Personalized diagnosis strategy for rare kidney diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to validate and implement a personalized diagnostic algorithm for chronic kidney diseases (CKD), particularly focusing on genetic kidney disorders. The algorithm has shown a promising diagnostic yield of 70% in previous local applications, indicating its potential to enhance the accuracy of diagnoses. By accurately identifying genetic causes of CKD, the study seeks to improve patient management, reduce unnecessary treatments, and facilitate genetic counseling for affected families. The research will involve patients with specific clinical criteria, including proteinuria, family history of kidney diseases, and certain ultrasound findings.

Why it matters

Who can join: the full rules

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.

Where it's running

• Meyer Children's Hospital IRCCS
  Florence, Italy Recruiting
• Azienda Ospedaliero Universitaria Vanvitelli
  Naples, Italy Recruiting
• Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
  Palermo, Italy Recruiting

Study contacts

• Study coordinator: Paola Romagnani, Prof, MD, PhD
• Email: paola.romagnani@meyer.it
• Phone: 055 5662562

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.