RECRUITING Not applicable ClinicalTrials.gov

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

Sponsor: Imagine Institute • ClinicalTrials.gov ID: NCT06648044

Registry updated: 2026-10-05

Recruiting for Similar Conditions?

Sponsors are looking for patients like you. See if you qualify for compensated research studies.

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. 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.

Interventions

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

Eligibility criteria

Inclusion Criteria: * 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. Exclusion Criteria: 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

Conditions

Nephronophthisis NPH1 Autosomal Recessive Genetically Heterogenic Disorder

Locations

Imagine Institute — La Defense, France

Partner with Nurenyx

Showcase your study to thousands of motivated patients matching your criteria.

Learn More

Official Source

Data sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

View Official Record

Accelerate Your Clinical Trial Recruitment