Research on therapeutic targets for nephronophthisis and related kidney diseases
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1
This study is trying to find new treatment options for nephronophthisis and related kidney diseases by testing if existing drugs can fix problems in cells affected by this genetic condition.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 310 (estimated) |
| Sex | All |
| Sponsor | Imagine Institute Academic / other |
| Locations | 1 site (La Defense) |
| Trial ID | NCT06648044 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with nephronophthisis or renal associated ciliopathies, as well as their healthy relatives.
Not a fit: Patients with chronic renal diseases unrelated to nephronophthisis may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments for nephronophthisis and improve outcomes for affected patients.
How similar studies have performed: While there is ongoing research in this area, the specific approach of targeting NPHP proteins and their signaling pathways is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
La Defense
- Imagine Institute — La Defense, France (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.