NephronophthisisNPH1NCT06648044
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
A study testing Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie in people with Nephronophthisis and NPH1, run by Imagine Institute at 1 site in France.
Trial summary
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4). These genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Nephronophthisis, NPH1, Autosomal
- What is being tested?
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 310 participants
- Where
- 1 siteFrance
- Study dates
- 1 Feb 2016to 1 Feb 2028
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- In order to be included in the protocol, subjects will have to respect the following criteria:
- Affected patients:
- Suffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent(s) or legal representative No age limit is requested for these patients, who can be recruited from birth.
- Healthy relatives:
- Being the healthy relative (father / mother / brother / sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth.
- 'Negative' control patients: Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
- 'Positive' control patients Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
Who cannot join
- In order to be included in the protocol, subjects will have to fulfill none of the following criteria:
- Affected patients:
- Patients with a functioning kidney transplant (only for patient for who urine sample is performed. This criteria is not applicable when only blood is sampling) Patients included in a therapeutic protocol since fewer 30 days.
- Healthy relatives:
- No no-inclusion criteria
- 'Negative' control subjects: No no-inclusion criteria
- 'Positive' control subjects: Patients with a functioning kidney transplant
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Imagine Institute
La Defense
Sophie AF SAUNIER, sophie.saunier@inserm.fr
About this study
Official title: Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
These genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.
Read more
Nephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms.
NPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.
Read the detailed description
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
These genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.
Nephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms such as retinal dystrophy, cerebellar vermis hypoplasia, skeletal dysmorphisms and/or situs/inversus. These disorders overlap phenotypically, genetically and functionally. All are thought to result from defective ciliary signaling and are classified as renal ciliopathies.
NPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.
One possible therapeutic approach is to replace the defective protein; but delivery of recombinant proteins or mRNA to renal tubular cells is not currently feasible. However, each NPHP protein participates in numerous intracellular signalling pathways involving cilia functions.
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.
The global research project of which this protocol is a part seeks to identify new specific targets and develop new therapeutic agents against these targets for the treatment of NPH and other ciliopathies.
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive, Genetically, Heterogenic
- Being tested
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Keywords
- mutations, 20, genes
- Medical subject headings
- Nephronophthisis, familial juvenile, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathieOther
| Study group | Role | What they receive |
|---|---|---|
| Patients with nephronophthisis/renal associated ciliopathies | Other | Affected patients:
Suffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent
Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells. Receives: Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie |
| Healthy relatives of Patients | Other | Healthy relatives:
Being the healthy relative (father / mother / brother / sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth.
Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells Receives: Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie |
| Negative control | Other | Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells Receives: Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie |
| Positive control | Other | Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells Receives: Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie |
What is being measured
The primary outcome is the main question the study is designed to answer.
Positive or negative confirmation of potential therapeutic targets in urine-derived renal epithelial cells of patients
Measured: 3 years
Secondary outcomes (3)
Experimental transcriptomics data package from in vitro tubule cell model perturbed with disease network modifying agents
The experimental design and data will be formatted for Bayesian analytics.
Measured: 3 years
A rank ordered list of specific druggable nodes within the NPHP disease module that could be targeted by biologic or chemical entities.
A rank ordered list of specific druggable nodes within the NPHP disease module that could be targeted by biologic or chemical entities.
Measured: 3 years
Identify biomarkers to evaluate the response to small molecules for the management of NPHP and other renal ciliopathies.
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 posted18 Oct 2024
- Study start1 Feb 2016
- Primary completion1 Feb 2028 (estimated)
- Study completion1 Feb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NephronophthisisStudies 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
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 310 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06648044
- Sponsor's protocol ID
- IMIS2015-05
- Acronym
- NPH1
- Status last verified
- Sep 2026
- First submitted
- 23 Jan 2024
- Last updated
- 5 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1
- ClinicalTrials.gov ID
- NCT06648044
- Acronym / sponsor ID
- NPH1 / IMIS2015-05
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive, Genetically, Heterogenic
- Keywords
- mutations, 20, genes
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 310 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 1 Feb 2016 (actual)
- Primary completion
- 1 Feb 2028 (estimated)
- Study completion
- 1 Feb 2028 (estimated)
- First posted
- 18 Oct 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.
