CiliopathiesCILLICORIRCMNCT04874909
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
A study testing Blood sample and Urine sample in people with Ciliopathies and Nephronophthisis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure. The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome
- What is being tested?
- Blood sample and Urine sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 240 participants
- Where
- 1 siteFrance
- Study dates
- 8 Nov 2021to 29 Oct 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- "Case" Patient :
- with nephronophthisis or ciliopathy with known genetic diagnosis or not
- signed the Informed consent form (patient or legal guardians if minor/incapable major)
- no limit of age, this patients could be recruited from the birth
- social insurance affiliation
- Healthy related individual :
Show all 20Show fewer
- related with a included patient (father, mother, brother, sister)
- signed the Informed consent form (major or legal guardians if minor/incapable major)
- no limit of age, this patients could be recruited from the birth
- social insurance affiliation
- "Negative Control" patient :
- without chronic renal failure
- signed the Informed consent form (major or legal guardians if minor/incapable major)
- no limit of age, this patients could be recruited from the birth
- social insurance affiliation
- "Positive Control" patient :
- with chronic renal failure not related with a ciliary dysfunction
- signed the Informed consent form (major or legal guardians if minor/incapable major)
- no limit of age, this patients could be recruited from the birth
- social insurance affiliation
Who cannot join
- pregnant, parturious and nursing mothers.
- with functional renal graft
- use an experimental treatment during 30 days before inclusion date
- Healthy related individual :
- pregnant, parturious and nursing mothers.
- "Negative Control" patient :
Show all 11Show fewer
- pregnant, parturious and nursing mothers.
- "Positive Control" patient :
- pregnant, parturious and nursing mothers.
- with functional renal graft
- use an experimental treatment during 30 days before inclusion date
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.
Read the detailed description
Ciliopathies are a large group of rare and severe genetic diseases caused by ciliary dysfunction, in which nearly all organs can be affected. In spite of being individually rare, they affect collectively up to one per 2000 people. Over the past two decades, more than 90 genes have been reported as mutated in ciliopathy patients. Most proteins encoded by these genes play key roles in the biogenesis or function of cilia, in which they define different functional subdomains. Genetic analyses of ciliopathies revealed a vast clinical variability and a broad genetic heterogeneity as: 1) mutations of the same disease-causing gene can result in distinct clinical entities and, conversely, 2) mutations in several independent genes can lead to similar clinical features, implying both phenotypic and genetic overlaps. The extent and severity of organ involvement may be correlated in part with the nature or location of the mutational event, the cell/tissue specific expression and effect of the mutated protein on cilia dysfunction.
Renal involvement is one of the most frequent manifestations in ciliopathies, and it leads to excessive morbidity and mortality. This includes renal cystic dysplasia (RCD), a kidney developmental defect, and nephronophthisis (NPHP), a chronic tubulointerstitial nephritis, both disorders representing frequent causes of end-stage renal disease (ESRD) during childhood to early adulthood. This makes ESRD a terminal endpoint of either isolated or syndromic ciliopathies, with, hitherto, no available curative treatment of chronic kidney disease whatsoever. The only bearable option is renal transplantation. As the average life-span of a functioning kidney transplant is about 10-15 years, it is urgent to identify therapeutic solutions that slow down progression of CKD in ciliopathies, and delay or avoid dialysis or transplantation. Today, the diagnosis of ciliopathies is first based on primary clinical manifestations, and then confirmed by gene mutation identification. However, even in patients with identified causative mutations, it is impossible to predict the severity of the disease, the risk of appearance (if not present at diagnosis), and/or the rate of progression of CKD. Thus, a crucial issue in the field of ciliopathies is to be able to perform early detection of at-risk patients prior to development of CKD as well as to predict disease progression rate.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome, Jeune Syndrome, Bardet-Biedl Syndrome
- Being tested
- Blood sample, Urine sample
- Keywords
- Ciliopathies, Pediatrics, Genetic diseases, Chronic Kidney Disease, Biomarkers
- Medical subject headings
- Ciliopathies, Nephronophthisis, familial juvenile, Senior Loken Syndrome, Agenesis of Cerebellar Vermis, Jeune syndrome, Bardet-Biedl Syndrome, Genetic Diseases, Inborn, Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleOther
