Personalized diagnosis strategy for rare kidney diseases
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
This study is testing a new personalized approach to diagnose rare kidney diseases in patients with certain symptoms to see if it can improve accuracy and help with better treatment options.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 300 (estimated) |
| Ages | 0 Years to 70 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 3 sites (Florence and 2 other locations) |
| Trial ID | NCT06324136 on ClinicalTrials.gov |
What this trial studies
This study aims to validate and implement a personalized diagnostic algorithm for chronic kidney diseases (CKD), particularly focusing on genetic kidney disorders. The algorithm has shown a promising diagnostic yield of 70% in previous local applications, indicating its potential to enhance the accuracy of diagnoses. By accurately identifying genetic causes of CKD, the study seeks to improve patient management, reduce unnecessary treatments, and facilitate genetic counseling for affected families. The research will involve patients with specific clinical criteria, including proteinuria, family history of kidney diseases, and certain ultrasound findings.
Who should consider this trial
Good fit: Ideal candidates include individuals with chronic kidney disease exhibiting specific clinical features such as proteinuria, family history of kidney diseases, or ultrasound evidence of kidney abnormalities.
Not a fit: Patients who do not meet the inclusion criteria or those who refuse to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could significantly improve the diagnostic accuracy and management of patients with rare kidney diseases.
How similar studies have performed: Previous studies utilizing similar personalized diagnostic approaches have shown promising results, indicating potential for success in this study.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Florence and 2 other locations
- Meyer Children's Hospital IRCCS — Florence, Italy (Recruiting)
- Azienda Ospedaliero Universitaria Vanvitelli — Naples, Italy (Recruiting)
- Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone — Palermo, Italy (Recruiting)
Study contacts
- Study coordinator: Paola Romagnani, Prof, MD, PhD
- Email: paola.romagnani@meyer.it
- Phone: 055 5662562
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.