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

Status: Recruiting
Location: See all (3) locations...
Intervention Type: Diagnostic test
Study Type: Interventional
Study Phase: Not Applicable
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
Participation Requirements
Sex: All
Maximum Age: 70
Healthy Volunteers: f
View:

• proteinuria and/or hematuria in the absence of immune deposits on renal biopsy or immune-mediated glomerulopathy resistant to treatment (e.g., steroids, immunosuppressive drugs);

• family history of kidney diseases and/or consanguinity;

• extrarenal involvement;

• ultrasound evidence of at least two cysts in each kidney or hyperechogenic kidneys or nephrocalcinosis;

• persistent metabolic abnormalities (metabolic acidosis or alkalosis without kidney function impairment; calcium phosphate metabolism abnormalities) after exclusion of secondary causes;

• availability of clinical information.

• signed informed consent form

Locations
Other Locations
Italy
Meyer Children's Hospital IRCCS
RECRUITING
Florence
Azienda Ospedaliero Universitaria Vanvitelli
RECRUITING
Napoli
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
RECRUITING
Palermo
Contact Information
Primary
Paola Romagnani, Prof, MD, PhD
paola.romagnani@meyer.it
055 5662562
Time Frame
Start Date: 2023-07-06
Estimated Completion Date: 2026-12-30
Participants
Target number of participants: 300
Treatments
Experimental: Rare kidney diseases
Patients with rare kidney diseases
Related Therapeutic Areas
Sponsors
Leads: Meyer Children's Hospital IRCCS

This content was sourced from clinicaltrials.gov