Actively Recruiting
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Led by Meyer Children's Hospital IRCCS · Updated on 2024-03-21
300
Participants Needed
3
Research Sites
181 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Proteinuria and/or hematuria without immune deposits on kidney biopsy or treatment-resistant immune-mediated glomerulopathy
- Family history of kidney diseases and/or consanguinity
- Extrarenal involvement
- Ultrasound showing at least two cysts in each kidney, hyperechogenic kidneys, or nephrocalcinosis
- Persistent metabolic abnormalities (acidosis or alkalosis without kidney function impairment) after excluding secondary causes
- Availability of clinical information
- Signed informed consent form
You will not qualify if you...
- Refusal by the patient, parents, or legal guardian to provide informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Meyer Children's Hospital IRCCS
Florence, Italy
Actively Recruiting
2
Azienda Ospedaliero Universitaria Vanvitelli
Naples, Italy
Actively Recruiting
3
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
Palermo, Italy
Actively Recruiting
Research Team
P
Paola Romagnani, Prof, MD, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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