Preliminary Clinical Characterization of the ORIENTING Cohort for Trio Genetic Analysis

Background: Chronic Kidney Disease often has a genetic basis, yet many patients lack a molecular diagnosis.The ORIENTING study aims to assemble a well-phenotyped CKD cohort for subsequent trio genomic analysis to enhance diagnostic accuracy and guide personalized management Methods: From January to May2025, 89patients were recruited across four Italian nephrology centers. Eligibility included a previous non conclusive genetic test other than WGS and availability of both parents. At first visit we recorded age, sex, main clinical presentation,blood pressure,eGFR(CKD-EPI),and Clinical Genetic Scoring System. Continuous variables are reported as median; categorical as n(%) Results: Median age was 57.2 years; 65% female(Tab1). The most common presentations were glomerulopathy(30%),cystic kidney disease(27%) and CAKUT(7%)(Fig1).CGSS ranged 0–7; 52% scored≥1, indicating moderate to high pretest probability of monogenic disease(Fig2).Data completeness exceeded 90% for all key variables Conclusion: The ORIENTING recruitment cohort is phenotypically diverse, with over half of patients having elevated CGSS scores.These preliminary data support the selection of high-priority samples for trio genomic sequencing to maximize monogenic diagnosis yield in CKD.Minister of Healt PNRR-MCNT2-2023-12377268 Funding: Government Support – Non-U.S.