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Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies

NCT06648044 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 310

Last updated 2025-09-05

No results posted yet for this study

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.

Conditions

  • Nephronophthisis
  • NPH1
  • Autosomal
  • Recessive
  • Genetically
  • Heterogenic
  • Disorder

Interventions

OTHER

Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie

Sponsors & Collaborators

  • Imagine Institute

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-02-01
Primary Completion
2028-02-01
Completion
2028-02-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06648044 on ClinicalTrials.gov