Actively Recruiting
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Led by Imagine Institute · Updated on 2025-09-05
310
Participants Needed
1
Research Sites
626 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with nephronophthisis or related kidney ciliopathies, with or without a known genetic diagnosis
- Healthy relatives (father, mother, brother, sister) of included patients
- Control patients without chronic kidney disease or ciliopathies
- Control patients with chronic kidney disease unrelated to ciliary dysfunction
- All participants must provide signed informed consent (patient, parent, or legal representative)
- No age limit; participants can be recruited from birth
You will not qualify if you...
- Patients with a functioning kidney transplant (if urine samples are collected)
- Patients included in another therapeutic protocol within the last 30 days
- Control patients with a functioning kidney transplant
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Imagine Institute
La Defense, France
Actively Recruiting
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
4
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