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NCT Number: NCT06324136

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.

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Key information

Conditions

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

Age range

0 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Meyer Children's Hospital IRCCS, Florence, Italy

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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.

Primary outcomes

  1. Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases

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

    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.

Secondary outcomes

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

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

    Analysis of the functional role of VUS identified by WES by in vitro functional studies and 3D-organ-on-a-chip models obtained by patients-specific urine-derived renal progenitor cells (u-RPC) cultures

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

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

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

    In particular, the investigators will assess:

    • the presence of anti-nephrin antibodies on serum samples and/or kidney biopsy of patients (performed for diagnostic purposes)

  3. Cost-effectiveness of the diagnostic algorithm.

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

    A modeled cost-effectiveness analysis (including direct and indirect medical costs) will be performed to compare the proposed diagnostic algorithm with the current standard-of-care.

Study contacts

Contact information is provided by the study sponsor or research team.

Paola Romagnani, Prof, MD, PhD

CONTACT

[email protected]

055 5662562

Sponsors and collaborators

Lead sponsor

Meyer Children's Hospital IRCCS

Other

Registry information

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Mar 21, 2024
Registry last updated
Mar 21, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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