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
These genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.
Nephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms.
NPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.
Detailed description
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
These genetic defects are associated with reduced urine concentration, chronic tubulointerstitial nephritis, etc., and progress to end-stage renal failure before the age of 20.
Nephronophthisis may occur as an isolated pathology, but is also often associated with various extrarenal symptoms such as retinal dystrophy, cerebellar vermis hypoplasia, skeletal dysmorphisms and/or situs/inversus. These disorders overlap phenotypically, genetically and functionally. All are thought to result from defective ciliary signaling and are classified as renal ciliopathies.
NPHP genes account for around 50% of the genes responsible for NPH. No effective treatment is available to date.
One possible therapeutic approach is to replace the defective protein; but delivery of recombinant proteins or mRNA to renal tubular cells is not currently feasible. However, each NPHP protein participates in numerous intracellular signalling pathways involving cilia functions.
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA, and could be applicable to a broad set of NPHP mutations. To this end, Dr. Saunier's laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations.
The global research project of which this protocol is a part seeks to identify new specific targets and develop new therapeutic agents against these targets for the treatment of NPH and other ciliopathies.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Patients with nephronophthisis/renal associated ciliopathies | Other | Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathieAffected patients: Suffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells. |
| Healthy relatives of Patients | Other | Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathieHealthy relatives: Being the healthy relative (father / mother / brother / sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth. Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells |
| Negative control | Other | Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathieBeing unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth. Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells |
| Positive control | Other | Other: Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathieSuffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth. Intervention : blood and urine sample collection Collection of urines from patients will be followed by multiomics analyses including proteome and miRNAome profiling on EVs purified from urines by ultracentrifugation and metabolomics on unfractionated urine. Biomarkers identification for ciliopathy-induced chronic kidney disease will allow to monitor the drug response in treated urine-derived renal epithelial cells |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- In order to be included in the protocol, subjects will have to respect the following criteria:
- Suffering from nephronophthisis or renal associated ciliopathies with known genetic diagnosis or not, Having obtained the signature of the informed consent form of patient, parent(s) or legal representative No age limit is requested for these patients, who can be recruited from birth.
- Being the healthy relative (father / mother / brother / sister) of an included patient Having signed the informed consent form (patient or parent in case of minor subject) No age limit is requested for these subjects, who can be recruited from birth.
- 'Negative' control patients: Being unscathed of any chronic renal disease, with or without ciliopathies Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
- 'Positive' control patients Suffering from Chronic Kidney Disease unrelated to ciliary dysfunction (such as glomerulopathy, tubulopathy…) Having obtained the signature of the informed consent form No age limit is requested for these patients, who can be recruited from birth.
Key exclusion criteria (7 listed)
- In order to be included in the protocol, subjects will have to fulfill none of the following criteria:
- Patients with a functioning kidney transplant (only for patient for who urine sample is performed. This criteria is not applicable when only blood is sampling) Patients included in a therapeutic protocol since fewer 30 days.
- No no-inclusion criteria
- 'Negative' control subjects: No no-inclusion criteria
- 'Positive' control subjects: Patients with a functioning kidney transplant
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 |
|---|---|---|
| Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie | Other | Healthy relatives of Patients, Negative control, Patients with nephronophthisis/renal associated ciliopathies, Positive control |
Primary outcome
Positive or negative confirmation of potential therapeutic targets in urine-derived renal epithelial cells of patients
Time frame: 3 years
3 secondary outcomes
Experimental transcriptomics data package from in vitro tubule cell model perturbed with disease network modifying agents
Time frame: 3 years
A rank ordered list of specific druggable nodes within the NPHP disease module that could be targeted by biologic or chemical entities.
Time frame: 3 years
Identify biomarkers to evaluate the response to small molecules for the management of NPHP and other renal ciliopathies.
Time frame: 3 years
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 5 Oct 2026.
- Individual participant dataSharing planned: Undecided
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie in people with Nephronophthisis and NPH1, run by Imagine Institute 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 7 inclusion and 7 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 5 Oct 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?
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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Positive or negative confirmation of potential therapeutic targets in urine-derived renal epithelial cells of patients (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 5 Oct 2026.