Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorImagine Institute
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
None
Trial design
Design model
Single group
Treatments tested in this trial
Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
Other intervention
Treatment groups
310 Participants
are divided into 4 treatment groupsGroup A: Patients with nephronophthisis/renal associated ciliopathiesOther 1 intervention
Group B: Healthy relatives of PatientsOther 1 intervention
Group C: Negative controlOther 1 intervention
Group D: Positive controlOther 1 intervention
Trial outcomes
Primary outcomes
1
Positive or negative confirmation of potential therapeutic targets in urine-derived renal epithelial cells of patients
Time frame
3 yearsSecondary outcomes
1
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.
Time frame
3 years2
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.
Time frame
3 years3
Identify biomarkers to evaluate the response to small molecules for the management of NPHP and other renal ciliopathies.
Time frame
3 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov