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

Condition(s) studied

Investigational drug(s) / intervention(s)

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.

Study 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.

Eligibility

Primary outcome measure(s)

• Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases — From enrollment of the first patient until the end of the study (up to 24 months)
  The previously established diagnostic algorithm for rare kidney diseases will be extended to out-of-region centers with a multicenter study design. This outcome will be assessed as diagnostic rate of the algorithm, i.e., number of conclusive genetic diagnosis/number of patients enrolled.

Trial sites (3)

More Meyer Children's Hospital IRCCS trials in Italy

Other trials for the same condition