Clinical trial NCT06324136: Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Official title: Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Chronic Kidney Diseases
Lead sponsor: Meyer Children's Hospital IRCCS
Sponsor class: OTHER
First posted: 2024-03-21
Enrollment: 300
Sex: ALL
Minimum age (years): 0
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief summary: 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.


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.

Primary outcomes:
measure: Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases
timeFrame: From enrollment of the first patient until the end of the study (up to 24 months)
Secondary outcomes:
measure: Analysis of the functional role of variant of unknown clinical significance (VUS)
timeFrame: Form enrollment until the last follow up visit (up to 12 months)
measure: Identification of immunological and/or structural factors in genetic and nongenetic forms.
timeFrame: Form enrollment until the last follow up visit (up to 12 months)
measure: Cost-effectiveness of the diagnostic algorithm.
timeFrame: From enrollment of the last patient until the end of the study (up to 24 months)
Other outcomes:
Locations:
city: Firenze
country: Italy
facility: Meyer Children's Hospital IRCCS
city: Napoli
country: Italy
facility: Azienda Ospedaliero Universitaria Vanvitelli
city: Palermo
country: Italy
facility: Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
Study officials:
References: