NCT06324136

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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 300 (estimated)
• Sponsor: Meyer Children's Hospital IRCCS · Academic / Other
• Sex: All
• Age: 0 Years – 70 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Chronic Kidney Diseases

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Implementation of the diagnostic algorithm	Patients will be selected based on specific clinical criteria and referred to the tertiary center for genetic testing. All selected patients will undergo genetic testing by whole-exome sequencing (WES), followed by in silico analysis for an extended panel of genes associated with kidney diseases. The results of genetic testing will be evaluated by a multidisciplinary team of experts to establish conclusive diagnosis.

Timeline

• Start date: 2023-07-06
• Primary completion: 2026-07-31
• Completion: 2026-12-30
• First posted: 2024-03-21
• Last updated: 2024-03-21

Locations

3 sites across 1 country: Italy