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

Plain-language summary

This research aims to identify possible treatment targets in nephronophthisis and renal-associated ciliopathies, inherited kidney diseases. Patients of any age with these conditions, along with healthy relatives and control participants, may take part. It is a non-phase research study that is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Recruiting

Sponsor

Imagine Institute

Intervention

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

Start date

2/1/2016

Estimated completion

2/1/2028

Countries

France

Related genes

Locations

• La Defense, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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