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Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Sponsor: Imagine Institute
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 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.
Official title: Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
310
Start Date
2016-02-01
Completion Date
2028-02-01
Last Updated
2025-09-05
Healthy Volunteers
Yes
Interventions
Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
Locations (1)
Imagine Institute
La Defense, France