Blood sample of 15ml max by subject (case, related individual, control) once time:
- subject less than 5 kg : 1.8 to 4.5 ml max
- subject 5 kg to 10 kg : 4.5 to 9 ml max
- subject 10 kg to 15 kg : 9 to 13.5 ml
- subject 15 kg to 20 kg : 13.5 to 15 ml max
Urine sampleOther
Urine sample (500 ml) once time
| Study group | Role | What they receive |
|---|---|---|
| "Case" Patient | Other | Patient with ciliopathy Receives: Other: Blood sample; Other: Urine sample |
| Healthy related individual | Other | Individual without ciliopathy but related to a patient with ciliopathy (father, mother, brother, sister) Receives: Other: Blood sample; Other: Urine sample |
| "Negative Control" patient | Other | patient without renal disease Receives: Other: Blood sample; Other: Urine sample |
| "Positive Control" patient | Other | patient with renal disease other that ciliopathy but with a similar renal function to the ciliopathy group ("case" patient) Receives: Other: Blood sample; Other: Urine sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in transcriptional profiles in different subtypes of ciliopathy patients and control subjects
RNA-sequencing analysis will be utilized to identify changes in transcriptional profiles and biological pathways in subgroups of patients to research whether the target mutation gene combination analyzed by transcription group was consistent with clinical cell morphological diagnosis and disease progression.
Different human models will be used: Urine-derived Renal Epithelial Cells (URECs), renal organoids from patients derived induced Pluripotent Stem Cells (iPSCs) and urines.
Measured: 3 years
Secondary outcomes (2)
Change in proteome profiles in different subtypes of ciliopathy patients and control subjects
Proteomics analysis will be utilized to identify changes in proteome profiles in subgroups of patients to research whether the target mutation gene combination analyzed by proteomics group was consistent with clinical cell morphological diagnosis and disease progression.
Different human models will be used: Urine-derived Renal Epithelial Cells (URECs), renal organoids from patients derived induced Pluripotent Stem Cells (iPSCs) and urines.
Measured: 3 years
Change in metabolome profiles in different subtypes of ciliopathy patients and control subjects
Metabolomics analysis will be utilized to identify changes in metabolome profiles in subgroups of patients to research whether the target mutation gene combination analyzed by metabolomics group was consistent with clinical cell morphological diagnosis and disease progression.
Different human models will be used: Urine-derived Renal Epithelial Cells (URECs), renal organoids from patients derived induced Pluripotent Stem Cells (iPSCs) and urines.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2021
- Study start8 Nov 2021
- Primary completion29 Oct 2024
- Study completion29 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CiliopathiesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 240 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Sophie SAUNIER, PhD, Study chair, Imagine Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04874909
- Sponsor's protocol ID
- APHP200896
- Other IDs
- ID-RCB Number
- Acronym
- CILLICORIRCM
- Status last verified
- Apr 2026
- First submitted
- 31 Mar 2021
- Last updated
- 6 May 2026
- 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 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis
- ClinicalTrials.gov ID
- NCT04874909
- Acronym / sponsor ID
- CILLICORIRCM / APHP200896
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome, Jeune Syndrome, Bardet-Biedl Syndrome
- Keywords
- Ciliopathies, Pediatrics, Genetic diseases, Chronic Kidney Disease, Biomarkers
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 240 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 8 Nov 2021 (actual)
- Primary completion
- 29 Oct 2024 (actual)
- Study completion
- 29 Oct 2024 (actual)
- First posted
- 6 May 2021 (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.
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.
Detailed description
Ciliopathies are a large group of rare and severe genetic diseases caused by ciliary dysfunction, in which nearly all organs can be affected. In spite of being individually rare, they affect collectively up to one per 2000 people. Over the past two decades, more than 90 genes have been reported as mutated in ciliopathy patients. Most proteins encoded by these genes play key roles in the biogenesis or function of cilia, in which they define different functional subdomains. Genetic analyses of ciliopathies revealed a vast clinical variability and a broad genetic heterogeneity as: 1) mutations of the same disease-causing gene can result in distinct clinical entities and, conversely, 2) mutations in several independent genes can lead to similar clinical features, implying both phenotypic and genetic overlaps. The extent and severity of organ involvement may be correlated in part with the nature or location of the mutational event, the cell/tissue specific expression and effect of the mutated protein on cilia dysfunction.
