Chronic Kidney DiseasesNCT06324136
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
A study testing Implementation of the diagnostic algorithm in people with Chronic Kidney Diseases, run by Meyer Children's Hospital IRCCS at 3 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 70 years
- Conditions the study is for
- Chronic Kidney Diseases
- What is being tested?
- Implementation of the diagnostic algorithm
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 300 participants
- Where
- 3 sitesItaly
- Study dates
- 6 Jul 2023to 30 Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Refusal by the patient, parents, or legal guardian to provide informed consent.
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy3 sites, 3 recruiting
- Recruiting
Meyer Children's Hospital IRCCS
Florence
Paola Romagnani
- Recruiting
Azienda Ospedaliero Universitaria Vanvitelli
Naples
Miriam Zacchia
- Recruiting
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
Palermo
Santina Cottone
About this study
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
- Chronic Kidney Diseases
- Being tested
- Implementation of the diagnostic algorithm
- Medical subject headings
- Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Implementation of the diagnostic algorithmDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| Rare kidney diseases | Experimental | Patients with rare kidney diseases Receives: Diagnostic Test: Implementation of the diagnostic algorithm |
What is being measured
The primary outcome is the main question the study is designed to answer.
Implementation of a diagnostic algorithm for personalized diagnosis of rare kidney diseases
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.
Measured: From enrollment of the first patient until the end of the study (up to 24 months)
Secondary outcomes (3)
Analysis of the functional role of variant of unknown clinical significance (VUS)
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
Measured: Form enrollment until the last follow up visit (up to 12 months)
Identification of immunological and/or structural factors in genetic and nongenetic forms.
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)
Measured: Form enrollment until the last follow up visit (up to 12 months)
Cost-effectiveness of the diagnostic algorithm.
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.
Measured: From enrollment of the last patient until the end of the study (up to 24 months)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2024
- Study start6 Jul 2023
- Primary completion31 Jul 2026 (estimated)
- Study completion30 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chronic Kidney DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Paola Romagnani, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06324136
- Sponsor's protocol ID
- KIDNEY-PNRR
- Status last verified
- Mar 2024
- First submitted
- 1 Mar 2024
- Last updated
- 21 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
- ClinicalTrials.gov ID
- NCT06324136
- Acronym / sponsor ID
- KIDNEY-PNRR
- Conditions
- Chronic Kidney Diseases
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Meyer Children's Hospital IRCCSUniversity, hospital or other
- Study start
- 6 Jul 2023 (actual)
- Primary completion
- 31 Jul 2026 (estimated)
- Study completion
- 30 Dec 2026 (estimated)
- First posted
- 21 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rare kidney diseases | Experimental | Diagnostic Test: Implementation of the diagnostic algorithmPatients with rare kidney diseases |
Who may qualify
- Ages
- 0 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- 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;
Key exclusion criteria (1 listed)
- Refusal by the patient, parents, or legal guardian to provide informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Implementation of the diagnostic algorithmPatients 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. | Diagnostic test | Rare kidney diseases |
Primary outcome
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.
3 secondary outcomes
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)
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)
Cost-effectiveness of the diagnostic algorithm.
Time frame: From enrollment of the last patient until the end of the study (up to 24 months)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Mar 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Implementation of the diagnostic algorithm in people with Chronic Kidney Diseases, run by Meyer Children's Hospital IRCCS at 3 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 21 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Paola Romagnani, Prof, MD, PhD (055 5662562, paola.romagnani@meyer.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Mar 2024.