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
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, ItalyTaking people
- Azienda Ospedaliero Universitaria VanvitelliNaples, ItalyTaking people
- Azienda Ospedaliera Universitaria Policlinico Paolo GiacconePalermo, ItalyTaking 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?
Trial 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.