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

Plain-language summary

This study aims to validate, implement, and analyze the cost of a diagnostic algorithm (strategy) for the personalized diagnosis of rare kidney diseases. It enrolls patients who have protein or blood in the urine, a family history of kidney disease, or findings such as cysts on kidney imaging. It is a study with no assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Recruiting

Sponsor

Meyer Children's Hospital IRCCS

Intervention

Implementation of the diagnostic algorithm

Start date

7/6/2023

Estimated completion

12/30/2026

Countries

Italy

Related genes

Locations

• Florence, Italy
• Naples, Italy
• Palermo, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.