Research on therapeutic targets for nephronophthisis and related kidney diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study focuses on nephronophthisis (NPH), a genetically heterogeneous kidney disease caused by mutations in over 20 genes. It aims to investigate the therapeutic targets associated with NPH and renal ciliopathies by studying NPHP proteins and their signaling pathways. The research will explore the potential of approved drugs to correct ciliary and epithelial defects in cells with NPHP mutations. The study includes affected patients, their healthy relatives, and control patients to better understand the disease and its treatment options.

Why it matters

Who can join: the full rules

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

Where it's running

• Imagine Institute
  La Defense, France Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.