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NCT06324136 | RECRUITING | Chronic Kidney Diseases

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

Meyer Children's Hospital IRCCS

Information provided by (Responsible Party):

Paola Romagnani

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.

Condition or disease

Chronic Kidney Diseases

Intervention/treatment

Implementation of the diagnostic algorithm

Phase

NA

Study Type : INTERVENTIONAL
Estimated Enrollment : 300 participants
Masking : NONE
Primary Purpose : DIAGNOSTIC
Official Title : Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Actual Study Start Date : 2023-07-06
Estimated Primary Completion Date : 2026-07-31
Estimated Study Completion Date : 2026-12-30

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 0 Years to 70 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
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.
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases

Location Details

NCT06324136

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How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

Italy,

Meyer Children's Hospital IRCCS

Florence, Italy,

RECRUITING

Italy,

Vanvitelli University Hospital

Naples, Italy,

RECRUITING

Italy,

Paolo Giaccone University Hospital

Palermo, Italy,