryPurpose: DIAGNOSTIC, maskingInfo masking: NONE, enrollmentInfo count: 300, type: ESTIMATED, armsInterventionsModule interventions name: Implementation of the diagnostic algorithm, outcomesModule primaryOutcomes measure: Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases, secondaryOutcomes measure: Analysis of the functional role of variant of unknown clinical significance (VUS), secondaryOutcomes measure: Identification of immunological and/or structural factors in genetic and nongenetic forms., secondaryOutcomes measure: Cost-effectiveness of the diagnostic algorithm., eligibilityModule sex: ALL, minimumAge: 0 Years, maximumAge: 70 Years, stdAges: CHILD, stdAges: ADULT, stdAges: OLDER_ADULT, contactsLocationsModule locations facility: Meyer Children's Hospital IRCCS, status: RECRUITING, city: Firenze, country: Italy, contacts name: Paola Romagnani, role: CONTACT, geoPoint lat: 43.77925, lon: 11.24626, locations facility: Azienda Ospedaliero Universitaria Vanvitelli, status: RECRUITING, city: Napoli, country: Italy, contacts name: Miriam Zacchia, role: CONTACT, geoPoint lat: 40.85216, lon: 14.26811, locations facility: Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone, status: RECRUITING, city: Palermo, country: Italy, contacts name: Santina Cottone, role: CONTACT, geoPoint lat: 38.13205, lon: 13.33561, hasResults: False