Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases - Trial NCT06324136

Timeline & Enrollment

Primary Outcome

Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases

Summary

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.

ICD-10 Classifications