Testing a personalized genetic diagnosis plan for rare kidney diseases
Tests a personalized plan to find genetic causes of chronic kidney disease.
Plain-language title generated from the registry record
Registry title: Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Key facts
- Where
- Florence, Naples, and Palermo, ItalySee the 3 sites
AI summary: who the study is looking for
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for children and adults with signs that may point to a rare or genetic kidney disease. It tests a genetic diagnosis strategy.
- Age
- 0 Years to 70 Years
- Sex
- All sexes can join.
- Disease stage
- Chronic kidney disease with signs such as protein or blood in the urine, kidney cysts, bright kidneys on ultrasound, or nephrocalcinosis.
- Earlier treatment
- For protein or blood in the urine with immune disease of the kidney: the disease did not respond to treatment such as steroids or immunosuppressive drugs.
- Biomarker or test result
- Not asked for. Persistent acid or alkali imbalance in the blood, or calcium and phosphate problems, with other causes ruled out.
Main reasons for not taking part
- Patient, parents or legal guardian refuse to give informed consent.
Read by machine on 12 November 2026.
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 70 years old?
Source: NCT06324136, who can take part
Where in Italy
- Meyer Children's Hospital IRCCSFlorence, ItalyContact: Paola RomagnaniTaking people
- Azienda Ospedaliero Universitaria VanvitelliNaples, ItalyContact: Miriam ZacchiaTaking people
- Azienda Ospedaliera Universitaria Policlinico Paolo GiacconePalermo, ItalyContact: Santina CottoneTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- Meyer Children's Hospital IRCCS
- Trial code
- NCT06324136
- Record updated
- 21 March 2024
- Original description
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.Read full original descriptionShow less
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
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.
Inclusion: 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: Refusal by the patient, parents, or legal guardian to provide informed consent.