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

NCT06324136 | Recruiting

• 1 other identifier: KIDNEY-PNRR
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 3

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.

Conditions

Chronic Kidney Diseases

Outcome Measures

Primary Outcomes (1)

• Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases

  The previously established diagnostic algorithm for rare kidney diseases will be extended to out-of-region centers with a multicenter study design. This outcome will be assessed as diagnostic rate of the algorithm, i.e., number of conclusive genetic diagnosis/number of patients enrolled.

  From enrollment of the first patient until the end of the study (up to 24 months)

Secondary Outcomes (3)

• Analysis of the functional role of variant of unknown clinical significance (VUS)

  Form enrollment until the last follow up visit (up to 12 months)

• Identification of immunological and/or structural factors in genetic and nongenetic forms.

  Form enrollment until the last follow up visit (up to 12 months)

• Cost-effectiveness of the diagnostic algorithm.

  From enrollment of the last patient until the end of the study (up to 24 months)

Study Arms (1)

Rare kidney diseases

EXPERIMENTAL

Patients with rare kidney diseases

Diagnostic Test: Implementation of the diagnostic algorithm

Interventions

Implementation of the diagnostic algorithm DIAGNOSTIC_TEST

Patients will be selected based on specific clinical criteria and referred to the tertiary center for genetic testing. All selected patients will undergo genetic testing by whole-exome sequencing (WES), followed by in silico analysis for an extended panel of genes associated with kidney diseases. The results of genetic testing will be evaluated by a multidisciplinary team of experts to establish conclusive diagnosis.

Rare kidney diseases

Eligibility Criteria

• Age: 0 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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;
• availability of clinical information.
• signed informed consent form

You may not qualify if:

• Refusal by the patient, parents, or legal guardian to provide informed consent.

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (3)

Meyer Children's Hospital IRCCS

Florence, Italy

RECRUITING

Azienda Ospedaliero Universitaria Vanvitelli

Napoli, Italy

RECRUITING

Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone

Palermo, Italy

RECRUITING

MeSH Terms

Conditions

Renal Insufficiency, Chronic

Condition Hierarchy (Ancestors)

Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Paola Romagnani, Prof, MD, PhD

CONTACT

055 5662562; paola.romagnani@meyer.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, MD, PhD

Study Record Dates

• First Submitted: March 1, 2024
• First Posted: March 21, 2024
• Study Start: July 6, 2023
• Primary Completion (Estimated): July 31, 2026
• Study Completion (Estimated): December 30, 2026
• Last Updated: March 21, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (3)