NCT06324136Recruiting
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Source: ClinicalTrials.gov · Last updated 21 Mar 2024 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 300 (estimated)
- First submitted
- 1 Mar 2024
- Start date
- 6 Jul 2023
- Primary completion date
- 31 Jul 2026
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Diseases
- Chronic kidney disease
- NCT number
- NCT06324136
What you commit to
- Study type: Interventional
- Planned participants: 300
- From 6 Jul 2023 to the primary completion date, 31 Jul 2026
- 3 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Refusal by the patient, parents, or legal guardian to provide informed consent.
Who the study is looking for
- 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
Age in the registry: 0 years to 70 years · Sex: All · Does not accept healthy volunteers
Sites (3)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Meyer Children's Hospital IRCCS Coordinator of this site? Confirm its status | Florence | Italy | Recruiting |
| Azienda Ospedaliero Universitaria Vanvitelli Coordinator of this site? Confirm its status | Naples | Italy | Recruiting |
| Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Coordinator of this site? Confirm its status | Palermo | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.