Actively Recruiting
Research of Therapeutic Targets in Nephronophthisis and Renal Associated Ciliopathies - NPH_1
Led by Imagine Institute · Updated on 2025-09-05
310
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Nephronophthisis (NPH) is a genetic kidney disease caused by mutations in over 20 genes, including NPHP1 and NPHP4. It leads to reduced urine concentration, chronic kidney inflammation, and often progresses to end-stage kidney failure before age 20. NPH can occur alone or with other symptoms like retinal problems and skeletal abnormalities, all linked to ciliary dysfunction. Currently, there is no effective treatment available for this condition. Researchers are studying the proteins and signaling pathways affected by NPHP gene mutations to find new treatment targets. The study collects blood and urine samples from affected patients, healthy relatives, and control groups to analyze urine components through advanced methods like proteome and metabolomics profiling. This helps identify biomarkers and assess drug responses in kidney cells derived from patients. Participants provide samples for multiomics analyses, including protein and microRNA profiling from urine extracellular vesicles. Researchers will monitor these biomarkers to evaluate potential therapeutic targets in urine-derived kidney cells over three years. The main goal is to confirm new targets and support the development of treatments for NPH and related kidney ciliopathies.
CONDITIONS
Brief Title
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with nephronophthisis or renal associated ciliopathies, with or without known genetic diagnosis
- Signed informed consent by patient, parent(s), or legal representative
- Being a healthy relative (father, mother, brother, sister) of an included patient with signed consent
- Individuals without chronic renal disease (negative controls) with signed consent
- Patients with chronic kidney disease unrelated to ciliary dysfunction with signed consent
- No age limit; participants can be recruited from birth
You will not qualify if you...
- Patients with a functioning kidney transplant (when urine samples are collected)
- Patients included in another therapeutic protocol within the last 30 days
- Patients with a functioning kidney transplant among positive control subjects
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 years
Participants provide blood and urine samples for multiomics analyses including proteome, miRNAome, and metabolomics profiling to identify therapeutic targets and biomarkers for nephronophthisis and related renal ciliopathies.
Periodic sample collection visits as scheduled
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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