Renal involvement is one of the most frequent manifestations in ciliopathies, and it leads to excessive morbidity and mortality. This includes renal cystic dysplasia (RCD), a kidney developmental defect, and nephronophthisis (NPHP), a chronic tubulointerstitial nephritis, both disorders representing frequent causes of end-stage renal disease (ESRD) during childhood to early adulthood. This makes ESRD a terminal endpoint of either isolated or syndromic ciliopathies, with, hitherto, no available curative treatment of chronic kidney disease whatsoever. The only bearable option is renal transplantation. As the average life-span of a functioning kidney transplant is about 10-15 years, it is urgent to identify therapeutic solutions that slow down progression of CKD in ciliopathies, and delay or avoid dialysis or transplantation. Today, the diagnosis of ciliopathies is first based on primary clinical manifestations, and then confirmed by gene mutation identification. However, even in patients with identified causative mutations, it is impossible to predict the severity of the disease, the risk of appearance (if not present at diagnosis), and/or the rate of progression of CKD. Thus, a crucial issue in the field of ciliopathies is to be able to perform early detection of at-risk patients prior to development of CKD as well as to predict disease progression rate.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| "Case" Patient | Other | Other: Blood sample, Other: Urine samplePatient with ciliopathy |
| Healthy related individual | Other | Other: Blood sample, Other: Urine sampleIndividual without ciliopathy but related to a patient with ciliopathy (father, mother, brother, sister) |
| "Negative Control" patient | Other | Other: Blood sample, Other: Urine samplepatient without renal disease |
| "Positive Control" patient | Other | Other: Blood sample, Other: Urine samplepatient with renal disease other that ciliopathy but with a similar renal function to the ciliopathy group ("case" patient) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (20 listed)
- with nephronophthisis or ciliopathy with known genetic diagnosis or not
- signed the Informed consent form (patient or legal guardians if minor/incapable major)
- no limit of age, this patients could be recruited from the birth
- social insurance affiliation
- related with a included patient (father, mother, brother, sister)
Key exclusion criteria (11 listed)
- pregnant, parturious and nursing mothers.
- with functional renal graft
- use an experimental treatment during 30 days before inclusion date
- pregnant, parturious and nursing mothers.
- pregnant, parturious and nursing mothers.
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 |
|---|---|---|
| Blood sampleBlood sample of 15ml max by subject (case, related individual, control) once time: * subject less than 5 kg : 1.8 to 4.5 ml max * subject 5 kg to 10 kg : 4.5 to 9 ml max * subject 10 kg to 15 kg : 9 to 13.5 ml * subject 15 kg to 20 kg : 13.5 to 15 ml max | Other | "Case" Patient, "Negative Control" patient, "Positive Control" patient, Healthy related individual |
| Urine sampleUrine sample (500 ml) once time | Other | "Case" Patient, "Negative Control" patient, "Positive Control" patient, Healthy related individual |
Primary outcome
Change in transcriptional profiles in different subtypes of ciliopathy patients and control subjects
Time frame: 3 years
RNA-sequencing analysis will be utilized to identify changes in transcriptional profiles and biological pathways in subgroups of patients to research whether the target mutation gene combination analyzed by transcription group was consistent with clinical cell morphological diagnosis and disease progression. Different human models will be used: Urine-derived Renal Epithelial Cells (URECs), renal organoids from patients derived induced Pluripotent Stem Cells (iPSCs) and urines.
2 secondary outcomes
Change in proteome profiles in different subtypes of ciliopathy patients and control subjects
Time frame: 3 years
Change in metabolome profiles in different subtypes of ciliopathy patients and control subjects
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- 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. This study is not recruiting at the moment.
Sophie SAUNIER, PhD study chair
Imagine Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample and Urine sample in people with Ciliopathies and Nephronophthisis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 20 inclusion and 11 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: finished, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in transcriptional profiles in different subtypes of ciliopathy patients and control subjects (time frame: 3 years). 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 6 May 2026.