Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Recruiting
N/A
Interventional Study
Nephronophthisis
NPH1
Autosomal
Recessive
Genetically
Heterogenic
Disorder
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
At a Glance
- Sex
- Any
- Study type
- Interventional
- Purpose
- Treatment
- Participants needed
- 310 (estimated)
- Sponsor
- Imagine Institute · Other
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About This Trial
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 o…
Trial Locations
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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 …
Contacts
No contact information available.