Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Implementation of the diagnostic algorithm.
- Who it may be relevant to
- Registry conditions: Chronic Kidney Diseases. Basic parameters: 0 years — 70 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- 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.
Primary outcome measures
- Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases [Time frame: From enrollment of the first patient until the end of the study (up to 24 months)]
Secondary outcome measures (3)
- Analysis of the functional role of variant of unknown clinical significance (VUS) [Time frame: Form enrollment until the last follow up visit (up to 12 months)]
- Identification of immunological and/or structural factors in genetic and nongenetic forms. [Time frame: Form enrollment until the last follow up visit (up to 12 months)]
- Cost-effectiveness of the diagnostic algorithm. [Time frame: From enrollment of the last patient until the end of the study (up to 24 months)]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- Refusal by the patient, parents, or legal guardian to provide informed consent.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
Italy · 3 centers
- Meyer Children's Hospital IRCCS — Florence
- Azienda Ospedaliero Universitaria Vanvitelli — Naples
- Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone — Palermo
Identifiers
NCT: NCT06324136 · KIDNEY-PNRR